SLOS
MCID: SMT004
MIFTS: 69

Smith-Lemli-Opitz Syndrome (SLOS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Rsh Syndrome 56 24 52 25 58 73
Slos 56 24 52 25 58 73
Slo Syndrome 56 24 52 25 73
Rutledge Lethal Multiple Congenital Anomaly Syndrome 56 12 52 73
7-Dehydrocholesterol Reductase Deficiency 52 25 58 71
Lethal Acrodysgenital Syndrome 56 52
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 52
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 56
Smith-Lemli-Opitz Syndrome, Type Ii 71
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
estimated incidence 1/20,000 - 1/40,000


HPO:

31
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14692
OMIM 56 270400
KEGG 36 H00161
MeSH 43 D019082
NCIt 49 C85071
SNOMED-CT 67 43929004
ICD10 32 E78.72
MESH via Orphanet 44 D019082
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0175694 C2713347
Orphanet 58 ORPHA818
SNOMED-CT via HPO 68 103276001 111266001 11296007 more
UMLS 71 C0175694 C0282644 C2713347

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 56 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). (270400)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to hypercholesterolemia, familial, 1 and pseudohermaphroditism, and has symptoms including seizures, constipation and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs Ketorolac and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 25 Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.

NIH Rare Diseases : 52 Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly ), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene . It is inherited in an autosomal recessive pattern.

KEGG : 36 Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.

UniProtKB/Swiss-Prot : 73 Smith-Lemli-Opitz syndrome: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

Wikipedia : 74 Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive,... more...

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

Diseases related to Smith-Lemli-Opitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 260, show less)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 31.2 LDLR HMGCR APOE
2 pseudohermaphroditism 31.2 STAR CYP19A1 CYP17A1
3 inherited metabolic disorder 31.0 LDLR HMGCR APOE ABCA1
4 sitosterolemia 31.0 HMGCR FDFT1 CYP27A1 ABCA1
5 xanthomatosis 30.9 LDLR HMGCR CYP27A1 APOE ABCA1
6 lipoid congenital adrenal hyperplasia 30.9 STAR CYP19A1 CYP17A1 CYP11A1
7 sex development disorder 30.7 STAR CYP19A1 CYP17A1 CYP11A1
8 cryptorchidism, unilateral or bilateral 30.5 STS STAR CYP19A1 CYP17A1 CYP11A1
9 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.9
10 lathosterolosis 12.1
11 van buchem disease 11.8
12 greenberg dysplasia 11.7
13 opitz gbbb syndrome, type i 11.7
14 autosomal recessive disease 11.2
15 chromosome 2q35 duplication syndrome 11.1
16 cleft palate, isolated 11.0
17 microcephaly 11.0
18 polydactyly 11.0
19 alacrima, achalasia, and mental retardation syndrome 11.0
20 holoprosencephaly 10.9
21 retinal degeneration 10.9
22 cataract 10.9
23 hirschsprung disease 1 10.8
24 polydactyly, postaxial, type a1 10.8
25 ptosis 10.8
26 hypospadias 10.8
27 autism 10.8
28 autism spectrum disorder 10.8
29 heart septal defect 10.8
30 hypotonia 10.8
31 pyloric stenosis 10.8
32 down syndrome 10.7
33 atrioventricular septal defect 10.7
34 oligohydramnios 10.7
35 pallister-hall syndrome 10.6
36 chondrodysplasia punctata syndrome 10.6
37 abnormal hair, joint laxity, and developmental delay 10.6
38 desmosterolosis 10.6
39 acid-labile subunit deficiency 10.6
40 hypothyroidism 10.6
41 malignant hyperthermia 10.6
42 chromosomal triplication 10.6
43 hypertelorism 10.5
44 split-hand/foot malformation 1 10.5
45 strabismus 10.5
46 renal hypodysplasia/aplasia 1 10.5
47 sitosterolemia 1 10.5
48 cerebrotendinous xanthomatosis 10.5
49 dandy-walker syndrome 10.5
50 hydrolethalus syndrome 1 10.5
51 late-onset retinal degeneration 10.5
52 cyanosis, transient neonatal 10.5
53 autosomal recessive non-syndromic intellectual disability 10.5
54 polyneuropathy 10.5
55 skin carcinoma 10.5
56 mechanical strabismus 10.5
57 hypoglycemia 10.5
58 dwarfism 10.5
59 germ cells tumors 10.5
60 isolated split hand-split foot malformation 10.5
61 alobar holoprosencephaly 10.5
62 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.5
63 autoimmune hepatitis type 2 10.5 CYP17A1 CYP11A1
64 renal hypoplasia 10.4
65 hypercholesterolemia, familial, 2 10.4 LDLR APOE
66 polyendocrinopathy 10.4 CYP17A1 CYP11A1
67 aniridia 1 10.4
68 gastroesophageal reflux 10.4
69 coarctation of aorta 10.4
70 epicanthus 10.4
71 attention deficit-hyperactivity disorder 10.4
72 lipomatosis, multiple 10.4
73 neurofibromatosis, type iv, of riccardi 10.4
74 optic nerve hypoplasia, bilateral 10.4
75 otitis media 10.4
76 pancreas, annular 10.4
77 polykaryocytosis inducer 10.4
78 dowling-degos disease 1 10.4
79 neural tube defects 10.4
80 ulnar hypoplasia 10.4
81 volvulus of midgut 10.4
82 arachnoid cysts, intracranial 10.4
83 joubert syndrome 1 10.4
84 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
85 enterocolitis 10.4
86 gastroschisis 10.4
87 genitopalatocardiac syndrome 10.4
88 hydrocephalus, congenital, 1 10.4
89 hydrops fetalis, nonimmune 10.4
90 miller-dieker lissencephaly syndrome 10.4
91 marinesco-sjogren syndrome 10.4
92 3-methylglutaconic aciduria, type iii 10.4
93 pierre robin syndrome 10.4
94 pseudotrisomy 13 syndrome 10.4
95 ck syndrome 10.4
96 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.4
97 gonadoblastoma 10.4
98 ataxia and polyneuropathy, adult-onset 10.4
99 dermatitis, atopic 10.4
100 patent ductus arteriosus 1 10.4
101 chromosome 16p13.3 deletion syndrome, proximal 10.4
102 premature ovarian failure 7 10.4
103 46,xy sex reversal 3 10.4
104 hyperprolactinemia 10.4
105 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
106 microcephaly, congenital cataract, and psoriasiform dermatitis 10.4
107 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
108 west syndrome 10.4
109 pulmonary hypertension 10.4
110 visceral heterotaxy 10.4
111 tooth agenesis 10.4
112 pervasive developmental disorder 10.4
113 organic acidemia 10.4
114 sclerocornea 10.4
115 inguinal hernia 10.4
116 3-methylglutaconic aciduria 10.4
117 x-linked chondrodysplasia punctata 2 10.4
118 mucolipidosis 10.4
119 pleomorphic lipoma 10.4
120 suppression amblyopia 10.4
121 amblyopia 10.4
122 bacterial infectious disease 10.4
123 hydrocephalus 10.4
124 hydronephrosis 10.4
125 respiratory failure 10.4
126 hypoparathyroidism 10.4
127 patau syndrome 10.4
128 clubfoot 10.4
129 hypertrophic pyloric stenosis 10.4
130 acute cystitis 10.4
131 hyperinsulinemic hypoglycemia 10.4
132 cholestasis 10.4
133 thrombocytopenia 10.4
134 ventricular septal defect 10.4
135 ichthyosis 10.4
136 atrial heart septal defect 10.4
137 constipation 10.4
138 brain germinoma 10.4
139 hemangioma 10.4
140 germ cell cancer 10.4
141 malignant glioma 10.4
142 gingivitis 10.4
143 germinoma 10.4
144 skin disease 10.4
145 central nervous system germinoma 10.4
146 movement disease 10.4
147 gingival hypertrophy 10.4
148 double outlet right ventricle 10.4
149 perinatal necrotizing enterocolitis 10.4
150 zellweger syndrome 10.4
151 peroxisomal disease 10.4
152 achalasia 10.4
153 pathologic nystagmus 10.4
154 hypertropia 10.4
155 hydrocele 10.4
156 atp8b1 deficiency 10.4
157 nsdhl-related disorders 10.4
158 3-beta-hydroxysteroid dehydrogenase deficiency 10.4
159 46, xy disorders of sexual development 10.4
160 cerebellar hypoplasia 10.4
161 chiari malformation 10.4
162 cleft tongue 10.4
163 colpocephaly 10.4
164 cor triatriatum 10.4
165 pachygyria 10.4
166 precocious puberty 10.4
167 pulmonary vein stenosis 10.4
168 pulmonary venous return anomaly 10.4
169 abdominal wall defect 10.4
170 cerebral atrophy 10.4
171 dysphagia 10.4
172 tremor 10.4
173 mixed germ cell tumor 10.4
174 renal dysplasia 10.4
175 defective apolipoprotein b-100 10.4 LDLR HMGCR APOE
176 mammographic density 10.3 CYP19A1 CYP17A1
177 alopecia, androgenetic, 1 10.3 STS CYP19A1
178 lipoprotein glomerulopathy 10.3 LDLR APOE
179 hyperalphalipoproteinemia 1 10.3 LDLR APOE ABCA1
180 macular degeneration, age-related, 1 10.3
181 scotoma 10.3
182 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.3 STAR CYP17A1 CYP11A1
183 steroid inherited metabolic disorder 10.3 STAR CYP17A1 CYP11A1
184 adrenocortical carcinoma, hereditary 10.3 STAR CYP17A1 CYP11A1
185 transsexualism 10.3 CYP19A1 CYP17A1
186 antley-bixler syndrome 10.3 CYP19A1 CYP17A1 CYP11A1
187 mycetoma 10.3 CYP19A1 CYP17A1
188 hypoadrenocorticism, familial 10.3 STAR CYP17A1 CYP11A1
189 kohler's disease 10.3 CYP19A1 CFL1
190 retinal disease 10.2
191 gender identity disorder 10.2 CYP19A1 CYP17A1
192 juvenile nasopharyngeal angiofibroma 10.2 CYP19A1 CYP11A1
193 46 xy gonadal dysgenesis 10.2 STAR CYP17A1 CYP11A1
194 homozygous familial hypercholesterolemia 10.2 LDLR HMGCR APOE ABCA1
195 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 CYP17A1 CYP11A1
196 ovarian cancer 10.2
197 intraocular pressure quantitative trait locus 10.2
198 macular retinal edema 10.2
199 macular holes 10.2
200 hyperandrogenism 10.2 CYP19A1 CYP17A1 CYP11A1
201 adrenal carcinoma 10.2 STAR CYP17A1 CYP11A1
202 clopidogrel resistance 10.2 PON1 HMGCR
203 asperger syndrome 10.2 DHCR7 CYP19A1 CYP17A1 CYP11A1
204 hyperlipidemia, familial combined, 3 10.1 PON1 LDLR APOE
205 yemenite deaf-blind hypopigmentation syndrome 10.1
206 hydrops, lactic acidosis, and sideroblastic anemia 10.1
207 myopia 10.1
208 prion disease 10.1
209 leydig cell tumor 10.1 STAR CYP19A1 CYP17A1 CYP11A1
210 congenital hypopituitarism 10.1 SHH CYP19A1
211 premature ovarian failure 1 10.1 STAR CYP19A1 CYP17A1 CYP11A1
212 polycystic ovary syndrome 10.0 STAR CYP19A1 CYP17A1 CYP11A1
213 aortic atherosclerosis 10.0 PON1 LDLR APOE ABCA1
214 arteriosclerosis 10.0 PON1 LDLR HMGCR APOE
215 holoprosencephaly 11 10.0 SHH DHCR7
216 endometriosis 10.0 STS STAR CYP19A1 CYP17A1
217 polyhydramnios 10.0
218 ovarian disease 10.0 STAR CYP19A1 CYP17A1 CYP11A1
219 cerebrovascular disease 10.0 PON1 LDLR APOE ABCA1
220 alcohol dependence 9.9
221 multiple sclerosis 9.9
222 glaucoma, primary open angle 9.9
223 pseudopapilledema 9.9
224 microvascular complications of diabetes 5 9.9
225 nail disorder, nonsyndromic congenital, 10 9.9
226 striatal degeneration, autosomal dominant 2 9.9
227 autosomal dominant nocturnal frontal lobe epilepsy 9.9
228 open-angle glaucoma 9.9
229 pertussis 9.9
230 retinal microaneurysm 9.9
231 onchocerciasis 9.9
232 leukocoria 9.9
233 optic neuritis 9.9
234 diarrhea 9.9
235 papilledema 9.9
236 neuritis 9.9
237 impotence 9.9
238 pneumonia 9.9
239 diabetic macular edema 9.9
240 lichen planus 9.9
241 refractive error 9.9
242 alopecia areata 9.9
243 alopecia 9.9
244 best vitelliform macular dystrophy 9.9
245 kcnt1-related epilepsy 9.9
246 ovarian epithelial cancer 9.9
247 periodontal ehlers-danlos syndrome 9.9
248 rapidly involuting congenital hemangioma 9.9
249 familial hypercholesterolemia 9.9 PON1 LDLR HMGCR APOE ABCA1
250 familial hyperlipidemia 9.9 PON1 LDLR HMGCR APOE ABCA1
251 coronary heart disease 1 9.9 PON1 LDLR HMGCR APOE ABCA1
252 lipid metabolism disorder 9.9 PON1 LDLR HMGCR APOE ABCA1
253 atherosclerosis susceptibility 9.9 PON1 LDLR HMGCR APOE ABCA1
254 stroke, ischemic 9.9 PON1 LDLR HMGCR APOE ABCA1
255 cardiovascular system disease 9.9 PON1 LDLR HMGCR APOE ABCA1
256 choriocarcinoma 9.9 CYP19A1 CYP11A1 CGB7
257 vascular disease 9.9 PON1 LDLR HMGCR APOE ABCA1
258 hypertension, essential 9.5 PON1 LDLR KCNMA1 HMGCR CYP17A1 APOE
259 diabetes mellitus, noninsulin-dependent 9.5 STAR PON1 LDLR HMGCR CYP17A1 APOE
260 body mass index quantitative trait locus 11 9.3 STAR PON1 LDLR FDFT1 CYP19A1 CYP11A1

Graphical network of the top 20 diseases related to Smith-Lemli-Opitz Syndrome:



Diseases related to Smith-Lemli-Opitz Syndrome

Symptoms & Phenotypes for Smith-Lemli-Opitz Syndrome

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

58 31 (showing 158, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
9 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
10 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
11 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
12 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
13 increased nuchal translucency 58 31 hallmark (90%) Very frequent (99-80%) HP:0010880
14 elevated 7-dehydrocholesterol 58 31 hallmark (90%) Very frequent (99-80%) HP:0010569
15 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
18 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
21 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
22 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
23 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
24 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
25 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
26 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
27 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
28 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
29 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
30 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
31 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
32 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
33 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
34 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
35 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
36 tracheal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002777
37 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
38 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
39 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
40 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
41 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
42 proximal placement of thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009623
43 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
44 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
45 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
46 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
47 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
48 abnormal lung lobation 58 31 frequent (33%) Frequent (79-30%) HP:0002101
49 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
50 abnormality of the larynx 58 31 frequent (33%) Frequent (79-30%) HP:0001600
51 facial capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0000996
52 clitoral hypertrophy 31 frequent (33%) HP:0008665
53 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
54 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
55 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
56 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
57 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
58 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
59 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
60 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
61 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
62 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
63 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
64 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
65 abnormality of the gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005264
66 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
67 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
68 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
69 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
70 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
71 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
72 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
73 rhizomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008905
74 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
75 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
76 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
77 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
78 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
79 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
80 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
81 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
82 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
83 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
84 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
85 reduced number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009804
86 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
87 sclerocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000647
88 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
89 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
90 ulnar deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009465
91 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
92 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
93 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
94 advanced eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006288
95 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
96 aplasia/hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006501
97 mesomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003027
98 gastroschisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001543
99 bifid tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010297
100 microglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000171
101 talipes calcaneovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001884
102 abnormal eyelash morphology 31 occasional (7.5%) HP:0000499
103 short stature 58 31 Very frequent (99-80%) HP:0004322
104 low-set ears 31 HP:0000369
105 failure to thrive 31 HP:0001508
106 sleep disturbance 58 Frequent (79-30%)
107 constipation 31 HP:0002019
108 hydrocephalus 31 HP:0000238
109 precocious puberty 31 HP:0000826
110 hearing impairment 31 HP:0000365
111 depressed nasal bridge 31 HP:0005280
112 renal cyst 31 HP:0000107
113 vomiting 31 HP:0002013
114 narrow forehead 31 HP:0000341
115 hyperactivity 31 HP:0000752
116 generalized hypotonia 31 HP:0001290
117 malformation of the heart and great vessels 58 Frequent (79-30%)
118 micromelia 31 HP:0002983
119 broad alveolar ridges 31 HP:0000187
120 metatarsus adductus 31 HP:0001840
121 epiphyseal stippling 31 HP:0010655
122 growth delay 58 Very frequent (99-80%)
123 recurrent otitis media 31 HP:0000403
124 coarctation of aorta 31 HP:0001680
125 short toe 31 HP:0001831
126 cholestatic liver disease 31 HP:0002611
127 abnormality of the eyelashes 58 Occasional (29-5%)
128 posteriorly rotated ears 31 HP:0000358
129 micropenis 31 HP:0000054
130 aggressive behavior 31 HP:0000718
131 overlapping toe 31 HP:0001845
132 dandy-walker malformation 31 HP:0001305
133 poor suck 31 HP:0002033
134 hypoplasia of the frontal lobes 31 HP:0007333
135 bifid scrotum 31 HP:0000048
136 dental crowding 31 HP:0000678
137 severe photosensitivity 31 HP:0007537
138 renal hypoplasia 31 HP:0000089
139 intestinal malrotation 31 HP:0002566
140 scrotal hypoplasia 31 HP:0000046
141 decreased fetal movement 31 HP:0001558
142 sleep-wake cycle disturbance 31 HP:0006979
143 eczema 31 HP:0000964
144 short thumb 31 HP:0009778
145 hypoplasia of the corpus callosum 31 HP:0002079
146 clitoromegaly 58 Frequent (79-30%)
147 premature birth 31 HP:0001622
148 breech presentation 31 HP:0001623
149 hammertoe 31 HP:0001765
150 unilateral renal agenesis 31 HP:0000122
151 renal agenesis 31 HP:0000104
152 bicornuate uterus 31 HP:0000813
153 gastrointestinal dysmotility 31 HP:0002579
154 hypocholesterolemia 31 HP:0003146
155 septate vagina 31 HP:0001153
156 self-mutilation 31 HP:0000742
157 hip subluxation 31 HP:0030043
158 periventricular heterotopia 31 HP:0007165

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Neurologic Central Nervous System:
seizures
hydrocephalus
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Abdomen Gastrointestinal:
constipation
vomiting
poor suck
pyloric stenosis
malrotation

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta

Skeletal Pelvis:
hip dislocation
hip subluxation

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Head And Neck Teeth:
dental crowding
large central front teeth

Prenatal Manifestations Movement:
decreased fetal movement

Prenatal Manifestations Delivery:
breech presentation

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
hypoplastic tongue
broad alveolar margins

Skeletal Feet:
metatarsus adductus
postaxial polydactyly
talipes calcaneovalgus
short, broad toes
syndactyly of second and third toes
more
Genitourinary External Genitalia Male:
hypospadias
micropenis
bifid scrotum
ambiguous genitalia
hypoplastic scrotum
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Skin Nails Hair Skin:
severe photosensitivity
eczema
facial capillary hemangioma

Genitourinary Ureters:
ureteropelvic junction obstruction

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Respiratory Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Growth Weight:
birth weight <2500gm

Skin Nails Hair Hair:
blonde hair

Clinical features from OMIM:

270400

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


seizures, constipation, vomiting

GenomeRNAi Phenotypes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

26 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 ABCA1 APOE HMGCR LDLR
2 Reduced mammosphere formation GR00396-S 9.23 CFL1 DHCR7 FDFT1 HMGCR LDLR NADSYN1

MGI Mouse Phenotypes related to Smith-Lemli-Opitz Syndrome:

45 (showing 9, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
2 cardiovascular system MP:0005385 10.23 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
3 homeostasis/metabolism MP:0005376 10.18 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
4 digestive/alimentary MP:0005381 10.03 ABCA1 APOE CYP19A1 CYP27A1 DHCR7 KCNMA1
5 liver/biliary system MP:0005370 9.97 ABCA1 APOE CYP11A1 CYP19A1 CYP27A1 DHCR7
6 nervous system MP:0003631 9.9 ABCA1 APOE CFL1 CYP11A1 CYP19A1 CYP27A1
7 muscle MP:0005369 9.86 ABCA1 APOE CYP11A1 CYP19A1 DHCR7 KCNMA1
8 renal/urinary system MP:0005367 9.56 ABCA1 APOE CFL1 CYP19A1 CYP27A1 DHCR7
9 reproductive system MP:0005389 9.32 ABCA1 APOE CYP11A1 CYP17A1 CYP19A1 FDFT1

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

Drugs for Smith-Lemli-Opitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 41, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
4 Anti-Inflammatory Agents Phase 4
5 Anti-Asthmatic Agents Phase 4
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Cyclooxygenase Inhibitors Phase 4
9 Hormone Antagonists Phase 4
10 Betamethasone Valerate Phase 4 2152-44-5
11 Betamethasone benzoate Phase 4
12 Respiratory System Agents Phase 4
13 Ketorolac Tromethamine Phase 4
14 Betamethasone sodium phosphate Phase 4
15 Betamethasone-17,21-dipropionate Phase 4
16 glucocorticoids Phase 4
17 Analgesics Phase 4
18 Hormones Phase 4
19
Simvastatin Approved Phase 2 79902-63-9 54454
20
tannic acid Approved Phase 1, Phase 2 1401-55-4
21
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
22
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
23
rituximab Approved Phase 2 174722-31-7 10201696
24 Phytosterol Phase 1, Phase 2
25 Protective Agents Phase 2
26 Anesthetics Phase 2
27 Antioxidants Phase 2
28 Cholic Acids Phase 1, Phase 2
29 Gastrointestinal Agents Phase 1, Phase 2
30 Antirheumatic Agents Phase 2
31 Antineoplastic Agents, Immunological Phase 2
32 Thymoglobulin Phase 2
33 Isoantibodies Phase 2
34 Immunoglobulins Phase 2
35 Antilymphocyte Serum Phase 2
36 Antibodies Phase 2
37 Immunoglobulins, Intravenous Phase 2
38 Rho(D) Immune Globulin Phase 2
39 gamma-Globulins Phase 2
40 Immunosuppressive Agents Phase 2
41 Immunologic Factors Phase 2

Interventional clinical trials:

(showing 18, show less)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomized, Controlled, Equivalence Study Comparing Intra-articular Corticosteroid to Intra-articular Ketorolac Knee Injections Unknown status NCT02612272 Phase 4 Ketorolac;Betamethasone
2 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
5 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
6 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
9 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
10 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
11 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
12 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
13 Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis Completed NCT01059201
14 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
15 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
16 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
17 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
18 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

Genetic tests related to Smith-Lemli-Opitz Syndrome:

# Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 29 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

40
Lung, Heart, Kidney, Brain, T Cells, Tongue, Skin

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(showing 888, show less)
# Title Authors PMID Year
1
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. 54 61 24 56 6
9634533 1998
2
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. 61 24 56 6
10710236 2000
3
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 61 24 56 6
9653161 1998
4
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. 54 61 56 6
17965227 2008
5
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 54 61 56 6
11562938 2001
6
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. 54 61 56 6
11298379 2001
7
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 54 61 56 6
11175299 2001
8
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. 54 61 56 6
10814720 2000
9
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 61 56 6
22211794 2012
10
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. 61 56 6
20635399 2010
11
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 54 61 24 56
15286151 2004
12
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 61 56 6
12949967 2003
13
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. 54 61 24 56
11471166 2001
14
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. 54 61 24 56
11161831 2001
15
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. 54 61 24 56
10951458 2000
16
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. 61 56 6
9714007 1998
17
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 54 61 24 6
9683613 1998
18
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. 54 24 56
14735596 2004
19
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 61 24 6
14556255 2003
20
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. 61 24 56
11167696 2001
21
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. 61 24 56
11223857 2001
22
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 61 24 6
10677299 2000
23
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. 61 24 56
10069707 1999
24
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. 61 24 56
9880216 1998
25
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. 61 24 56
9678700 1998
26
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 61 24 56
9024557 1997
27
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) 61 24 56
9024564 1997
28
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. 61 24 56
9024565 1997
29
Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. 61 24 56
9024566 1997
30
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. 61 24 56
8559757 1995
31
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. 61 24 56
7608816 1995
32
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. 61 24 56
8209913 1994
33
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 61 24 56
8259166 1994
34
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. 61 24 56
7684480 1993
35
Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. 61 24 56
3322011 1987
36
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 61 24 56
3812577 1987
37
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. 61 24 56
3018967 1985
38
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. 61 24 56
6886911 1983
39
Smith-Lemli-Opitz syndrome: review and report of two affected siblings. 61 24 56
166525 1975
40
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. 54 61 56
20067919 2010
41
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. 54 61 6
15952211 2005
42
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. 54 61 6
16044199 2005
43
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 54 61 6
15521979 2004
44
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. 24 6
12794707 2003
45
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. 54 61 6
11857552 2002
46
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 54 61 56
11745994 2001
47
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. 54 61 6
11078571 2000
48
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. 54 61 56
8863875 1996
49
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. 54 61 56
7632194 1994
50
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. 24 56
3950937 1986
51
Micrognathia, polydactyly, and cleft palate. 24 56
5652614 1968
52
The syndrome of retardation with urogenital and skeletal anomalies in siblings. 24 56
5946456 1966
53
A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM. 24 56
14288458 1965
54
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 61 56
27513191 2017
55
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 54 61 24
17441222 2007
56
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). 54 61 24
17497248 2007
57
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 61 56
16761297 2006
58
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. 61 56
16618793 2006
59
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. 61 56
16451140 2006
60
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 54 61 24
15670717 2005
61
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 61 56
12668600 2003
62
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. 54 61 24
12224080 2002
63
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. 61 56
11230174 2001
64
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. 54 61 24
11001806 2000
65
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. 61 6
10995508 2000
66
Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. 61 56
10947201 2000
67
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. 54 61 24
10899806 2000
68
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. 61 6
10602371 1999
69
Biochemical variants of Smith-Lemli-Opitz syndrome. 61 56
10405455 1999
70
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. 61 56
10411425 1999
71
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. 61 56
10084612 1999
72
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. 61 56
10069708 1999
73
Smith-Lemli-Opitz Syndrome 61 6
20301322 1998
74
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. 61 56
9714006 1998
75
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. 61 56
9683618 1998
76
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. 61 56
9602484 1998
77
Phenotypic diversity in the Smith-Lemli-Opitz syndrome. 61 56
9018421 1997
78
Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome. 61 56
9024556 1997
79
Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). 61 56
9024559 1997
80
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. 61 56
9024560 1997
81
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. 61 56
9024561 1997
82
Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. 61 56
9024562 1997
83
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. 61 56
9024568 1997
84
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? 54 61 24
8989473 1996
85
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes. 61 56
8839719 1996
86
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. 61 56
8808751 1996
87
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). 54 61 24
8726234 1996
88
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. 61 56
8831138 1996
89
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. 61 56
7560069 1995
90
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. 61 56
8533850 1995
91
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. 61 56
7762564 1995
92
Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. 61 56
7814648 1995
93
Diagnosis of Smith-Lemli-Opitz syndrome. 61 56
8177281 1994
94
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. 61 56
8209918 1994
95
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. 61 56
8116676 1994
96
Cholesterol defect in Smith-Lemli-Opitz syndrome. 61 56
8256825 1993
97
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. 61 56
1392379 1992
98
Smith-Lemli-Opitz syndrome: the changing phenotype with age. 61 56
1642814 1992
99
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. 61 56
1849804 1991
100
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? 61 56
2395167 1990
101
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). 61 56
2596525 1989
102
Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. 61 56
3560332 1987
103
Two cases of severe lethal Smith-Lemli-Opitz syndrome. 61 56
3812579 1987
104
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. 61 56
3712395 1986
105
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. 61 56
6713715 1984
106
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. 61 56
6859094 1983
107
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. 61 56
844667 1977
108
The pathological anatomy of the Smith-Lemli-Opitz syndrome. 61 56
1149307 1975
109
Smith-Lemli-Opitz syndrome in an inbred family. 61 56
5056882 1972
110
Smith-Lemli-Opitz syndrome in an adult. 61 56
4153066 1972
111
Cataracts in the Smith-Lemli-Opitz syndrome. 61 56
4330375 1971
112
The Smith-Lemli-Opitz syndrome in an adult male. 61 56
5363344 1969
113
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. 61 56
4389828 1969
114
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. 61 24
23790112 2014
115
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 61 24
23918729 2013
116
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. 61 24
23628460 2013
117
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
118
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 56
22975760 2013
119
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. 61 24
23059950 2012
120
Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. 61 24
23042585 2012
121
Mutational spectrum of Smith-Lemli-Opitz syndrome. 61 24
23042628 2012
122
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. 61 24
23042642 2012
123
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 61 24
22438180 2012
124
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. 61 24
22226660 2012
125
Adrenal function in Smith-Lemli-Opitz syndrome. 61 24
21990131 2011
126
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. 61 24
21626671 2011
127
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. 61 24
20104611 2010
128
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. 61 24
19430384 2009
129
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. 61 24
18442819 2008
130
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. 61 24
18556335 2008
131
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. 61 24
18076100 2008
132
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. 61 24
16490099 2006
133
Maternal cholesterol in fetal development: transport of cholesterol from the maternal to the fetal circulation. 61 24
16332646 2005
134
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Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 61 24
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Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report. 61 24
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Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. 61 24
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MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. 61 24
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Smith-Lemli-Opitz syndrome: a review, case report and dental implications. 61 24
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Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome. 61 24
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Simvastatin treatment in the SLO syndrome: a safe approach? 61 24
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Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. 61 24
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Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. 61 24
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Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. 61 24
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Mutations in the human DHCR7 gene. 61 24
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RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. 61 24
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Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. 61 24
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Anesthetic considerations in Smith-Lemli-Opitz syndrome. 61 24
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Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty. 61 24
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Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. 61 24
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Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. 61 24
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Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. 61 24
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First-trimester diagnosis of Smith-Lemli-Opitz syndrome. 61 24
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Cardiovascular malformations in Smith-Lemli-Opitz syndrome. 61 24
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Cholesterol modification of hedgehog signaling proteins in animal development. 56
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Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. 61 24
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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. 61 24
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Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. 61 24
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Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. 61 24
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Smith-Lemli-Opitz syndrome and Hirschsprung disease. 61 24
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A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz. 56
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A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. 56
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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. 56
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Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. 54 61
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A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. 54 61
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Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. 54 61
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Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. 54 61
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Molecular consequences of altered neuronal cholesterol biosynthesis. 54 61
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Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. 54 61
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Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 54 61
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Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. 54 61
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Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. 54 61
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Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. 54 61
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Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. 54 61
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. 54 61
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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 54 61
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Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. 54 61
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Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. 54 61
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Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. 54 61
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Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. 54 61
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Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 54 61
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Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. 54 61
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Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. 54 61
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Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. 54 61
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Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 54 61
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Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 54 61
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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. 54 61
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Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. 54 61
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202
Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. 54 61
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A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. 54 61
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Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. 54 61
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Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 54 61
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Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 54 61
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Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. 54 61
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Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. 54 61
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27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. 54 61
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Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. 54 61
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Smith-Lemli-Opitz syndrome and the DHCR7 gene. 54 61
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Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. 54 61
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DHCR7 and Smith-Lemli-Opitz syndrome. 54 61
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Genetic disorders of cholesterol biosynthesis in mice and humans. 54 61
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Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. 54 61
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Sterols in blood of normal and Smith-Lemli-Opitz subjects. 54 61
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Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. 54 61
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Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. 54 61
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Role of cholesterol in embryonic development. 54 61
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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. 54 61
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Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. 54 61
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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. 54 61
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A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. 54 61
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Cholesterol biosynthesis inhibited by BM15.766 induces holoprosencephaly in the rat. 54 61
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Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. 54 61
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Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. 61
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Extracellular traps and PAD4 released by macrophages induce citrullination and auto-antibody production in autoimmune arthritis. 61
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CTLA-4 Immunohistochemistry and Quantitative Image Analysis for Profiling of Human Cancers. 61
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Targeted Migration of Human Adipose-Derived Stem Cells to Secondary Lymphoid Organs Enhances Their Immunomodulatory Effect and Prolongs the Survival of Allografted Vascularized Composites. 61
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Short-term KRP203 and posttransplant cyclophosphamide for graft-versus-host disease prophylaxis. 61
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Antigen-specific immune decoys intercept and exhaust autoimmunity to prevent disease. 61
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Regulatory T cells differ from conventional CD4+ T cells in their recirculatory behavior and lymph node transit times. 61
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In vivo subdiffuse scanning laser oximetry of the human retina. 61
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Use of reflective writing within interprofessional education: a mixed-methods analysis. 61
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Desmosterolosis and desmosterol homeostasis in the developing mouse brain. 61
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A novel measure of drug benefit-risk assessment based on Scale Loss Score. 61
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Intraluminal Pulmonary Vein Stenosis in Children: A "New" Lesion. 61
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Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome. 61
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The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. 61
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Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism? 61
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Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment. 61
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Tissue-resident lymphocytes: from adaptive to innate immunity. 61
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T follicular helper cell heterogeneity: Time, space, and function. 61
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Subcellular localization of sterol biosynthesis enzymes. 61
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Toward the Existence of a Sympathetic Neuroplasticity Adaptive Mechanism Influencing the Immune Response. A Hypothetical View-Part I. 61
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Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. 61
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Stability and Maintenance of Foxp3+ Treg Cells in Non-lymphoid Microenvironments. 61
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Novel Targeting to XCR1+ Dendritic Cells Using Allogeneic T Cells for Polytopical Antibody Responses in the Lymph Nodes. 61
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Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome. 61
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Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders. 61
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Essential Role of Canonical NF-κB Activity in the Development of Stromal Cell Subsets in Secondary Lymphoid Organs. 61
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Cytotoxic chemotherapy reduces T cell trafficking to the spleen by downregulating the expression of C-C motif chemokine ligand 21 and C-C motif chemokine ligand 19. 61
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Sub-nanosecond single line-of-sight (SLOS) x-ray imagers (invited). 61
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The single-line-of-sight, time-resolved x-ray imager diagnostic on OMEGA. 61
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Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. 61
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Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders. 61
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Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. 61
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SULFATION PATHWAYS: Alternate steroid sulfation pathways targeted by LC-MS/MS analysis of disulfates: application to prenatal diagnosis of steroid synthesis disorders. 61
29459491 2018
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Smith-Lemli-Opitz Mutations in Unexplained Stillbirths. 61
29433144 2018
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Visualizing the Rapid and Dynamic Elimination of Allogeneic T Cells in Secondary Lymphoid Organs. 61
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Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 61
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Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation. 61
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Performance of The Society of Thoracic Surgeons 2008 Cardiac Risk Models for Major Postoperative Complications after Heart Valve Surgery in a Chinese Population: A Multicenter Study. 61
30084779 2018
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Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. 61
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Syndromes associated with holoprosencephaly. 61
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Learning outcomes: Exploring implications of adopting a different level of detail. 61
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Neuronal Dysfunction Associated with Cholesterol Deregulation. 61
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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. 61
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Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. 61
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Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. 61
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Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. 61
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Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. 61
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Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. 61
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Safety of shorter length of hospital stay for patients undergoing minimalist transcatheter aortic valve replacement. 61
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The Therapeutic Effect of ICAM-1-Overexpressing Mesenchymal Stem Cells on Acute Graft-Versus-Host Disease. 61
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Molecular and Cellular Requirements for the Assembly of Tertiary Lymphoid Structures. 61
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The expansion in lymphoid organs of IL-4+ BATF+ T follicular helper cells is linked to IgG4 class switching in vivo. 61
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Profiling the lymphoid-resident T cell pool reveals modulation by age and microbiota. 61
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Cellular and Vascular Components of Tertiary Lymphoid Structures. 61
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The B-Cell Follicle in HIV Infection: Barrier to a Cure. 61
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Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. 61
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Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. 61
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Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. 61
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Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith-Lemli-Opitz syndrome. 61
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A TNF-p100 pathway subverts noncanonical NF-κB signaling in inflamed secondary lymphoid organs. 61
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Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure. 61
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Propagation rate constants for the peroxidation of sterols on the biosynthetic pathway to cholesterol. 61
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Vitamin D levels in Smith-Lemli-Opitz syndrome. 61
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Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. 61
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Macrophages Induce Long-Term Trapping of γδ T Cells with Innate-like Properties within Secondary Lymphoid Organs in the Steady State. 61
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Impact of CCR7 on T-Cell Response and Susceptibility to Yersinia pseudotuberculosis Infection. 61
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Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor. 61
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T cell specific Cxcr5 deficiency prevents rheumatoid arthritis. 61
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Basophils contribute to pristane-induced Lupus-like nephritis model. 61
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Normal IQ is possible in Smith-Lemli-Opitz syndrome. 61
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Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. 61
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Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. 61
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Simian Immunodeficiency Virus Targeting of CXCR3+ CD4+ T Cells in Secondary Lymphoid Organs Is Associated with Robust CXCL10 Expression in Monocyte/Macrophage Subsets. 61
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Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. 61
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Neutrophils Slow Disease Progression in Murine Lupus via Modulation of Autoreactive Germinal Centers. 61
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Prevalence of four Mendelian disorders associated with autism in 2392 affected families. 61
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Cholesterolomics: An update. 61
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Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. 61
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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. 61
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ASP0028 in combination with suboptimal-dose of tacrolimus in Cynomolgus monkey renal transplantation model. 61
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Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. 61
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Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis. 61
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Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. 61
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Spoiling for a Fight: B Lymphocytes As Initiator and Effector Populations within Tertiary Lymphoid Organs in Autoimmunity and Transplantation. 61
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Cyclin-dependent kinase 5 activity is required for allogeneic T-cell responses after hematopoietic cell transplantation in mice. 61
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Upregulation of CC Chemokine Receptor 7 (CCR7) Enables Migration of Xenogeneic Human Adipose-Derived Mesenchymal Stem Cells to Rat Secondary Lymphoid Organs. 61
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DHCR7: A vital enzyme switch between cholesterol and vitamin D production. 61
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The Role of Dietary Cholesterol in Lipoprotein Metabolism and Related Metabolic Abnormalities: A Mini-review. 61
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Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. 61
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CollagenVI-Cre mice: A new tool to target stromal cells in secondary lymphoid organs. 61
27604178 2016
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Antenatal manifestations of inborn errors of metabolism: biological diagnosis. 61
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Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. 61
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Peripheral tolerance can be modified by altering KLF2-regulated Treg migration. 61
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7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. 61
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A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. 61
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7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome. 61
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Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols. 61
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Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells. 61
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Innate lymphoid cells in secondary lymphoid organs. 61
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Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density. 61
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Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis. 61
26887953 2016
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Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. 61
26998835 2016
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Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. 61
27050588 2016
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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. 61
26969503 2016
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Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism. 61
26733147 2016
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Disrupted Homeostatic Cytokines Expression in Secondary Lymph Organs during HIV Infection. 61
27011165 2016
332
Using a Concept Inventory to Assess the Reasoning Component of Citizen-Level Science Literacy: Results from a 17,000-Student Study. 61
27047612 2016
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Metabolic Precursor of Cholesterol Causes Formation of Chained Aggregates of Liquid-Ordered Domains. 61
26783730 2016
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The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts. 61
26789657 2016
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Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. 61
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Fever and neutropenia hospital discharges in children with cancer: A 2012 update. 61
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Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. 61
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Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. 61
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Stromal Fibroblasts in Tertiary Lymphoid Structures: A Novel Target in Chronic Inflammation. 61
27877173 2016
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Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction. 61
27099785 2016
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How Follicular Dendritic Cells Shape the B-Cell Antigenome. 61
27446069 2016
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Clonal selection versus clonal cooperation: the integrated perception of immune objects. 61
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B Cells Negatively Regulate the Establishment of CD49b(+)T-bet(+) Resting Memory T Helper Cells in the Bone Marrow. 61
26870041 2016
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Lymphoid Tissue Mesenchymal Stromal Cells in Development and Tissue Remodeling. 61
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High Endothelial Venules and Lymphatic Vessels in Tertiary Lymphoid Organs: Characteristics, Functions, and Regulation. 61
27881983 2016
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Post-conversion sialylation of prions in lymphoid tissues. 61
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Outcomes of pregnancies with more than one positive prenatal screening result in the first or second trimester. 61
26288069 2015
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Ankyloglossia with cleft lip: A rare case report. 61
26941523 2015
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[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report]. 61
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Detection Rates for Aneuploidy by First-Trimester and Sequential Screening. 61
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[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome]. 61
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Enhanced Chemokine Receptor Recycling and Impaired S1P1 Expression Promote Leukemic Cell Infiltration of Lymph Nodes in Chronic Lymphocytic Leukemia. 61
26282174 2015
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Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. 61
26347274 2015
354
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. 61
26492708 2015
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Characterizing natural hydrogel for reconstruction of three-dimensional lymphoid stromal network to model T-cell interactions. 61
25649205 2015
356
Characterization of large deletions in the DHCR7 gene. 61
25040602 2015
357
Novel activities of CYP11A1 and their potential physiological significance. 61
25448732 2015
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LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. 61
25963649 2015
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Retinal area detector from scanning laser ophthalmoscope (SLO) images for diagnosing retinal diseases. 61
25167560 2015
360
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 61
25646736 2015
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Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI. 61
25822928 2015
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Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. 61
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Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. 61
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Estrogen enhances secretion of apolipoprotein B-100 containing lipoproteins by BeWo cells. 61
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Mechanism of Action of IL-7 and Its Potential Applications and Limitations in Cancer Immunotherapy. 61
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Hospital discharges for fever and neutropenia in pediatric cancer patients: United States, 2009. 61
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Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. 61
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Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. 61
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Autism spectrum disorder: an omics perspective. 61
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Brothers with Smith-Lemli-Opitz syndrome. 61
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Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders. 61
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Tunneling in tocopherol-mediated peroxidation of 7-dehydrocholesterol. 61
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Calibration-free sinusoidal rectification and uniform retinal irradiance in scanning light ophthalmoscopy. 61
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MicroRNAs: a connection between cholesterol metabolism and neurodegeneration. 61
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The sterol-based transcriptional control of human 7-dehydrocholesterol reductase (DHCR7): Evidence of a cooperative regulatory program in cholesterol synthesis. 61
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Genotype-based databases for variants causing rare diseases. 61
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Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. 61
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[Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case]. 61
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Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1. 61
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True color scanning laser ophthalmoscopy and optical coherence tomography handheld probe. 61
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The lymphoid follicle variant of dermatomyositis. 61
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CCR7 guides migration of mesenchymal stem cell to secondary lymphoid organs: a novel approach to separate GvHD from GvL effect. 61
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Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? 61
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Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients. 61
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Cerebellar hypoplasia: differential diagnosis and diagnostic approach. 61
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On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO. 61
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Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes. 61
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A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. 61
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Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 61
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Comparison of PLA microparticles and alum as adjuvants for H5N1 influenza split vaccine: adjuvanticity evaluation and preliminary action mode analysis. 61
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7-Dehydrocholesterol metabolites produced by sterol 27-hydroxylase (CYP27A1) modulate liver X receptor activity. 61
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A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. 61
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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. 61
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Towards a quantitative OCT image analysis. 61
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Mass spectrometry for the study of autism and neurodevelopmental disorders. 61
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Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. 61
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Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. 61
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Smith-lemli-opitz syndrome: a case with annular pancreas. 61
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Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. 61
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Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. 61
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CCR7 expressing mesenchymal stem cells potently inhibit graft-versus-host disease by spoiling the fourth supplemental Billingham's tenet. 61
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The quest for knowledge transfer efficacy: blended teaching, online and in-class, with consideration of learning typologies for non-traditional and traditional students. 61
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Interference with Ca(2+) release activated Ca(2+) (CRAC) channel function delays T-cell arrest in vivo. 61
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Ion-current-based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome. 61
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Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? 61
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Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy? 61
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Characterization of human afferent lymph dendritic cells from seroma fluids. 61
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An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. 61
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Autism spectrum disorders and inborn errors of metabolism: an update. 61
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Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. 61
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Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. 61
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Abnormal motor behavior at 23 weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). 61
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Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. 61
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Smith-Lemli-Opitz syndrome - clinical consequences for dental care. 61
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Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. 61
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Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. 61
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Liver X receptors, nervous system, and lipid metabolism. 61
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Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. 61
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Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. 61
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Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. 61
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Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells. 61
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Prions and lymphoid organs: solved and remaining mysteries. 61
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Non-Mydriatic Confocal Retinal Imaging Using a Digital Light Projector. 61
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Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. 61
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Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. 61
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Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. 61
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Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. 61
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Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. 61
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Sterol metabolism disorders and neurodevelopment-an update. 61
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Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. 61
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Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. 61
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The role of maternal-fetal cholesterol transport in early fetal life: current insights. 61
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Hidden treasure in an endoscopically retrieved oesophageal trichobezoar. 61
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Delayed but effective induction of mucosal memory immune responses against genital HSV-2 in the absence of secondary lymphoid organs. 61
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Stromal and hematopoietic cells in secondary lymphoid organs: partners in immunity. 61
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A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans. 61
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First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 61
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Growth charts for individuals with Smith-Lemli-Opitz syndrome. 61
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A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome. 61
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A new class of selective and potent 7-dehydrocholesterol reductase inhibitors. 61
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A role for Th17 cells in the regulation of tertiary lymphoid follicles. 61
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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. 61
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Very high-temperature impact melt products as evidence for cosmic airbursts and impacts 12,900 years ago. 61
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Rejection of tracheal allograft by intrapulmonary lymphoid neogenesis in the absence of secondary lymphoid organs. 61
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7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. 61
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Hirschsprung's disease in the North of England: prevalence, associated anomalies, and survival. 61
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The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes. 61
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Differential effect of cholesterol and its biosynthetic precursors on membrane dipole potential. 61
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DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. 61
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Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene. 61
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Marginal reticular cells: a stromal subset directly descended from the lymphoid tissue organizer. 61
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Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. 61
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Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. 61
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Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. 61
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The effects of 7-dehydrocholesterol on the structural properties of membranes. 61
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Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses. 61
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Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. 61
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An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. 61
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Modeling cholesterol metabolism by gene expression profiling in the hippocampus. 61
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Genetic assessment following increased nuchal translucency and normal karyotype. 61
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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. 61
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Review: Transport of maternal cholesterol to the fetal circulation. 61
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Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments. 61
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[Diabetic retinopathy: comparison of the diagnostic features of ultra-widefield scanning laser ophthalmoscopy Optomap with ETDRS 7-field fundus photography]. 61
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Wide-field fundus autofluorescence corresponds to visual fields in chorioretinitis patients. 61
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A novel bacterial artificial chromosome-transgenic podoplanin-cre mouse targets lymphoid organ stromal cells in vivo. 61
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Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. 61
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Hypothesis: the role of sterols in autism spectrum disorder. 61
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The stromal and haematopoietic antigen-presenting cells that reside in secondary lymphoid organs. 61
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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? 61
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Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. 61
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Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. 61
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Smith-Lemli-Opitz syndrome: autopsy with new morphological findings. 61
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Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. 61
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Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. 61
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Ancillary benefits of prenatal maternal serum screening achieved in the California program. 61
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Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. 61
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Absence of P-selectin in recipients of allogeneic bone marrow transplantation ameliorates experimental graft-versus-host disease. 61
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Hedgehog signaling update. 61
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Visualizing early splenic memory CD8+ T cells reactivation against intracellular bacteria in the mouse. 61
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Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. 61
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Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome. 61
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Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. 61
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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. 61
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Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. 61
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Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. 61
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[The role of cholesterol in embryogenesis and the Smith-Lemli-Opitzov syndrom]. 61
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The effects of sterol structure upon sterol esterification. 61
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A lethal ovitrap-based mass trapping scheme for dengue control in Australia: II. Impact on populations of the mosquito Aedes aegypti. 61
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A lethal ovitrap-based mass trapping scheme for dengue control in Australia: I. Public acceptability and performance of lethal ovitraps. 61
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Secondary lymphoid organs: responding to genetic and environmental cues in ontogeny and the immune response. 61
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Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. 61
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Behavioral Approaches to Training Developmentally Disabled Children for an Overnight EEG Procedure. 61
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Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. 61
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Accumulation of fingolimod (FTY720) in lymphoid tissues contributes to prolonged efficacy. 61
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Photo-conversion of two epimers (20R and 20S) of pregna-5,7-diene-3beta, 17alpha, 20-triol and their bioactivity in melanoma cells. 61
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Lipid rafts, cholesterol, and the brain. 61
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Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. 61
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Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. 61
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Organizer-like reticular stromal cell layer common to adult secondary lymphoid organs. 61
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Form follows function: lymphoid tissue microarchitecture in antimicrobial immune defence. 61
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Mesenchymal stem cells alter migratory property of T and dendritic cells to delay the development of murine lethal acute graft-versus-host disease. 61
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Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple-marker screening results. 61
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Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. 61
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Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. 61
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Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. 61
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Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. 61
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[Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome]. 61
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Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species. 61
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Autism: the role of cholesterol in treatment. 61
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Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. 61
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Prevention of acute graft-versus-host disease by blocking T-cell entry to secondary lymphoid organs. 61
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Nonmydriatic screening for diabetic retinopathy by ultra-widefield scanning laser ophthalmoscopy (Optomap). 61
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Associated malformations in cases with congenital diaphragmatic hernia. 61
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Smith-Lemli-Opitz syndrome and autism spectrum disorder. 61
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Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. 61
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CCL21 expression pattern of human secondary lymphoid organ stroma is conserved in inflammatory lesions with lymphoid neogenesis. 61
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Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS. 61
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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). 61
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De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. 54
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Oxysterols: functional significance in fetal development and the maintenance of normal retinal function. 61
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Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. 61
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A novel serovar of Shigella dysenteriae from patients with diarrhoea in Bangladesh. 61
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High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. 61
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Functional analysis of cholesterol biosynthesis by RNA interference. 61
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Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. 61
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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. 61
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Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. 61
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Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. 61
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Cholesterol homeostasis in the developing brain: a possible new target for ethanol. 61
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Case report of unilateral clefting: is sonic hedgehog to blame? 61
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Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome. 61
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Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 61
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Chemokines CCL19 and CCL21 promote activation-induced cell death of antigen-responding T cells. 61
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7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: roles of NADPH oxidase, mitochondria, and lipid rafts. 61
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Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 61
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Syndrome identification based on 2D analysis software. 61
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Persistence and responsiveness of immunologic memory in the absence of secondary lymphoid organs. 61
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Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin. 61
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Cholesterol precursors and facial clefting. 61
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Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. 61
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Abnormalities of cholesterol metabolism in autism spectrum disorders. 61
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School in photodermatology: Smith-Lemli-Opitz syndrome. 61
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Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes. 61
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Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development. 61
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Task-modulation of functional synchrony between spontaneous low-frequency oscillations in the human brain detected by fMRI. 61
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Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion. 61
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Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. 61
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Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. 61
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A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis. 61
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Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. 61
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Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. 61
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Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. 61
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A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. 61
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What can adaptive optics do for a scanning laser ophthalmoscope ? 61
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Recent insights into the Smith-Lemli-Opitz syndrome. 61
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Pseudotrisomy 13: clinical findings and genetic implications. 61
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Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 61
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Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? 61
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The S1P-analog FTY720 differentially modulates T-cell homing via HEV: T-cell-expressed S1P1 amplifies integrin activation in peripheral lymph nodes but not in Peyer patches. 61
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A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study. 61
15904906 2005
601
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. 61
15774833 2005
602
Surgical implications of the Smith-Lemli-Opitz syndrome. 61
15834578 2005
603
Specific genetic disorders and autism: clinical contribution towards their identification. 61
15796126 2005
604
Scanning laser ophthalmoscopy and angiography with a wide-field contact lens system. 61
15710823 2005
605
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. 61
16280635 2005
606
[Syndromic autism: II. Genetic syndromes associated with autism]. 61
15736079 2005
607
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. 61
15702407 2005
608
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. 61
16435228 2005
609
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. 61
15877207 2005
610
Disruption of cholesterol homeostasis in the developing brain as a potential mechanism contributing to the developmental neurotoxicity of ethanol: an hypothesis. 61
15617867 2005
611
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. 61
15514417 2004
612
Oxysteroids: a new class of steroids with autocrine and paracrine functions. 61
15380811 2004
613
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. 61
15316965 2004
614
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. 61
15302661 2004
615
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. 61
15216542 2004
616
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. 61
15192627 2004
617
Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II. 61
15170811 2004
618
Smith-Lemli-Opitz syndrome. 61
15181308 2004
619
Smoking and complications of onlay bone grafts and sinus lift operations. 61
15214220 2004
620
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. 61
14594996 2004
621
Health status and social risk correlates of extended length of stay following coronary artery bypass surgery. 61
14759437 2004
622
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. 61
14715377 2004
623
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. 61
14662594 2003
624
Human malformation syndromes due to inborn errors of cholesterol synthesis. 61
14631207 2003