|1|Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
Hangge P.T.... Hinton R.B.
|2|Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. (23418308)
Awad S.... Poizat C.
|3|DNA damage response in microcephaly development of MCPH1 mouse model. (23683352)
Zhou Z.W.... Wang Z.Q.
|4|A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene. (24032297)
Chen C.P.... Wang W.
|5|Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients. (24234199)
Adachi Y.... Barkovich J.
|6|Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. (24228726)
Farag H.G.... Kaindl A.M.
|7|West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. (23812912)
Banne E.... Edvardson S.
|8|Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. (23072189)
Mahjoubi F.... Razazian F.
|9|Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly. (23040944)
Chen C.P.... Wang W.
|10|Postnatal-onset microcephaly: pathogenesis, patterns of growth, and prediction of outcome. (21422087)
Rosman N.P.... Rivkin M.J.
|11|Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation. (21567918)
Manolakos E.... Petersen M.B.
|12|Primary microcephaly 3 (MCPH3): revisiting two critical mutations. (21512315)
Park J.S.... Lee K.Y.
|13|New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. (22002884)
Zaki M.S.... Gleeson J.G.
|14|Brain evolution: microcephaly genes weigh in. (20219177)
Montgomery S.H.... Mundy N.I.
|15|Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline. (20823249)
Pulvers J.N.... Huttner W.B.
|16|Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. (20949544)
Scala I.... Andria G.
|17|Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. (19838731)
Pavone P.... Dobyns W.B.
|18|Developmental outcome of isolated fetal microcephaly. (20069548)
Stoler-Poria S.... Malinger G.
|19|A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report. (19239688)
Ogilvie C.M.... Flinter F.
|20|Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. (19165920)
Najm J.... Kutsche K.
|21|A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. (17369115)
Cilliers D.D.... Clayton-Smith J.
|22|SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. (16311745)
Garshasbi M.... Najmabadi H.
|23|Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data. (16532515)
Tunca Y.... Abramowicz M.
|24|24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism. (16769261)
Chen C.P.... Wang W.
|25|What primary microcephaly can tell us about brain growth. (16829198)
Cox J.... Woods C.G.
|26|Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. (16358361)
Buck D.... de Villartay J.P.
|27|ASPM mutations identified in patients with primary microcephaly and seizures. (16141009)
Shen J.... Walsh C.A.
|28|Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. (16015581)
de Ru M.H.... Van Hagen J.M.
|29|Evolution of primary microcephaly genes and the enlargement of primate brains. (15917198)
Ponting C.... Jackson A.P.
|30|Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly. (15216407)
Su P.H.... Lee C.F.
|31|Giant occipital encephalocele with microcephaly and micrognathia. (15608496)
Agrawal D.... Mahapatra A.K.
|32|Factors associated with microcephaly at school age in a very-low-birthweight population. (14667070)
Chiriboga C.A.... Bellinger D.
|33|Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. (12362027)
Roberts E.... Woods C.G.
|34|Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin. (12124705)
Chen C.P.... Chiu N.C.
|35|Significance of microcephaly among children with developmental disabilities. (11952071)
Watemberg N.... Lerman-Sagie T.
|36|Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? (12150211)
MAcgarbanAc A.... Caillaud C.
|37|An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. (12353901)
Simonell F.... Rinaldi M.M.
|38|Pyridostigmine-induced microcephaly. (11402134)
Al-Shekhlee A.... Kaminski H.J.
|39|Prenatal hypoxic ischaemic-encephalopathy leading to microcephaly in a sickle cell pregnancy with recovery from a 'terminal CTG'. (11236124)
Pakarian F.... Pearson T.C.
|40|Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. (11053679)
Villanova M.... Muntoni F.
|41|Pyridostigmine-induced microcephaly. (10802806)
Niesen C.E.... Shah N.S.
|42|Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. (10521829)
Chen C.P.... Wang T.Y.
|43|The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. (9571284)
l-Dabbous R.... Farag T.I.
|44|Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings. (9805130)
Straussberg R.... Varsano I.
|45|Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. (9409875)
Doerfler W.... Passarge E.
|46|Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? (8256811)
Ishikiriyama S.... Goto M.
|47|Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
Collignon P.... Giraud F.
|48|Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? (2801767)
Hankenson L.G.... Cassidy S.B.
|49|In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. (6702901)
Russell L.J.... Weinbaum M.
|50|Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
Jorgenson R.J.... Giovannucci Uzielli M.L.