|1|Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. (24138066)
Shalev S.A.... Greeley S.A.
|2|Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells. (23874697)
Li C.... Okazawa H.
|3|CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. (23918663)
Hussain M.S.... Noegel A.A.
|4|Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. (23542699)
McDonell L.M.... Boycott K.M.
|5|Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma. (23472065)
Venkatesh T.... Kumar A.
|6|WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome? (24035900)
Nguyen-Minh S.... Kaindl A.M.
|7|Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. (22284827)
Ostergaard P.... Jeffery S.
|8|Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. (22305528)
Lines M.A.... Boycott K.M.
|9|Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. (22407726)
Butler M.G.... Glover T.W.
|10|Mutations in the I^-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. (23246003)
Breuss M.... Keays D.A.
|11|High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. (21800092)
Ballif B.C.... Shaffer L.G.
|12|Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. (22508754)
Reynolds J.J.... Caldecott K.W.
|13|Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. (21294719)
van Bon B.W.... de Vries B.B.
|14|Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? (21252004)
Belligni E.F.... Hennekam R.C.
|15|Early postnatal blood concentrations of inflammation-related proteins and microcephaly two years later in infants born before the 28th post-menstrual week. (21334149)
Leviton A.... Paneth N.
|16|De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations. (21271670)
Aradhya S.... Lacassie Y.
|17|VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. (21737879)
Passemard S.... LeliA"vre V.
|18|Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. (21567906)
Zhang H.... Lee J.Y.
|19|Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3a89pter) and partial monosomy 13q (13q33.3a89qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. (21056318)
Chen C.P.... Wang W.
|20|Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the quality standards subcommittee of the American Academy Of Neurology and the Practice Committee Of The Child Neurology Society. (20350982)
|21|Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. (20450312)
Lee B.J.... Yu Y.S.
|22|Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. (20598275)
Guernsey D.L.... Samuels M.E.
|23|Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes. (19530192)
Abdel-Salam G.M.... Zaki M.S.
|24|Primary microcephaly in two children born to mothers with complicated appendicitis or late appendectomy during pregnancy. (19235832)
Acs N.... Czeizel A.E.
|25|The molecular landscape of ASPM mutations in primary microcephaly. (19028728)
Nicholas A.K.... Woods C.G.
|26|Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. (19752457)
Ashwal S.... Dobyns W.B.
|27|A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. (18564499)
Nucaro A.... Cianchetti C.
|28|A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. (18071751)
Hassan M.J.... Ahmad W.
|29|An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome. (17515167)
|30|Pronounced microcephaly in a patient with malignant migrating partial seizures in infancy. (17307719)
Hahn A.... Neubauer B.A.
|31|Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (17764569)
Hassan M.J.... Ahmad W.
|32|Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. (16972080)
de Wit M.C.... Mancini G.M.
|33|Nonsyndromic microcephaly: an overview. (16124344)
Leroy J.G.... FrA-as J.L.
|34|Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. (16133170)
Shoichet S.A.... Kalscheuer V.M.
|35|Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. (14691719)
Teebi A.S.... Zucker K.J.
|36|Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. (15355437)
Kumar A.... Girimaji S.C.
|37|Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. (14641475)
Wallerman O.... Wadelius C.
|38|Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. (12494436)
Shotelersuk V.... Suwanwela N.
|39|What's new in neurogenetics? Amish microcephaly. (14623217)
|40|Riga-Fede disease: association with microcephaly. (12452988)
|41|A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. (10677332)
Moynihan L.... Woods C.G.
|42|Microcephaly with normal intelligence, and chorioretinopathy. (10617924)
Abdel-Salam G.M.... Czeizel A.
|43|Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (10521316)
Jamieson C.R.... Abramowicz M.J.
|44|MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
SteinmA1ller R.... MA1ller U.
|45|Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome? (9096751)
Kawame H.... Hudgins L.
|46|Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. (7545870)
Chrzanowska K.H.... LysA^n-Wojciechowska G.
|47|Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. (8249951)
Warburg M.... Pedersen S.A.
|48|Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? (1956062)
Winship I.M.... De Moor M.M.
|49|Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. (3172144)
Hurst J.A.... Brett E.M.
|50|Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) (3177467)
Sutherland G.R.... Mulley J.C.