MCID: PRD006
MIFTS: 61

Prader-Willi Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Prader-Willi Syndrome

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 57 12 76 24 53 25 59 37 29 13 55 6 43 44 15 40
Prader-Labhart-Willi Syndrome 57 24 53 25 59
Pws 57 24 53 25
Willi-Prader Syndrome 53 25 59
Prader Willi Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
temperature instability
high pain threshold
excessive skin picking of sores
food related behavioral problems include excessive appetite and obsession with eating
decreased fetal activity
breech position
behavioral problems including stubbornness and rage
sleep disturbance or sleep apnea (obstructive, central, or mixed)
unusual skill with jigsaw puzzle

Inheritance:
isolated cases


HPO:

32
prader-willi syndrome:
Inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



Summaries for Prader-Willi Syndrome

MedlinePlus : 43 Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include Short stature Poor motor skills Weight gain Underdeveloped sex organs Mild intellectual and learning disabilities There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to prader-willi syndrome due to maternal uniparental disomy of chromosome 15 and prader-willi syndrome due to imprinting mutation. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways/superpathways is Synaptic Neurotransmission Pathways: GABAergic Inhibition. The drugs Liraglutide and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotypes are obesity and high palate

Genetics Home Reference : 25 Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

NIH Rare Diseases : 53 Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.

OMIM : 57 Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features. (176270)

Wikipedia : 76 Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns... more...

GeneReviews: NBK1330

Related Diseases for Prader-Willi Syndrome

Diseases in the Prader-Willi Syndrome family:

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Prader-Willi Syndrome Due to Translocation Prader-Willi Syndrome Due to Imprinting Mutation
Prader-Willi-Like Syndrome Due to a Point Mutation Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15

Diseases related to Prader-Willi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 124, show less)
# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 34.9 MAGEL2 NDN SNRPN
2 prader-willi syndrome due to imprinting mutation 34.9 MAGEL2 NDN SNRPN
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 34.8 MAGEL2 NDN SNRPN
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 34.8 MAGEL2 NDN SNRPN
5 angelman syndrome 33.1 GABRA5 GABRB3 MAGEL2 NDN NIPA2 NPAP1
6 autism 31.7 GABRA5 GABRB3 MAGEL2 NDN SNRPN UBE3A
7 autism spectrum disorder 31.1 GABRB3 MAGEL2 UBE3A
8 schaaf-yang syndrome 12.3
9 prader-willi syndrome due to translocation 12.2
10 prader-willi syndrome due to paternal 15q11q13 deletion 12.2
11 hypotonia 11.6
12 parkes weber syndrome 11.4
13 prader-willi habitus, osteopenia, and camptodactyly 11.3
14 wilson-turner x-linked mental retardation syndrome 11.3
15 childhood apraxia of speech 11.3
16 floppy infant syndrome 11.3
17 infantile hypotonia 11.3
18 chromosome 15q13.3 deletion syndrome 11.1 NPAP1 UBE3A
19 angelman syndrome due to imprinting defect in 15q11-q13 10.9 SNRPN UBE3A
20 chromosomal disease 10.8 GABRB3 IPW MAGEL2 MKRN3 NDN SNRPN
21 childhood absence epilepsy 10.7 GABRA5 GABRB3 NIPA2
22 childhood electroclinical syndrome 10.6 GABRA5 GABRB3
23 aging 10.5
24 scoliosis 10.5
25 morbid obesity 10.5
26 sleep disorder 10.4
27 neuronitis 10.4
28 diabetes mellitus 10.4
29 hypogonadism 10.4
30 diabetes mellitus, noninsulin-dependent 10.4
31 body mass index quantitative trait locus 1 10.4
32 down syndrome 10.3
33 williams-beuren syndrome 10.3
34 sleep apnea 10.3
35 thyroiditis 10.3
36 growth hormone deficiency 10.3
37 apnea, obstructive sleep 10.3
38 epilepsy 10.3
39 precocious puberty 10.3
40 hypersomnia 10.3
41 fragile x syndrome 10.2
42 alacrima, achalasia, and mental retardation syndrome 10.2
43 cerebritis 10.2
44 pancreatitis 10.2
45 mosaic trisomy 15 10.2
46 arteries, anomalies of 10.1
47 sotos syndrome 1 10.1
48 insulin-like growth factor i 10.1
49 coronary artery anomaly 10.1
50 glomerulonephritis 10.1
51 oculocutaneous albinism 10.1
52 respiratory failure 10.1
53 hypothyroidism 10.1
54 panniculitis 10.1
55 hypothalamic disease 10.1
56 gastric dilatation 10.1
57 polyhydramnios 10.1
58 albinism 10.1
59 central precocious puberty 10.1
60 alzheimer disease 10.0
61 cardiac conduction defect 10.0
62 kleine-levin hibernation syndrome 10.0
63 systemic lupus erythematosus 10.0
64 moebius syndrome 10.0
65 obsessive-compulsive disorder 10.0
66 osteoporosis 10.0
67 palatopharyngeal incompetence 10.0
68 smith-magenis syndrome 10.0
69 thrombophilia due to thrombin defect 10.0
70 lipoid congenital adrenal hyperplasia 10.0
71 cerebellar hypoplasia 10.0
72 charge syndrome 10.0
73 cohen syndrome 10.0
74 obesity-hypoventilation syndrome 10.0
75 tay-sachs disease 10.0
76 hypomelanosis of ito 10.0
77 muscular dystrophy, duchenne type 10.0
78 norrie disease 10.0
79 transsexuality 10.0
80 trimethylaminuria 10.0
81 anorexia nervosa 10.0
82 factor xi deficiency 10.0
83 microvascular complications of diabetes 5 10.0
84 temple syndrome 10.0
85 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
86 dilated cardiomyopathy 10.0
87 hepatitis 10.0
88 lymphedema 10.0
89 spinal cord injury 10.0
90 congenital hypothyroidism 10.0
91 ocular albinism 10.0
92 distal arthrogryposis 10.0
93 fetal alcohol syndrome 10.0
94 metabolic acidosis 10.0
95 thrombosis 10.0
96 hypogonadotropic hypogonadism 10.0
97 transsexualism 10.0
98 ovarian disease 10.0
99 cardiac tamponade 10.0
100 gastroparesis 10.0
101 intermittent explosive disorder 10.0
102 dementia 10.0
103 ectropion 10.0
104 constipation 10.0
105 membranoproliferative glomerulonephritis 10.0
106 periodontal disease 10.0
107 craniopharyngioma 10.0
108 infertility 10.0
109 compartment syndrome 10.0
110 periodontitis 10.0
111 duodenitis 10.0
112 lupus erythematosus 10.0
113 muscular dystrophy 10.0
114 isodicentric 15 10.0
115 congenital hepatic fibrosis 10.0
116 47, xxy 10.0
117 chromosome 15q deletion 10.0
118 chromosome 9p duplication 10.0
119 neonatal hypothyroidism 10.0
120 slipped capital femoral epiphysis 10.0
121 depression 10.0
122 seizure disorder 10.0
123 endotheliitis 10.0
124 congenital ectropion uveae 10.0

Graphical network of the top 20 diseases related to Prader-Willi Syndrome:



Diseases related to Prader-Willi Syndrome

Symptoms & Phenotypes for Prader-Willi Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
syndactyly
small hands (<25th percentile for height age)
narrow hands with straight ulnar border

Neurologic Central Nervous System:
seizures
global developmental delay
poor fine motor coordination
poor gross motor coordination
sleep disturbances
more
Head And Neck Eyes:
strabismus
myopia
hyperopia
upslanting palpebral fissures
almond-shaped eyes

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
hyperinsulinemia
growth hormone deficiency
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
scrotal hypoplasia
hypogonadotropic hypogonadism
small penis

Genitourinary External Genitalia Female:
hypoplastic labia minora
hypoplastic clitoris

Head And Neck Mouth:
thin upper lip
small-appearing mouth
down-turned corners of mouth
thick, viscous saliva

Voice:
hypernasal speech
weak or squeaky cry in infancy

Head And Neck Face:
narrow bitemporal diameter

Abdomen Gastrointestinal:
feeding problems in infancy requiring gavage feeds
decreased vomiting

Skin Nails Hair Hair:
blonde to light brown hair
frontal hair upsweep

Skeletal:
osteopenia
osteoporosis

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
dolichocephaly

Growth Weight:
failure to thrive in infancy
onset of obesity from 6 months to 6 years
central obesity

Respiratory:
hypoventilation
hypoxia

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

Growth Height:
normal birth length
length deceleration in first few months
mean adult male height, 155 cm
mean adult female height, 147 cm
steady childhood growth
more
Skin Nails Hair Skin:
fair skin
sun sensitivity

Skin Nails Hair:
hypopigmentation

Head And Neck Teeth:
early dental caries

Skeletal Feet:
small feet (<10th percentile for height age)


Clinical features from OMIM:

176270

Human phenotypes related to Prader-Willi Syndrome:

59 32 (showing 92, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
9 global developmental delay 59 32 hallmark (90%) Frequent (79-30%) HP:0001263
10 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 59 32 hallmark (90%) Frequent (79-30%) HP:0004322
13 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 short palm 59 32 hallmark (90%) Frequent (79-30%) HP:0004279
16 cryptorchidism 59 32 very rare (1%) Frequent (79-30%) HP:0000028
17 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
18 specific learning disability 59 32 hallmark (90%) Frequent (79-30%) HP:0001328
19 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Frequent (79-30%) HP:0000044
20 glomerulopathy 59 32 frequent (33%) Frequent (79-30%) HP:0100820
21 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
22 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
23 hypoplasia of the ear cartilage 59 32 frequent (33%) Frequent (79-30%) HP:0100720
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
26 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
27 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
28 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
29 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
30 abnormal hair pattern 59 32 frequent (33%) Frequent (79-30%) HP:0010720
31 clinodactyly 32 HP:0030084
32 precocious puberty 32 very rare (1%) HP:0000826
33 osteopenia 32 occasional (7.5%) HP:0000938
34 kyphosis 32 frequent (33%) HP:0002808
35 sleep apnea 32 frequent (33%) HP:0010535
36 hip dysplasia 32 very rare (1%) HP:0001385
37 recurrent respiratory infections 32 frequent (33%) HP:0002205
38 type ii diabetes mellitus 32 very rare (1%) HP:0005978
39 carious teeth 32 occasional (7.5%) HP:0000670
40 delayed speech and language development 32 hallmark (90%) HP:0000750
41 feeding difficulties in infancy 32 HP:0008872
42 delayed puberty 32 frequent (33%) HP:0000823
43 osteoporosis 32 occasional (7.5%) HP:0000939
44 decreased muscle mass 32 frequent (33%) HP:0003199
45 dolichocephaly 32 HP:0000268
46 short foot 32 hallmark (90%) HP:0001773
47 autism 32 very rare (1%) HP:0000717
48 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018
49 primary amenorrhea 32 very rare (1%) HP:0000786
50 failure to thrive in infancy 32 hallmark (90%) HP:0001531
51 myopia 32 occasional (7.5%) HP:0000545
52 hyperinsulinemia 32 HP:0000842
53 poor fine motor coordination 32 occasional (7.5%) HP:0007010
54 ventriculomegaly 32 frequent (33%) HP:0002119
55 hypogonadism 32 HP:0000135
56 hypopigmentation of hair 32 very rare (1%) HP:0005599
57 psychosis 32 very rare (1%) HP:0000709
58 small hand 32 HP:0200055
59 upslanted palpebral fissure 32 occasional (7.5%) HP:0000582
60 impaired pain sensation 32 frequent (33%) HP:0007328
61 nasal speech 32 frequent (33%) HP:0001611
62 thin upper lip vermilion 32 frequent (33%) HP:0000219
63 generalized hypopigmentation 32 HP:0007513
64 narrow nasal bridge 32 frequent (33%) HP:0000446
65 cutaneous photosensitivity 32 frequent (33%) HP:0000992
66 decreased fetal movement 32 HP:0001558
67 polyphagia 32 hallmark (90%) HP:0002591
68 infertility 32 hallmark (90%) HP:0000789
69 iris hypopigmentation 32 very rare (1%) HP:0007730
70 motor delay 32 hallmark (90%) HP:0001270
71 hypoventilation 32 HP:0002791
72 scrotal hypoplasia 32 very rare (1%) HP:0000046
73 truncal obesity 32 HP:0001956
74 micropenis 32 frequent (33%) HP:0000054
75 poor suck 32 hallmark (90%) HP:0002033
76 almond-shaped palpebral fissure 32 frequent (33%) HP:0007874
77 generalized hypotonia 32 hallmark (90%) HP:0001290
78 adrenal insufficiency 32 very rare (1%) HP:0000846
79 esotropia 32 occasional (7.5%) HP:0000565
80 radial deviation of finger 32 occasional (7.5%) HP:0009466
81 clitoral hypoplasia 32 frequent (33%) HP:0000060
82 syndactyly 32 occasional (7.5%) HP:0001159
83 growth hormone deficiency 32 hallmark (90%) HP:0000824
84 hypermetropia 32 HP:0000540
85 hypoplastic labia minora 32 frequent (33%) HP:0000064
86 narrow forehead 32 frequent (33%) HP:0000341
87 oligomenorrhea 32 frequent (33%) HP:0000876
88 abdominal obesity 32 HP:0012743
89 poor gross motor coordination 32 HP:0007015
90 temperature instability 32 occasional (7.5%) HP:0005968
91 frontal upsweep of hair 32 occasional (7.5%) HP:0002236
92 narrow palm 32 hallmark (90%) HP:0004283

Drugs & Therapeutics for Prader-Willi Syndrome

Drugs for Prader-Willi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 73, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
2 Hormone Antagonists Phase 4,Phase 3,Not Applicable
3 Hormones Phase 4,Phase 3,Not Applicable
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
5 Hypoglycemic Agents Phase 4,Phase 3,Not Applicable
6 Incretins Phase 4,Phase 3,Not Applicable
7
Oxytocin Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 50-56-6 439302 53477758
8
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
9
Octreotide Approved, Investigational Phase 3,Not Applicable 83150-76-9 383414 6400441
10
Topiramate Approved Phase 3,Not Applicable 97240-79-4 5284627
11
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
12 Oxytocics Phase 2, Phase 3,Phase 1,Not Applicable
13 Cannabinoid Receptor Antagonists Phase 3
14 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
15 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
16 Gastrointestinal Agents Phase 3,Phase 1,Phase 2,Not Applicable
17 Anticonvulsants Phase 3,Not Applicable
18 Anti-Obesity Agents Phase 3,Not Applicable
19 Neuroprotective Agents Phase 3,Not Applicable
20 Protective Agents Phase 3,Not Applicable
21
Diazoxide Approved Phase 1, Phase 2,Phase 2 364-98-7 3019
22
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
23
Choline Approved, Nutraceutical Phase 1, Phase 2,Phase 2 62-49-7 305
24
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
25 Antihypertensive Agents Phase 1, Phase 2,Phase 2
26 Antimetabolites Phase 1, Phase 2,Phase 2,Not Applicable
27 Hypolipidemic Agents Phase 1, Phase 2,Phase 2
28 Lipid Regulating Agents Phase 1, Phase 2,Phase 2
29 Nootropic Agents Phase 1, Phase 2,Phase 2
30 Vasodilator Agents Phase 1, Phase 2,Phase 2
31 Adrenergic Agents Phase 2,Not Applicable
32 Autonomic Agents Phase 2,Not Applicable
33 Peripheral Nervous System Agents Phase 2,Not Applicable
34 Pharmaceutical Solutions Phase 2
35 Adrenergic Antagonists Phase 2
36 Adrenergic beta-1 Receptor Antagonists Phase 2
37 Adrenergic beta-Antagonists Phase 2
38 Anti-Arrhythmia Agents Phase 2
39 Sympatholytics Phase 2
40
Exenatide Approved, Investigational Not Applicable 141758-74-9 15991534
41
Menthol Approved Not Applicable 2216-51-5 16666
42
Hydrocortisone Approved, Vet_approved ,Not Applicable 50-23-7 5754
43
Cosyntropin Approved Not Applicable 16960-16-0 16129617
44
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
45
Metyrapone Approved, Investigational Not Applicable 54-36-4 4174
46
Racepinephrine Approved Not Applicable 329-65-7 838
47
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
48 Glucagon-Like Peptide 1 Not Applicable
49 Anesthetics Not Applicable
50 Cortisol succinate ,Not Applicable
51 Hydrocortisone 17-butyrate 21-propionate ,Not Applicable
52 Hydrocortisone acetate ,Not Applicable
53 Adrenergic Agonists Not Applicable
54 Adrenergic alpha-Agonists Not Applicable
55 Adrenergic beta-Agonists Not Applicable
56 Anti-Asthmatic Agents Not Applicable
57 Bronchodilator Agents Not Applicable
58 Epinephryl borate Not Applicable
59 Mydriatics Not Applicable
60 Respiratory System Agents Not Applicable
61 Vasoconstrictor Agents Not Applicable
62 Liver Extracts Not Applicable
63 insulin Not Applicable
64 Insulin, Globin Zinc Not Applicable
65 Arginine Vasopressin Not Applicable
66 Vasopressins Not Applicable
67 Aromatase Inhibitors Not Applicable
68 Estrogen Antagonists Not Applicable
69 Estrogens Not Applicable
70 Steroid Synthesis Inhibitors Not Applicable
71 Poke Nutraceutical
72 arginine Nutraceutical Not Applicable
73 Bifidobacterium Nutraceutical Not Applicable

Interventional clinical trials:

(showing 73, show less)
# Name Status NCT ID Phase Drugs
1 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
2 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
3 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
4 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Unknown status NCT02804373 Phase 2, Phase 3 Oxytocin continuous;Placebo;Placebo continuous;Oxytocin
5 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
6 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
7 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Completed NCT02204163 Phase 3 Eutropin;Genotropin
8 A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome Recruiting NCT03440814 Phase 3 DCCR;Placebo for DCCR
9 A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome Recruiting NCT03554031 Phase 3 Recombinant Human Growth Hormone (rhGH) Injection
10 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome Recruiting NCT02527200 Phase 3 liraglutide;placebo
11 Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome Terminated NCT02179151 Phase 3 ZGN-440 for Injectable Suspension;ZGN-440 Placebo for Injectable Suspension
12 Prader-Willi Syndrome and Appetite Terminated NCT00175305 Phase 3 Sandostatin LAR
13 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
14 Intranasal Oxytocin for Infants With Prader-Willi Syndrome Completed NCT03245762 Phase 1, Phase 2 Oxytocin;Placebo
15 Ph 2 Trial to Evaluate Safety & Efficacy of RM-493 in Obese Patients With Prader-Willi Syndrome Completed NCT02311673 Phase 2 RM-493;Placebo
16 Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Completed NCT02034071 Phase 1, Phase 2 DCCR;Placebo
17 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
18 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
19 An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome Completed NCT01818921 Phase 2 ZGN-440 sterile diluent;1.2 mg ZGN-440 for injectable suspension;1.8 mg ZGN-440 for injectable suspension
20 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
21 Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo Completed NCT01038570 Phase 2 Syntocinon®/- Spray;Physiological serum (Sodium chloride)
22 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies Completed NCT01548521 Phase 1, Phase 2 Oxytocin
23 A Study of GLWL-01 in Patients With Prader-Willi Syndrome Recruiting NCT03274856 Phase 2 GLWL-01;Placebo
24 Cannabidiol Oral Solution for the Treatment of Subjects With Prader-Willi Syndrome Recruiting NCT02844933 Phase 2 Cannabidiol;Placebo
25 Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
26 Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS) Recruiting NCT03149445 Phase 2 Tesofensine/Metoprolol;Placebos
27 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Active, not recruiting NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
28 A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Patients With Prader-Willi Syndrome Not yet recruiting NCT03458416 Phase 2 Cannabidiol Oral Solution
29 A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR) Not yet recruiting NCT02893618 Phase 2 Diazoxide choline controlled-release tablet
30 Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome Unknown status NCT02297022 Phase 1
31 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1 Intranasal oxytocin
32 Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
33 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
34 Experience With Growth Hormone (GH) in Children Under 2 Years With Prader-Willi Syndrome (PWS) in the Pediatric Endocrine Department of the Hospital of Sabadell Unknown status NCT02205450 Recombinant Somatropin
35 Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome Unknown status NCT00551343 Not Applicable Exenatide
36 Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study Unknown status NCT02058342 Not Applicable
37 Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome Unknown status NCT00808548
38 Post Exercise Irisin Levels in PWS Patients Unknown status NCT02728544 Not Applicable
39 PWS European Blood Bank for Infants and Controls From 0 to 48 Months Unknown status NCT02529085 Not Applicable
40 PREPL in Health and Disease Unknown status NCT02263781 Not Applicable
41 Hypoglycemia in Prader-Willi Syndrome Completed NCT01897363
42 Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity Completed NCT00375089
43 Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome Completed NCT01622751
44 Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome Completed NCT01479322
45 Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome Completed NCT01444898 Not Applicable Exenatide
46 Cortisol Activity in Patients With Prader-Willi Syndrome and Healthy Controls Completed NCT00932932
47 Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation-induced Modulation of Hyperphagia in Prader-Willi Syndrome Completed NCT01863017 Not Applicable
48 Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome Completed NCT00705172 somatropin
49 Increased Expression of Adiponectin Receptor 2 in the Mononuclear Cells in Children With Prader-Willi Syndrome Completed NCT00800852
50 Prader-Willi Syndrome Macronutrient Study Completed NCT02011360 Not Applicable
51 Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome Completed NCT02368379 Not Applicable
52 Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome Completed NCT00065923 Not Applicable Topiramate
53 Nordic Study on the Effects of Growth Hormone (Norditropin SimpleXx) Treatment in Adults With Prader-Willi Syndrome Completed NCT00372125 Not Applicable Norditropin SimpleXx
54 The Intestinal Function in People With Prader-Willi Syndrome Completed NCT01523288
55 Effects of Progressive Elastic Band Resistance Training Completed NCT03565081 Not Applicable
56 Ghrelin Suppression by Octreotide in Prader-Willi Completed NCT01613495 Not Applicable Placebo;Octreotide
57 Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome Completed NCT00474643
58 Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity Completed NCT01404624
59 Macronutrient Regulation of Ghrelin and Peptide YY Completed NCT02464514 Not Applicable
60 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
61 Brain-Derived Neurotrophic Factor in Obesity and Brain Function Completed NCT01517048
62 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
63 Follow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants. Recruiting NCT03081832 Not Applicable Oxytocin
64 Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years Recruiting NCT03114371 Not Applicable Oxytocin;Placebo;Oxytocin
65 Register of Patients With Prader-Willi Syndrome Recruiting NCT02829684
66 Optimizing the Social Engagement System in Prader-Willi Syndrome: Insights From the Polyvagal Theory Recruiting NCT03101826 Not Applicable
67 B. Lactis B94 Effects of Gastrointestinal Function Recruiting NCT03277157 Not Applicable
68 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
69 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
70 Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome Active, not recruiting NCT01520467 Not Applicable Anastrozole;Placebo
71 Targeting the Gut Microbiome for Prader-Willi Syndrome Treatment Enrolling by invitation NCT03548480 Not Applicable
72 Effects of Transcranial Direct Current Stimulation (tDCS) on Individuals With Prader-Willi Syndrome Enrolling by invitation NCT03324906 Not Applicable
73 Octreotide Therapy in Children and Young Adults With Prader-Willi Syndrome (PWS) Terminated NCT00399893 Not Applicable Octreotide;Placebo

Search NIH Clinical Center for Prader-Willi Syndrome

Cochrane evidence based reviews: prader-willi syndrome

Genetic Tests for Prader-Willi Syndrome

Genetic tests related to Prader-Willi Syndrome:

# Genetic test Affiliating Genes
1 Prader-Willi Syndrome 29 HERC2 IPW MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 SNRPN

Anatomical Context for Prader-Willi Syndrome

MalaCards organs/tissues related to Prader-Willi Syndrome:

41
Skin, Brain, Testes, Bone, Eye, Pituitary, Endothelial

Publications for Prader-Willi Syndrome

Articles related to Prader-Willi Syndrome:

(showing 974, show less)
# Title Authors Year
1
Changes in body composition, blood lipid profile, and growth factor hormone in a patient with Prader-willi syndrome during 24 weeks of complex exercise: a single case study. ( 29673244 )
2018
2
Orthognathic Correction in Prader-Willi Syndrome: Occlusion and Sleep Restored. ( 29750570 )
2018
3
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. ( 29730598 )
2018
4
Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. ( 29437285 )
2018
5
Bone mineral density in young adults with Prader-Willi syndrome: a randomized, placebo-controlled, cross-over GH trial. ( 29418016 )
2018
6
The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS). ( 29309382 )
2018
7
Test-retest reliability of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition for youth with Prader-Willi syndrome. ( 29920333 )
2018
8
Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome. ( 29371863 )
2018
9
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. ( 29681103 )
2018
10
Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome. ( 29925684 )
2018
11
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. ( 29352661 )
2018
12
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. ( 29496979 )
2018
13
Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. ( 29433608 )
2018
14
The associations between diet and physical activity with body composition and walking a timed distance in adults with Prader-Willi syndrome. ( 29942245 )
2018
15
Eye Tracking as a Marker of Hyperphagia in Prader-Willi Syndrome. ( 29412007 )
2018
16
Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome. ( 29800646 )
2018
17
Impaired melanocortin pathway function in Prader-Willi Syndrome gene-Magel2 deficient mice. ( 29878108 )
2018
18
No central adrenal insufficiency found in patients with Prader-Willi syndrome with an overnight metyrapone test. ( 29959886 )
2018
19
Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. ( 29324255 )
2018
20
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
21
Functional independence of Taiwanese children with Prader-Willi syndrome. ( 29696774 )
2018
22
The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial. ( 29703235 )
2018
23
The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome. ( 29975666 )
2018
24
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. ( 29776967 )
2018
25
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. ( 29401073 )
2018
26
Analysis of Circulating Mediators of Bone Remodeling in Prader-Willi Syndrome. ( 29353451 )
2018
27
Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. ( 29376887 )
2018
28
Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome. ( 29666169 )
2018
29
Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome? ( 29685165 )
2018
30
Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome. ( 29696788 )
2018
31
AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial. ( 29320575 )
2018
32
Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. ( 29318372 )
2018
33
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
34
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. ( 29590610 )
2018
35
Prader-Willi syndrome: a nest for premature coronary artery disease? ( 29437709 )
2018
36
Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here? ( 29376891 )
2018
37
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. ( 29271568 )
2018
38
Autoimmune pituitary involvement in Prader-Willi syndrome: new perspective for further research. ( 29968227 )
2018
39
Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report. ( 29335890 )
2018
40
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. ( 27941249 )
2017
41
Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2. ( 28626083 )
2017
42
Long-term health outcomes in patients with Prader-Willi Syndrome: a nationwide cohort study in Denmark. ( 28634363 )
2017
43
Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens. ( 28427039 )
2017
44
&amp;quot;La Monstrua Desnuda&amp;quot;: an artistic textbook representation of Prader-Willi syndrome in a painting of Juan CarreA+o de Miranda (1680). ( 28239764 )
2017
45
Growth Hormone Treatment in Children With Prader-Willi Syndrome: Three Years of Longitudinal Data in Prepubertal Children and Adult Height Data From the KIGS Database. ( 28323917 )
2017
46
Cognition in people with Prader-Willi syndrome: Insights into genetic influences on cognitive and social development. ( 27836461 )
2017
47
Clinical and Molecular Characterization of Prader-Willi Syndrome. ( 28660389 )
2017
48
Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass. ( 28503414 )
2017
49
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. ( 28659150 )
2017
50
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly. ( 28266014 )
2017
51
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy. ( 28746920 )
2017
52
Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome. ( 28588153 )
2017
53
A Review of the Safety, Efficacy and Mechanisms of Delivery of Nasal Oxytocin in Children: Therapeutic Potential for Autism and Prader-Willi Syndrome, and Recommendations for Future Research. ( 28721467 )
2017
54
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. ( 28371242 )
2017
55
Special Care Dentistry in a Patient with Prader-Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia. ( 29318056 )
2017
56
Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study. ( 28834083 )
2017
57
[Neonatal presentation of Prader-Willi syndrome: A report of five cases]. ( 28967604 )
2017
58
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum. ( 28638668 )
2017
59
Effectiveness of Adenotonsillectomy and Risk of Velopharyngeal Insufficiency in Children With Prader-Willi Syndrome. ( 28895429 )
2017
60
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
61
The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways. ( 28973533 )
2017
62
Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. ( 28592997 )
2017
63
The use of magnetic resonance imaging to characterize abnormal body composition phenotypes in youth with Prader-Willi syndrome. ( 28285653 )
2017
64
Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay. ( 28296064 )
2017
65
Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome. ( 28338743 )
2017
66
Evaluating the Feasibility of a Play-Based Telehealth Intervention Program for Children with Prader-Willi Syndrome. ( 28612246 )
2017
67
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. ( 28487784 )
2017
68
Hedonic eating in Prader-Willi syndrome is associated with blunted PYY secretion. ( 28659728 )
2017
69
Physical activity and maximal oxygen uptake in adults with Prader-Willi syndrome. ( 28299717 )
2017
70
Circulating angiopoietin-like 8 (ANGPTL8) is a marker of liver steatosis and is negatively regulated by Prader-Willi Syndrome. ( 28600576 )
2017
71
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes. ( 28973544 )
2017
72
Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis. ( 28510708 )
2017
73
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability: A Case Study. ( 28383347 )
2017
74
The dilemma of diagnostic testing for Prader-Willi syndrome. ( 28164030 )
2017
75
Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study. ( 29390364 )
2017
76
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? ( 27941250 )
2017
77
Prader-Willi Syndrome: Background and Management. ( 28494825 )
2017
78
Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study. ( 28264487 )
2017
79
Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. ( 28682308 )
2017
80
Rigidity in routines and the development of resistance to change in individuals with Prader-Willi syndrome. ( 28266087 )
2017
81
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience. ( 28854950 )
2017
82
Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome. ( 28331554 )
2017
83
Topiramate in the treatment of Prader-Willi syndrome: A case report. ( 29955490 )
2017
84
Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype. ( 29440778 )
2017
85
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
86
Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome. ( 28466625 )
2016
87
A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy. ( 27982202 )
2016
88
Nutritional intervention with hypocaloric diet for weight control in children and adolescents with Prader-Willi Syndrome. ( 26970733 )
2016
89
Microscopic structure of dental hard tissues in primary and permanent teeth from individuals with Prader-Willi syndrome. ( 26913968 )
2016
90
Targeting the endocannabinoid/CB1 receptor system for treating obesity in Prader-Willi syndrome. ( 27900261 )
2016
91
An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome. ( 27453871 )
2016
92
Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. ( 26883647 )
2016
93
Benefits and Limitations of Prenatal Screening for Prader-Willi Syndrome. ( 27537837 )
2016
94
Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls. ( 27214028 )
2016
95
Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. ( 27481444 )
2016
96
Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe. ( 27038627 )
2016
97
High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome. ( 27146407 )
2016
98
Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial. ( 27852283 )
2016
99
Baroreflex Dysfunction in Prader Willi Syndrome. ( 27134867 )
2016
100
Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. ( 27931246 )
2016
101
Reply to Letter to the Editor: Acylated and unacylated ghrelin during OGTT in Prader-Willi syndrome, a rebuttal to the conclusions by Kuppens et al. ( 27144882 )
2016
102
Prader-Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent. ( 27028699 )
2016
103
Acylated and unacylated ghrelin during OGTT in Prader-Willi syndrome: A rebuttal to the conclusions by Kuppens et al. ( 27037909 )
2016
104
Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome. ( 26888082 )
2016
105
Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome. ( 27036220 )
2016
106
Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome. ( 27071367 )
2016
107
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. ( 27121248 )
2016
108
Feeding, eating and behavioral disturbances in Prader-Willi syndrome and non-syndromal obesity. ( 27331306 )
2016
109
Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome. ( 26738920 )
2016
110
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. ( 27854358 )
2016
111
Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. ( 27672550 )
2016
112
A Rare Association of Obesity, Diabetes Mellitus and Bilateral Cryptorchidism: Prader - Willi Syndrome. ( 27805351 )
2016
113
Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype? ( 28694852 )
2016
114
Effect of genotype and previous growth hormone treatment on adiposity in adults with Prader-Willi syndrome. ( 27662437 )
2016
115
Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). ( 27894106 )
2016
116
Adult Prader-Willi Syndrome: An Update on Management. ( 27375909 )
2016
117
Indices of Adiposity by Weight Status in Children With and Without Prader-Willi Syndrome: 3670 Board #109 June 4, 8: 00 AM - 9: 30 AM. ( 27362036 )
2016
118
Drug-induced sleep endoscopy in children with Prader-Willi syndrome. ( 27059377 )
2016
119
Behavioral and emotional manifestations in a child with Prader-Willi syndrome. ( 27605867 )
2016
120
Promising effects of oxytocin on social and food-related behaviour in young children with Prader-Willi syndrome: a randomized, double-blind, controlled crossover trial. ( 27486141 )
2016
121
Higher plasma orexin a levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls. ( 27518917 )
2016
122
Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome. ( 28111641 )
2016
123
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. ( 27659713 )
2016
124
Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment. ( 26842920 )
2016
125
Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings. ( 26615966 )
2016
126
Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome. ( 27377921 )
2016
127
Beneficial effects of growth hormone in young adults with Prader-Willi syndrome: a 2-year cross-over trial. ( 27552545 )
2016
128
Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. ( 27426895 )
2016
129
Mechanisms of obesity in Prader-Willi syndrome. ( 27863129 )
2016
130
Association between physical activity and bone in children with Prader-Willi syndrome. ( 27159915 )
2016
131
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. ( 28024084 )
2016
132
Prader-Willi syndrome in neonates: twenty cases and review of the literature in Southern China. ( 27506196 )
2016
133
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. ( 28933382 )
2016
134
Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome. ( 28007570 )
2016
135
Deficits in voice and multisensory processing in patients with Prader-Willi syndrome. ( 26994593 )
2016
136
Erratum: Postprandial metabolism in adults with prader-willi syndrome. ( 27460716 )
2016
137
Respiratory Complications in Children with Prader Willi Syndrome. ( 27839656 )
2016
138
Aripiprazole in the Treatment of Obsessive Compulsive Disorder and Aggressive Behaviors in a Child With Prader Willi Syndrome: A Case Report. ( 27518476 )
2016
139
Diagnosis and treatment of GH deficiency in Prader-Willi syndrome. ( 27974191 )
2016
140
Response to letter to the editor by Scheimann, Miller, and Glaze: Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi Syndrome: A matched control study. ( 27986576 )
2016
141
Use of a venting PEG tube in the management of recurrent acute gastric dilatation associated with Prader-Willi syndrome. ( 26763981 )
2016
142
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome. ( 27685845 )
2016
143
Quality of life in children with Prader Willi Syndrome: Parent and child reports. ( 27433979 )
2016
144
Economic burden and health-related quality of life associated with Prader-Willi syndrome in France. ( 27174598 )
2016
145
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome. ( 28004416 )
2016
146
Sedentary Behavior is Negatively Associated with Hip Bone Mineralization in Youth with Prader-Willi Syndrome: 1134 Board #8 June 1, 3: 15 PM - 5: 15 PM. ( 27584290 )
2016
147
Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics. ( 27857842 )
2016
148
Ambient temperature modulates the effects of the Prader-Willi syndrome candidate gene Snord116 on energy homeostasis. ( 27823858 )
2016
149
A mindfulness-based intervention for self-management of verbal and physical aggression by adolescents with Prader-Willi syndrome. ( 27019027 )
2016
150
Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study. ( 27381990 )
2016
151
Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study. ( 26279206 )
2015
152
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion. ( 25883926 )
2015
153
Growth Hormone Therapy in Adults with Prader-Willi Syndrome. ( 28943608 )
2015
154
Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat. ( 26526156 )
2015
155
Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome. ( 26329144 )
2015
156
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. ( 25900722 )
2015
157
Caralluma Fimbriata Supplementation Improves the Appetite Behavior of Children and Adolescents with Prader-Willi Syndrome. ( 26713299 )
2015
158
Biofeedback therapy for chronic constipation in a patient with Prader-Willi syndrome. ( 26423048 )
2015
159
EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME. ( 27570781 )
2015
160
Does segmental body composition differ in women with Prader-Willi syndrome compared to women with essential obesity? ( 25840793 )
2015
161
Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes. ( 25691410 )
2015
162
High plasma neurotensin levels in children with Prader-Willi syndrome. ( 25847417 )
2015
163
Response to the Letter to the Editor: laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi Syndrome: a matched control study. ( 26575355 )
2015
164
Metabolic profiling in Prader-Willi syndrome and nonsyndromic obesity: sex differences and the role of growth hormone. ( 25736874 )
2015
165
Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals. ( 25925349 )
2015
166
Polyhydramnios associated with Prader-Willi syndrome. ( 26271012 )
2015
167
Behavioural characteristics of the Prader-Willi syndrome related biallelic Snord116 mouse model. ( 26259850 )
2015
168
Cognitive and behavioural aspects of Prader-Willi syndrome. ( 25599341 )
2015
169
[The reproductive system in Prader-Willi syndrome]. ( 25962248 )
2015
170
Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome. ( 26446116 )
2015
171
Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome. ( 25926624 )
2015
172
Macronutrient Regulation of Ghrelin and Peptide YY in Pediatric Obesity and Prader-Willi Syndrome. ( 26259133 )
2015
173
Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study. ( 25851435 )
2015
174
Autism spectrum disorder in Prader-Willi syndrome: A systematic review. ( 26331980 )
2015
175
Medication Trials for Hyperphagia and Food-Related Behaviors in Prader-Willi Syndrome. ( 28943610 )
2015
176
A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome. ( 25677112 )
2015
177
Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome. ( 26334732 )
2015
178
Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome. ( 28943631 )
2015
179
Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial. ( 25764996 )
2015
180
Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments. ( 26475993 )
2015
181
Bone mineral density in children and adolescents with prader-willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment. ( 25668198 )
2015
182
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. ( 26323055 )
2015
183
Relationship between Antipsychotics and Weight in Patients with Prader-Willi Syndrome. ( 25809177 )
2015
184
Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. ( 25755074 )
2015
185
Gall bladder agenesis in Prader Willi syndrome. ( 25729700 )
2015
186
Psychiatric disorders in children with Prader-Willi syndrome-Results of a 2-year longitudinal study. ( 25712902 )
2015
187
Polyhydramnios associated with Prader-Willi syndrome. ( 26291428 )
2015
188
Obstructive sleep apnea in Prader-Willi syndrome: risks and advantages of adenotonsillectomy. ( 26429118 )
2015
189
Comparative molecular approaches in Prader-Willi syndrome diagnosis. ( 26335514 )
2015
190
Long-term echocardiographic and cardioscintigraphic effects of growth hormone treatment in adults with Prader-Willi syndrome. ( 25710568 )
2015
191
Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome. ( 25832033 )
2015
192
Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader-Willi syndrome. ( 25989955 )
2015
193
Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade. ( 26345685 )
2015
194
Visual-motor integration in children with Prader-Willi syndrome. ( 25871504 )
2015
195
Increased plasma chemokine levels in children with Prader-Willi syndrome. ( 25691409 )
2015
196
Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi syndrome: a matched-control study. ( 26431633 )
2015
197
Growth patterns of Chinese patients with Prader-Willi syndrome. ( 25900037 )
2015
198
A new look at weight loss surgery for children and adolescents with Prader-Willi syndrome. ( 26507938 )
2015
199
Prediction of basal metabolic rate in patients with Prader-Willi syndrome. ( 26395435 )
2015
200
Food for thought: Complications of acute gastric distension in Prader-Willi syndrome. ( 25835332 )
2015
201
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome. ( 25653019 )
2015
202
IGF-1 Levels, Complex Formation, and IGF Bioactivity in Growth Hormone-Treated Children With Prader-Willi Syndrome. ( 26050733 )
2015
203
The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. ( 24482533 )
2014
204
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs. ( 24760766 )
2014
205
The characteristics of scoliosis in Prader-Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS. ( 25253244 )
2014
206
Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain. ( 25482058 )
2014
207
Growth hormone treatment improves vitality and behavioural issues in children with Prader-Willi syndrome. ( 25263744 )
2014
208
Velopharyngeal dysfunction in children with Prader-Willi syndrome after adenotonsillectomy. ( 25130946 )
2014
209
Prader-Willi syndrome can be diagnosed prenatally. ( 25338954 )
2014
210
The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome. ( 24816254 )
2014
211
Prevalence of Prader-Willi syndrome among infants with hypotonia. ( 24582009 )
2014
212
Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report. ( 24742112 )
2014
213
Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus. ( 25246219 )
2014
214
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. ( 24311433 )
2014
215
Temper outbursts in Prader-Willi syndrome: causes, behavioural and emotional sequence and responses by carers. ( 23374136 )
2014
216
Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. ( 25355237 )
2014
217
An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome. ( 24311388 )
2014
218
Long-term outcome of epilepsy in patients with Prader-Willi syndrome. ( 25326049 )
2014
219
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. ( 24658561 )
2014
220
Patterns of habitual physical activity in youth with and without Prader-Willi Syndrome. ( 25129202 )
2014
221
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. ( 24363065 )
2014
222
Disease-specific growth charts for Korean infants with Prader-Willi syndrome. ( 25339260 )
2014
223
What is the value of growth hormone therapy in Prader Willi syndrome? ( 24162007 )
2014
224
Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome. ( 25257562 )
2014
225
Genetic Differentiation of Hypothalamus Parentally Biased Transcripts in Populations of the House Mouse Implicate the Prader-Willi Syndrome Imprinted Region as a Possible Source of Behavioral Divergence. ( 25172960 )
2014
226
Dual-energy X-ray absorptiometry is a valid method to estimate visceral adipose tissue in adult patients with Prader-Willi syndrome during treatment with growth hormone. ( 24955611 )
2014
227
Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder. ( 25388910 )
2014
228
Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults. ( 25088280 )
2014
229
Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay. ( 25226172 )
2014
230
Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment. ( 24406482 )
2014
231
Clinical and genetic features of Prader-Willi syndrome in China. ( 23933672 )
2014
232
Characterization of minipuberty in infants with prader-willi syndrome. ( 25170853 )
2014
233
Testes in Infants with Prader-Willi Syndrome: Human Chorionic Gonadotropin Treatment, Surgery and Histology. ( 25109686 )
2014
234
Assessment of Pretend Play in Prader-Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder. ( 25241008 )
2014
235
Prader-Willi syndrome: a single center's experience in Korea. ( 25114691 )
2014
236
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. ( 25287655 )
2014
237
Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13. ( 24434231 )
2014
238
Prader-Willi syndrome: a case report with atypical developmental features. ( 24859508 )
2014
239
The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences. ( 24090687 )
2013
240
Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain. ( 23390487 )
2013
241
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. ( 23225330 )
2013
242
Behavioural and cognitive profiles of mouse models for Prader-Willi syndrome. ( 21971015 )
2013
243
A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype. ( 24330817 )
2013
244
Prader-Willi syndrome - care of adults in general practice. ( 23529462 )
2013
245
Long-term effects of recombinant human growth hormone therapy in children with Prader-Willi syndrome. ( 23782572 )
2013
246
Endocrine manifestations and management of Prader-Willi syndrome. ( 23962041 )
2013
247
The Mini-Gastric Bypass in the Management of Morbid Obesity in Prader-Willi Syndrome: A Viable Option? ( 24063639 )
2013
248
The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment. ( 23057501 )
2013
249
Expressive and receptive language in Prader-Willi syndrome: report on genetic subtype differences. ( 23295077 )
2013
250
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. ( 23792373 )
2013
251
A Xq21.31 duplication without features of Prader-Willi syndrome. ( 22763470 )
2013
252
Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome? ( 21874608 )
2013
253
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. ( 23303386 )
2013
254
Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study. ( 23897656 )
2013
255
Medical management for adults with Prader-Willi syndrome. ( 23869419 )
2013
256
Glucose homeostasis in adults with Prader-Willi syndrome during treatment with growth hormone: Results from a 12-month prospective study. ( 24360789 )
2013
257
Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. ( 23364392 )
2013
258
Thyroid function from birth to adolescence in Prader-Willi syndrome. ( 23623517 )
2013
259
Prader-willi syndrome: A case report and a Chinese literature review. ( 25343115 )
2013
260
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. ( 23928912 )
2013
261
Successful treatment of heart failure in an adult patient with Prader-Willi syndrome. ( 23545673 )
2013
262
Growth hormone in health and disease: Consensus guidelines for GH therapy in Prader-Willi syndrome--this way forward? ( 23609333 )
2013
263
Prader-Willi syndrome and growth hormone therapy: take a deep breath and weigh the data. ( 23102794 )
2013
264
Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome. ( 23761691 )
2013
265
An analysis of the topography, severity, potential sources of reinforcement, and treatments utilized for skin picking in Prader-Willi syndrome. ( 23810929 )
2013
266
Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome. ( 24139709 )
2013
267
Growth hormone combined with child-specific motor training improves motor development in infants with Prader-Willi syndrome: a randomized controlled trial. ( 23886754 )
2013
268
Normal insulin-like peptide-3 levels despite low testosterone in adult males with Prader-Willi syndrome: variations in Leydig cell function from infancy through adulthood. ( 23150680 )
2013
269
Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study. ( 23893676 )
2013
270
Effects of growth hormone treatment in adults with Prader-Willi syndrome. ( 23433655 )
2013
271
Are sleep studies helpful in children with Prader-Willi syndrome prior to commencement of growth hormone therapy? ( 23438058 )
2013
272
Regional cerebral blood flow and abnormal eating behavior in Prader-Willi syndrome. ( 22921862 )
2013
273
Growth hormone, gender and face shape in Prader-Willi syndrome. ( 23918156 )
2013
274
Unexpectedly increased anorexigenic postprandial responses of PYY and GLP-1 to fast ice-cream consumption in adult patients with Prader-Willi syndrome. ( 24372155 )
2013
275
Good cognitive performances in a child with Prader-Willi syndrome. ( 24238393 )
2013
276
Prader-Willi syndrome and sleep-disordered breathing. ( 24126982 )
2013
277
Laparoscopic sleeve gastrectomy in Chinese female patient with Prader-Willi syndrome and diabetes. ( 22951076 )
2013
278
Growth hormone in health and disease: Prader-Willi syndrome--GH therapy and bone. ( 23568440 )
2013
279
Central adrenal insufficiency in young adults with Prader-Willi syndrome. ( 23311724 )
2013
280
Molecular characterization of a patient presumed to have prader-willi syndrome. ( 23700380 )
2013
281
Social responsiveness and competence in Prader-Willi syndrome: direct comparison to autism spectrum disorder. ( 22576167 )
2013
282
Growth hormone receptor (GHR) gene polymorphism and Prader-Willi syndrome. ( 23696513 )
2013
283
Nocturnal sleep measured by actigraphy in children with Prader-Willi syndrome. ( 23102789 )
2013
284
Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects. ( 24001750 )
2013
285
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation. ( 23856564 )
2013
286
Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more? ( 25002992 )
2013
287
Effects of adiposity and Prader-Willi Syndrome on postexercise heart rate recovery. ( 23762535 )
2013
288
Central precocious puberty in a girl with Prader-Willi syndrome. ( 23740678 )
2013
289
Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. ( 23318724 )
2013
290
Change in prevalence of congenital defects in children with Prader-Willi syndrome. ( 23296430 )
2013
291
The fractal dimension approach in posture: a comparison between Down and Prader-Willi syndrome patients. ( 23360287 )
2013
292
Two years of growth hormone treatment in adults with Prader-Willi syndrome do not improve the low BMD. ( 23436915 )
2013
293
Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. ( 23284006 )
2013
294
Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature. ( 23633107 )
2013
295
Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome. ( 24144356 )
2013
296
Social and emotional processing in Prader-Willi syndrome: genetic subtype differences. ( 23536992 )
2013
297
Metabolic syndrome in adult patients with Prader-Willi syndrome. ( 23220075 )
2013
298
Sleep evaluation by actigraphy for children with Prader-Willi syndrome. ( 23623528 )
2013
299
Update on body composition and bone density in children with Prader-Willi syndrome. ( 23615452 )
2013
300
Evaluating the frequency and characteristics of seizures in 142 Japanese patients with Prader-Willi syndrome. ( 23824702 )
2013
301
Recommendations for the investigation of animal models of Prader-Willi syndrome. ( 23609791 )
2013
302
Longitudinal evaluation of sleep-disordered breathing in children with Prader-Willi Syndrome during 2 years of growth hormone therapy. ( 22947651 )
2013
303
Examining the relationship between heart rate and problem behavior: a case study of severe skin picking in prader-willi syndrome. ( 24432859 )
2013
304
Altered functional brain networks in Prader-Willi syndrome. ( 23335390 )
2013
305
Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome. ( 24127921 )
2013
306
Exploring patterns of unwanted behaviours in adults with Prader-Willi syndrome. ( 23613474 )
2013
307
Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis. ( 23967326 )
2013
308
Mouse models of Prader-Willi Syndrome: a systematic review. ( 23391702 )
2013
309
Response to growth hormone treatment in Prader-Willi syndrome: auxological criteria versus genetic diagnosis. ( 23781979 )
2013
310
Behavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables. ( 23919902 )
2013
311
GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. ( 23543664 )
2013
312
Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome. ( 24038925 )
2013
313
The efficacy and safety of long-term NorditropinAr treatment in children with Prader-Willi syndrome. ( 23632904 )
2013
314
The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort. ( 23792791 )
2013
315
Epilepsy in Prader-Willi syndrome: experience of a national referral centre. ( 23750756 )
2013
316
A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome. ( 23078343 )
2013
317
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. ( 24038875 )
2013
318
Characterization of fat distribution in Prader-Willi syndrome: relationships with adipocytokines and influence of growth hormone treatment. ( 23239671 )
2013
319
[Prader-Willi syndrome]. ( 24228330 )
2013
320
'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome. ( 23704427 )
2013
321
Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences. ( 24039599 )
2013
322
Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion. ( 23650177 )
2013
323
Postprandial cardiac autonomic function in Prader-Willi syndrome. ( 23106348 )
2013
324
Assessment of executive functions in Prader-Willi syndrome and relationship with intellectual level. ( 23606605 )
2013
325
The glucagon-like peptide-1 analog liraglutide suppresses ghrelin and controls diabetes in a patient with Prader-Willi syndrome. ( 22785236 )
2012
326
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. ( 22508707 )
2012
327
Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis. ( 22117629 )
2012
328
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome. ( 22948460 )
2012
329
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. ( 21977908 )
2012
330
Ovarian function and reproductive hormone levels in girls with Prader-Willi syndrome: a longitudinal study. ( 22723315 )
2012
331
Severe tooth wear in Prader-Willi syndrome. A case-control study. ( 22639910 )
2012
332
Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy. ( 23329756 )
2012
333
Energy homeostasis in Prader-Willi syndrome: how clinical research informs studies of animal models of genetic obesity: comment on &amp;quot;Nutritional phases in Prader-Willi syndrome,&amp;quot; Miller et al., 2011. Am J Med Genet Part A, 155:1040-1049. ( 22419655 )
2012
334
Anesthetic management of Prader-Willi syndrome: what if neuromuscular relaxants could not be avoided? ( 22198218 )
2012
335
Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-. ( 22379576 )
2012
336
Coronary artery dissection in Prader-Willi syndrome: case report and literature review. ( 22857901 )
2012
337
The effect of growth hormone on sleep-related cardio-respiratory control in Prader-Willi syndrome. ( 22385467 )
2012
338
Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome. ( 22585665 )
2012
339
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome. ( 22150958 )
2012
340
Multidisciplinary care in the intensive care unit for a patient with Prader-Willi syndrome: a dental approach. ( 23917721 )
2012
341
General anesthetic management of Prader-Willi syndrome patient undergoing middle cerebral artery-superficial temporal artery anastomosis. ( 22870373 )
2012
342
Muscle-bone characteristics in children with Prader-Willi syndrome. ( 22162467 )
2012
343
Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones. ( 22188746 )
2012
344
An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice. ( 22496793 )
2012
345
Cardiac evaluation in children with Prader-Willi syndrome. ( 22181352 )
2012
346
An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome. ( 22289342 )
2012
347
Analysis of endothelial protein C receptor gene and metabolic profile in Prader-Willi syndrome and obese subjects. ( 22193922 )
2012
348
Importance of reward and prefrontal circuitry in hunger and satiety: Prader-Willi syndrome vs simple obesity. ( 22024642 )
2012
349
Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome. ( 22664655 )
2012
350
Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome. ( 21718342 )
2012
351
Outcomes of adenotonsillectomy in patients with prader-willi syndrome. ( 23165379 )
2012
352
Prader-Willi syndrome in Victoria: mortality and causes of death. ( 22697408 )
2012
353
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. ( 22903639 )
2012
354
Risk for ingestion of toxic substances in children with Prader-Willi syndrome. ( 22987600 )
2012
355
Development and implementation of electronic growth charts for infants with Prader-Willi syndrome. ( 22903930 )
2012
356
Growth and development: growth hormone therapy improves cognition in children with Prader-Willi syndrome. ( 22565027 )
2012
357
Saliva in Prader-Willi syndrome: quantitative and qualitative characteristics. ( 22673752 )
2012
358
The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction. ( 22559970 )
2012
359
Antioxidant effects of potassium ascorbate with ribose therapy in a case with Prader Willi Syndrome. ( 22960339 )
2012
360
The neuroanatomy of genetic subtype differences in Prader-Willi syndrome. ( 22241551 )
2012
361
Intraoperative adrenal insufficiency in a patient with prader-willi syndrome. ( 23024738 )
2012
362
Long noncoding RNAs as sinks in Prader-Willi syndrome. ( 23102265 )
2012
363
Mental health problems in children with prader-willi syndrome. ( 22876265 )
2012
364
Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study. ( 22081257 )
2012
365
Prader--Willi syndrome: 16-year experience in Hong Kong. ( 22685788 )
2012
366
Altered inflammation, paraoxonase-1 activity and HDL physicochemical properties in obese humans with and without Prader-Willi syndrome. ( 22822045 )
2012
367
Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study. ( 21702855 )
2012
368
Ghrelin level and weight loss after laparoscopic sleeve gastrectomy and gastric mini-bypass for Prader-Willi syndrome in Chinese. ( 22923339 )
2012
369
Prader-willi syndrome: clinical aspects. ( 23133744 )
2012
370
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. ( 22585395 )
2012
371
Effectiveness of naltrexone for treating pathologic skin picking behavior in an adolescent with Prader-Willi syndrome. ( 23083028 )
2012
372
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. ( 22045295 )
2012
373
Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment. ( 22844316 )
2012
374
Cutaneous manifestations of Prader-Willi syndrome. ( 23094311 )
2012
375
Prader-Willi syndrome. ( 22237428 )
2012
376
Scoliosis in Prader-Willi syndrome: effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression. ( 22678776 )
2012
377
Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature. ( 22704020 )
2012
378
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. ( 22694955 )
2012
379
The effect of growth hormone treatment or physical training on motor performance in Prader-Willi syndrome: a systematic review. ( 22652271 )
2012
380
Enhanced appetitive learning and reversal learning in a mouse model for Prader-Willi syndrome. ( 22642890 )
2012
381
POI: a score to modulate GH treatment in children with Prader-Willi syndrome. ( 22986481 )
2012
382
Pneumatosis intestinalis due to rotavirus infection in a child with Prader-Willi syndrome. ( 23692801 )
2012
383
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation. ( 21735174 )
2012
384
Approach to the child with prader-willi syndrome. ( 23129592 )
2012
385
Treating diabetes mellitus in Prader-Willi syndrome with Exenatide. ( 21227526 )
2011
386
Atypical pulmonary carcinoid tumour in a 28-year-old nonsmoker with Prader-Willi syndrome. ( 22045793 )
2011
387
Effects of a single dose of exenatide on appetite, gut hormones, and glucose homeostasis in adults with Prader-Willi syndrome. ( 21632815 )
2011
388
Care of the patient with Prader-Willi syndrome. ( 21786486 )
2011
389
Psychiatric illness in a cohort of adults with Prader-Willi syndrome. ( 21454045 )
2011
390
PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances. ( 20588317 )
2011
391
Can fetal ultrasound result in prenatal diagnosis of Prader-Willi syndrome? ( 21848014 )
2011
392
Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes. ( 21269146 )
2011
393
Effects of growth hormone therapy on cardiac dimensions in children and adolescents with Prader-Willi syndrome. ( 20924154 )
2011
394
Magel2, a Prader-Willi syndrome candidate gene, modulates the activities of circadian rhythm proteins in cultured cells. ( 22208286 )
2011
395
Physical health problems in adults with Prader-Willi syndrome. ( 21834028 )
2011
396
Nutritional phases in Prader-Willi syndrome. ( 21465655 )
2011
397
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. ( 21633360 )
2011
398
Prader-Willi syndrome. ( 21952424 )
2011
399
A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center. ( 21659337 )
2011
400
Periodontal disease in a patient with Prader-Willi syndrome: a case report. ( 21798057 )
2011
401
In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels. ( 21722955 )
2011
402
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. ( 22242001 )
2011
403
Fractal dimension approach in postural control of subjects with Prader-Willi Syndrome. ( 21854639 )
2011
404
Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader-Willi syndrome. ( 20847547 )
2011
405
Growth standards of infants with Prader-Willi syndrome. ( 21402637 )
2011
406
Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome. ( 21932585 )
2011
407
Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader-Willi syndrome. ( 20880323 )
2011
408
Body image and sexual interests in adolescents and young adults with Prader-Willi syndrome. ( 21932584 )
2011
409
The relationship between IGF-I concentration, cognitive function and quality of life in adults with Prader-Willi syndrome. ( 21223969 )
2011
410
Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome. ( 22052851 )
2011
411
Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning. ( 21056055 )
2011
412
Orofacial dysfunction in individuals with Prader-Willi syndrome assessed with NOT-S. ( 21426270 )
2011
413
Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome. ( 20965292 )
2011
414
Prader-Willi Syndrome: Obesity due to Genomic Imprinting. ( 22043168 )
2011
415
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. ( 21337696 )
2011
416
Liraglutide therapy in Prader-Willi syndrome. ( 21388446 )
2011
417
Characterization of diabetes mellitus in Japanese prader-willi syndrome. ( 23926392 )
2011
418
Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome. ( 21671379 )
2011
419
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients. ( 21702900 )
2011
420
Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome. ( 22606524 )
2011
421
TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome. ( 21418060 )
2011
422
Tryptophan for the treatment of excessive daytime sleepiness in Prader-Willi syndrome. ( 21532101 )
2011
423
The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index. ( 20962018 )
2011
424
The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome. ( 21273761 )
2011
425
Spatial competences in Prader-Willi syndrome: a radial arm maze study. ( 21541643 )
2011
426
Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome. ( 21343540 )
2011
427
Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report. ( 21552737 )
2011
428
Longitudinal association between growth hormone therapy and obstructive sleep apnea in a child with Prader-Willi syndrome. ( 20943780 )
2011
429
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome. ( 22052808 )
2011
430
Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome. ( 22118318 )
2011
431
Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding. ( 20680019 )
2011
432
Prader-Willi syndrome and autism spectrum disorders: an evolving story. ( 21858456 )
2011
433
Delayed response of amylin levels after an oral glucose challenge in children with Prader-Willi syndrome. ( 21319343 )
2011
434
Behavioral phenotype in adults with Prader-Willi syndrome. ( 21227640 )
2011
435
Clinical reporta89health supervision for children with Prader-Willi syndrome. ( 21187304 )
2011
436
Managing Prader-Willi syndrome in families: an embodied exploration. ( 21216515 )
2011
437
Metabolic syndrome in children with Prader-Willi syndrome: the effect of obesity. ( 20089384 )
2011
438
Prader-Willi syndrome: A primer for clinicians. ( 22008714 )
2011
439
Oral mucosa in children with Prader-Willi syndrome. ( 21457346 )
2011
440
Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers-Danlos and Prader-Willi syndrome. ( 21454046 )
2011
441
Growth hormone treatment for two years is safe and effective in adults with Prader-Willi syndrome. ( 21664161 )
2011
442
Small gray matter volume in orbitofrontal cortex in Prader-Willi syndrome: a voxel-based MRI study. ( 20669168 )
2011
443
Sudden proximal spinal dislocation with complete spinal cord injury 1 week after spinal fusion in a child with Prader-Willi syndrome: a case report. ( 21394070 )
2011
444
Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites. ( 21233802 )
2011
445
Systematic review of the clinical and genetic aspects of Prader-Willi syndrome. ( 21503198 )
2011
446
Pubarche and Serum Dehydroepiandrosterone Sulfate Levels in Children with Prader-Willi Syndrome. ( 21521261 )
2011
447
The relationship between specific cognitive impairment and behaviour in Prader-Willi syndrome. ( 21199046 )
2011
448
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins. ( 21964995 )
2011
449
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome. ( 21881965 )
2011
450
Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. ( 20980432 )
2011
451
Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. ( 20651469 )
2011
452
Recognition of emotion in facial expression by people with Prader-Willi syndrome. ( 21121995 )
2011
453
Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization. ( 20708498 )
2010
454
Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment. ( 20926543 )
2010
455
Prader-Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea. ( 20814307 )
2010
456
Plasma adiponectin level and sleep structures in children with Prader-Willi syndrome. ( 19912511 )
2010
457
Prader-Willi syndrome associated with dilated cardiomyopathy. ( 20723130 )
2010
458
Anesthesia for a 16-month-old patient with Prader-Willi syndrome. ( 20711615 )
2010
459
Successful risperidone treatment for behavioral disturbances in Prader-Willi syndrome. ( 20158635 )
2010
460
Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes. ( 20136683 )
2010
461
Prader-Willi syndrome and Angelman syndrome. ( 20803659 )
2010
462
A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. ( 20960156 )
2010
463
Treatment of scoliosis in patients affected with Prader-Willi syndrome using various techniques. ( 20550681 )
2010
464
Obstructive sleep disorders in Prader-Willi syndrome: The role of surgery and growth hormone. ( 20880597 )
2010
465
Respiratory Depression in Young Prader Willi Syndrome Patients following Clonidine Provocation for Growth Hormone Secretion Testing. ( 20368793 )
2010
466
Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. ( 20727826 )
2010
467
TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes. ( 22127900 )
2010
468
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. ( 20020165 )
2010
469
Long-term effects of growth hormone therapy on patients with Prader-Willi syndrome. ( 20545932 )
2010
470
Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. ( 19946044 )
2010
471
Clinical management of behavioral characteristics of Prader-Willi syndrome. ( 20505842 )
2010
472
Perceptions of body image by persons with Prader-Willi syndrome and their parents. ( 20025358 )
2010
473
Children with Prader-Willi syndrome exhibit more evident meal-induced responses in plasma ghrelin and peptide YY levels than obese and lean children. ( 20019130 )
2010
474
A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome. ( 20405203 )
2010
475
Delayed gastric emptying in patients with Prader Willi Syndrome. ( 21175084 )
2010
476
Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome. ( 20825553 )
2010
477
The musculoskeletal manifestations of Prader-Willi syndrome. ( 20502241 )
2010
478
Correlation between hyperghrelinemia and carotid artery intima-media thickness in children with Prader-Willi syndrome. ( 20376885 )
2010
479
The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood. ( 20041936 )
2010
480
Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome. ( 20394819 )
2010
481
Prader-Willi syndrome, Snord115, and Htr2c editing. ( 19653017 )
2010
482
Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. ( 20560980 )
2010
483
Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. ( 20636465 )
2010
484
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. ( 20588305 )
2010
485
Nutritient intake of young children with Prader-Willi syndrome. ( 20305754 )
2010
486
Lower brain-derived neurotrophic factor in patients with prader-willi syndrome compared to obese and lean control subjects. ( 20427492 )
2010
487
Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome. ( 20199883 )
2010
488
Neural correlates of task switching in paternal 15q11-q13 deletion Prader-Willi syndrome. ( 20920489 )
2010
489
Urinary incontinence in persons with Prader-Willi Syndrome. ( 20575983 )
2010
490
Rehabilitation issues for children with Prader-Willi syndrome. ( 20067339 )
2010
491
Improvement in quality of life after adenotonsillectomy in a child with Prader Willi syndrome. ( 19763652 )
2010
492
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. ( 20082457 )
2010
493
Long-term growth hormone therapy changes the natural history of body composition and motor function in children with prader-willi syndrome. ( 20061431 )
2010
494
Neurobehavioral phenotype in Prader-Willi syndrome. ( 20981773 )
2010
495
Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database. ( 20395666 )
2010
496
Correlation of adiponectin receptor expression with cytokines and insulin sensitivity in growth hormone (GH)-treated children with Prader-Willi syndrome and in non-GH-treated obese children. ( 20061428 )
2010
497
Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers. ( 20083560 )
2010
498
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly. ( 20461108 )
2010
499
Developmental profiles and mentality in preschool children with Prader-Willi syndrome: a preliminary study. ( 20804673 )
2010
500
Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. ( 20718763 )
2010
501
Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. ( 20810574 )
2010
502
New onset epilepsy in Prader-Willi syndrome: semiology and literature review. ( 20837313 )
2010
503
Maternal parenting stress in families with a child with Angelman syndrome or Prader-Willi syndrome. ( 20809878 )
2010
504
One year of growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo-controlled study. ( 20702523 )
2010
505
Dementia in a woman with Prader-Willi syndrome. ( 20219703 )
2010
506
Prader-Willi syndrome is associated with activation of the innate immune system independently of central adiposity and insulin resistance. ( 20444923 )
2010
507
Prader-Willi syndrome: Methylation study or fluorescence in situ hybridization first? ( 21206709 )
2010
508
Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. ( 20956530 )
2010
509
The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood. ( 19863636 )
2010
510
Excessive appetitive arousal in Prader-Willi syndrome. ( 20005277 )
2010
511
Cardiovascular and metabolic risk profile and acylation-stimulating protein levels in children with Prader-Willi syndrome and effects of growth hormone treatment. ( 20173020 )
2010
512
Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome. ( 20092561 )
2010
513
Rehabilitation priorities for individuals with Prader-Willi Syndrome. ( 20441438 )
2010
514
[Early education for children with Prader-Willi syndrome]. ( 19530522 )
2009
515
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. ( 19048015 )
2009
516
Influence of age, gender, and glucose tolerance on fasting and fed acylated ghrelin in Prader Willi syndrome. ( 19150743 )
2009
517
Variations in fetal phenotype in Prader-Willi syndrome. ( 19248040 )
2009
518
The foot in Prader-Willi syndrome: a case report. ( 19426385 )
2009
519
Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study. ( 19961030 )
2009
520
Morning melatonin levels in Prader-Willi syndrome. ( 19606476 )
2009
521
Is gestation in Prader-Willi syndrome affected by the genetic subtype? ( 19760168 )
2009
522
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. ( 19533781 )
2009
523
&amp;quot;Efficacy of laparoscopic sleeve gastrectomy as a stand-alone technique for children with morbid obesity&amp;quot; and &amp;quot;BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits&amp;quot;. ( 18982398 )
2009
524
Food addiction and cues in prader-willi syndrome. ( 21768997 )
2009
525
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs. ( 20020576 )
2009
526
Bioenterics intragastric balloon may represent an alternative and effective treatment for body weight control in Prader-Willi syndrome. ( 19277798 )
2009
527
A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms. ( 19504726 )
2009
528
Clinical and genetic analysis for four Chinese families with Prader-Willi syndrome. ( 19421899 )
2009
529
The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder. ( 19457156 )
2009
530
Inclusion of chiropractic care in multidisciplinary management of a child with Prader-Willi syndrome: a case report. ( 19948310 )
2009
531
Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome. ( 19221920 )
2009
532
Water intake and risk of hyponatraemia in Prader-Willi syndrome. ( 19302470 )
2009
533
Cortisol levels in Prader-Willi syndrome support changes in routine care. ( 19133690 )
2009
534
Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation. ( 19282755 )
2009
535
Body mass index in children with Prader-Willi Syndrome during human growth hormone therapy: a real world situation. ( 19364570 )
2009
536
Respiratory changes in Prader-Willi syndrome. ( 19224093 )
2009
537
Prader-Willi syndrome. ( 18781185 )
2009
538
A special, strict, fat-reduced, and carbohydrate-modified diet leads to marked weight reduction even in overweight adolescents with Prader-Willi syndrome (PWS). ( 19768349 )
2009
539
The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome. ( 19383777 )
2009
540
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. ( 19066619 )
2009
541
Analysis of NREM sleep in children with Prader-Willi syndrome and the effect of growth hormone treatment. ( 19027358 )
2009
542
Assessment of physical function in adults with Prader-Willi syndrome. ( 19479512 )
2009
543
Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. ( 19401370 )
2009
544
GH treatment reduces total ghrelin in Prader-Willi syndrome (PWS) and may confound ghrelin studies in young PWS children. ( 19178506 )
2009
545
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. ( 19800077 )
2009
546
Dorsal and ventral stream mediated visual processing in genetic subtypes of Prader-Willi syndrome. ( 18950649 )
2009
547
Association between foot growth and musculoskeletal loading in children with Prader-Willi syndrome before and during growth hormone treatment. ( 18822426 )
2009
548
On the origin of sensory impairment and altered pain perception in Prader-Willi syndrome: a neurophysiological study. ( 18986815 )
2009
549
Body fat excess and stimulated growth hormone levels in adult patients with Prader-Willi syndrome. ( 19267411 )
2009
550
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. ( 19172181 )
2009
551
Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. ( 18814886 )
2009
552
Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome. ( 19837938 )
2009
553
Transcranial direct current stimulation: a novel approach to control hyperphagia in Prader-Willi syndrome. ( 19406762 )
2009
554
Scatter plot analysis of excessive daytime sleepiness and severe disruptive behavior in adults with Prader-Willi syndrome: a pilot study. ( 18790602 )
2009
555
Scoliosis in patients with Prader Willi Syndrome - comparisons of conservative and surgical treatment. ( 19419581 )
2009
556
About the benefits of growth hormone treatment in children with Prader-Willi syndrome. ( 19364573 )
2009
557
Efficacy and safety of adenotonsillectomy for pediatric obstructive sleep apnea in Prader-Willi syndrome. ( 19462846 )
2009
558
Breathing deficits of the Prader-Willi syndrome. ( 19712904 )
2009
559
Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. ( 18930956 )
2009
560
Mesangioproliferative glomerulonephritis in an infant with Prader-Willi syndrome. ( 19561787 )
2009
561
Perinatal dyskinesia as a presenting feature in Prader Willi syndrome. ( 18722147 )
2009
562
Relationship between the IQ of people with Prader-Willi syndrome and that of their siblings: evidence for imprinted gene effects. ( 19207281 )
2009
563
Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome. ( 19158197 )
2009
564
Morbid obesity in an adolescent with Prader-Willi syndrome. ( 19543650 )
2009
565
Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial. ( 19622627 )
2009
566
Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome. ( 19729946 )
2009
567
Short-term effects of growth hormone treatment on the upper airways of non severely obese children with Prader-Willi syndrome. ( 19498323 )
2009
568
Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: experience from KIGS (Pfizer International Growth Database). ( 18663319 )
2008
569
Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q. ( 18627056 )
2008
570
Everyday physical activity and adiposity in Prader-Willi syndrome. ( 19189698 )
2008
571
'Hungry Eyes': visual processing of food images in adults with Prader-Willi syndrome. ( 18422527 )
2008
572
Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei. ( 18039333 )
2008
573
Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. ( 18618997 )
2008
574
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. ( 17431897 )
2008
575
Interdisciplinary behavioral intervention for life-threatening obesity in an adolescent with Prader-Willi syndrome - a case report. ( 18408535 )
2008
576
BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits. ( 18449615 )
2008
577
A mindfulness-based health wellness program for an adolescent with Prader-Willi syndrome. ( 18285504 )
2008
578
Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? ( 19028967 )
2008
579
Cognition and behavior in pre-pubertal children with Prader-Willi syndrome and associations with sleep-related breathing disorders. ( 19006209 )
2008
580
Frontal behavioral syndromes in Prader-Willi syndrome. ( 18262375 )
2008
581
Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome. ( 18272695 )
2008
582
The Prader-Willi syndrome protein necdin interacts with the E1A-like inhibitor of differentiation EID-1 and promotes myoblast differentiation. ( 18557765 )
2008
583
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. ( 18665884 )
2008
584
Scoliosis in patients with Prader-Willi Syndrome. ( 18606625 )
2008
585
[Diagnosis of Prader-Willi syndrome by methylation-specific PCR]. ( 18706168 )
2008
586
Neurodevelopmental abnormalities in the brainstem of prenatal mice lacking the Prader-Willi syndrome gene Necdin. ( 18085261 )
2008
587
Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome. ( 18603572 )
2008
588
Testicular histology in boys with Prader-Willi syndrome: fertile or infertile? ( 18721940 )
2008
589
Foreign body aspiration in a boy with Prader-Willi Syndrome. ( 18204752 )
2008
590
Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. ( 18468308 )
2008
591
Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. ( 18263693 )
2008
592
Genetics and mathematics: evidence from Prader-Willi syndrome. ( 17845808 )
2008
593
Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. ( 18311513 )
2008
594
Prader-Willi syndrome: who can have growth hormone? ( 18089632 )
2008
595
Strategies and correlates of jigsaw puzzle and visuospatial performance by persons with Prader-Willi syndrome. ( 18702555 )
2008
596
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. ( 18184946 )
2008
597
Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. ( 18298478 )
2008
598
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. ( 18303077 )
2008
599
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. ( 18203198 )
2008
600
Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. ( 18698613 )
2008
601
The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome. ( 18177526 )
2008
602
Hyperghrelinemia precedes obesity in Prader-Willi syndrome. ( 18460565 )
2008
603
Molecular characterization of Prader-Willi syndrome by real-time PCR. ( 18554170 )
2008
604
Prader-Willi syndrome: is there a recognizable fetal phenotype? ( 18661490 )
2008
605
Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample. ( 17919850 )
2008
606
Loss of the Prader-Willi syndrome protein necdin causes defective migration, axonal outgrowth, and survival of embryonic sympathetic neurons. ( 18570257 )
2008
607
Lymphedema in Prader-Willi syndrome. ( 18986486 )
2008
608
French database of children and adolescents with Prader-Willi syndrome. ( 18831731 )
2008
609
Effects of growth hormone treatment on height, weight, and obesity in Taiwanese patients with Prader-Willi syndrome. ( 18567561 )
2008
610
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. ( 18266248 )
2008
611
Critical analysis of bariatric procedures in Prader-Willi syndrome. ( 18162838 )
2008
612
Ghrelin concentrations in Prader-Willi syndrome (PWS) infants and children: changes during development. ( 18710462 )
2008
613
Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. ( 18211968 )
2008
614
Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome. ( 18301920 )
2008
615
The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients. ( 18086025 )
2008
616
Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome. ( 18997487 )
2008
617
Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome. ( 18363884 )
2008
618
Complications of scoliosis surgery in Prader-Willi syndrome. ( 18277871 )
2008
619
Conservative scoliosis treatment in patients with Prader-Willi syndrome. ( 18810044 )
2008
620
Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. ( 18241068 )
2008
621
Prader Willi Syndrome and excessive daytime sleepiness. ( 18201664 )
2008
622
Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome: a ten-year follow-up. ( 18780599 )
2008
623
In search of the psychosis gene in people with Prader-Willi syndrome. ( 18324689 )
2008
624
Review of 64 cases of death in children with Prader-Willi syndrome (PWS). ( 18324685 )
2008
625
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. ( 18226259 )
2008
626
Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. ( 18031326 )
2008
627
Necdin gene, respiratory disturbances and Prader-Willi syndrome. ( 18085265 )
2008
628
Recommendations for the diagnosis and management of Prader-Willi syndrome. ( 18697869 )
2008
629
Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. ( 18279435 )
2008
630
Adult subjects with Prader-Willi syndrome show more low-grade systemic inflammation than matched obese subjects. ( 18362510 )
2008
631
Treatment of precocious puberty in a female with Prader-Willi syndrome. ( 18655533 )
2008
632
Eating behavior and gastric emptying in adults with Prader-Willi syndrome. ( 17622785 )
2007
633
Atypical presentation of Prader-Willi syndrome with cerebral venous thrombosis: association or fortuity? ( 18058630 )
2007
634
Hypothyroidism in Prader-Willi syndrome: a case report and review of the literature. ( 17993776 )
2007
635
Cardiac tamponade due to systemic lupus erythematosus in patient with Prader-Willi syndrome after growth hormone therapy. ( 17664237 )
2007
636
Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients. ( 17867985 )
2007
637
Obestatin is not elevated or correlated with insulin in children with Prader-Willi syndrome. ( 17047025 )
2007
638
Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. ( 17567883 )
2007
639
Nutrient intake and body composition variables in Prader-Willi syndrome--effect of growth hormone supplementation and genetic subtype. ( 17550213 )
2007
640
Klinefelter's syndrome and Prader-Willi syndrome: a rare combination. ( 17657135 )
2007
641
Prader-Willi syndrome in Taiwan. ( 17532839 )
2007
642
A 3 year old with obesity and hypotonia. Prader-Willi syndrome. ( 17515168 )
2007
643
The effect of growth hormone on the response of total and acylated ghrelin to a standardized oral glucose load and insulin resistance in children with Prader-Willi syndrome. ( 17192298 )
2007
644
Adiponectin levels in prepubertal children with Prader-Willi syndrome before and during growth hormone therapy. ( 17264186 )
2007
645
Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin. ( 17085944 )
2007
646
Prader-Willi syndrome: an update and review for the primary pediatrician. ( 17522286 )
2007
647
Peptide YY, cholecystokinin, insulin and ghrelin response to meal did not change, but mean serum levels of insulin is reduced in children with Prader-Willi syndrome. ( 17596650 )
2007
648
Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. ( 17163531 )
2007
649
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. ( 17728320 )
2007
650
Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome. ( 17639594 )
2007
651
Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. ( 17264185 )
2007
652
A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. ( 17391252 )
2007
653
Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. ( 17700392 )
2007
654
Introductory comments - special section: Prader-Willi syndrome. ( 17304547 )
2007
655
Quality of life assessment in a sample of patients affected by Prader-Willi syndrome. ( 17803668 )
2007
656
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings. ( 17389128 )
2007
657
Characteristics of cardiac and vascular structure and function in Prader-Willi syndrome. ( 17437511 )
2007
658
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan. ( 17537021 )
2007
659
Oral diseases in a patient affected with Prader-Willi syndrome. ( 17571934 )