|1|First clinical report of an infant with microcephaly and CASC5 mutations. (27149178)
Zarate Y.A.... Gao H.
|2|Microcephaly associated with maternal Zika virus infection. (27150580)
Moron A.F.... Witkin S.S.
|3|Microcephaly in Pernambuco State, Brazil: epidemiological characteristics and evaluation of the diagnostic accuracy of cutoff points for reporting suspected cases. (27143306)
Souza W.V.... Martelli C.M.
|4|Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination. (25697102)
Isakov O.... Shomron N.
|5|Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. (26535115)
Narayanan M.... Narayanan V.
|6|RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family. (25525169)
Chograni M.... Chaabouni-Bouhamed H.
|7|Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
Dean S.J.... Lyons M.J.
|8|Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis. (25304118)
Ozsurekci Y.... Ceyhan M.
|9|A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. (24951542)
Khan M.A.... Windpassinger C.
|10|A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans. (25316788)
Brooks S.S.... Davis E.E.
|11|Is microcephaly a so-far unrecognized feature of XYY syndrome? (25606399)
Nguyen-Minh S.... Kaindl A.M.
|12|Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. (24530477)
Ismail S.... Zaki M.S.
|13|Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. (25227173)
Ben-Salem S.... Al-Gazali L.
|14|Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis. (23637172)
CloAtta D.... RA1egg M.A.
|15|Microcephaly genes and the evolution of sexual dimorphism in primate brain size. (23305468)
Montgomery S.H.... Mundy N.I.
|16|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.
|17|Severe microcephaly with polynodular heterotopia: a high-field MRI and neuropathological case study. (23663540)
Minati L.... Pilleri G.
|18|Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
Hangge P.T.... Hinton R.B.
|19|Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. (21834052)
Carter M.T.... Boycott K.M.
|20|Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (20890278)
Yu T.W.... Walsh C.A.
|21|Brain evolution: microcephaly genes weigh in. (20219177)
Montgomery S.H.... Mundy N.I.
|22|Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. (19161147)
Rajab A.... Ross M.E.
|23|Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
Salpietro C.D.... Dallapiccola B.
|24|PTCH1 duplication in a family with microcephaly and mild developmental delay. (18830227)
DerwiA8ska K.... Stankiewicz P.
|25|A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. (18053786)
Andrieux J.... Vallee L.
|26|Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. (17506097)
Svensson A.M.... Brothman A.R.
|27|Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. (18000902)
Erickson R.P.... Bodensteiner J.B.
|28|Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. (17849285)
Gul A.... Ahmad W.
|29|A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma. (16434324)
Bakhshi S.... Abella E.
|30|Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance? (14994248)
|31|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.
|32|A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. (14997185)
Pichon B.... Abramowicz M.J.
|33|Pyridoxine-dependent seizures and microcephaly. (15351022)
Tan H.... KarakelleoA9lu C.
|34|Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. (14641475)
Wallerman O.... Wadelius C.
|35|Value of electrodiagnostic assessment in nonsyndromic microcephaly. (14620175)
Atchaneeyasakul L.O.... Thanasombatsakul N.
|36|Congenital microcephaly in two infants with the factor V Leiden mutation. (12593464)
Voudris K.A.... Vagiakou E.A.
|37|Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. (12362027)
Roberts E.... Woods C.G.
|38|Pyridostigmine-induced microcephaly. (11402134)
Al-Shekhlee A.... Kaminski H.J.
|39|Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. (11525887)
Ruggieri V.... Taratuto A.L.
|40|The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera) (10826634)
Abdel-Salam G.... Czeizel A.E.
|41|Microcephaly and macrocephaly in autism. (10382131)
Fombonne E.... FrAcmolle J.
|42|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.
|43|Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. (9602489)
Chen C.P.... Chen M.H.
|44|Atelencephalic microcephaly: a case report and review of the literature. (9667407)
Ippel P.F.... Bijlsma J.B.
|45|Abnormal development of serotonin nerve fibers in the visual cortex in rats with methylazoxymethanol-induced microcephaly. (9452817)
Funahashi A.... Maeda T.
|46|Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. (7717420)
MartA-nez-FrA-as M.L.... FrA-as J.L.
|47|Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? (1536185)
Halal F.... Silver K.
|48|Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
Collignon P.... Giraud F.
|49|Microcephaly with peculiar demyelination mimicking Pelizaeus-Merzbacher disease. (562057)
Kamoshita S.... Kono R.