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Molecular genetics of human primary microcephaly: an overview.
Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H. Faheem M, et al. BMC Med Genomics. 2015;8 Suppl 1(Suppl 1):S4. doi: 10.1186/1755-8794-8-S1-S4. Epub 2015 Jan 15. BMC Med Genomics. 2015. PMID: 25951892 Free PMC article. Review.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally n …
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by mic …
What primary microcephaly can tell us about brain growth.
Cox J, Jackson AP, Bond J, Woods CG. Cox J, et al. Trends Mol Med. 2006 Aug;12(8):358-66. doi: 10.1016/j.molmed.2006.06.006. Epub 2006 Jul 10. Trends Mol Med. 2006. PMID: 16829198 Review.
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that causes a great reduction in brain growth in utero. ...At least six genes can cause this disorder and four of these have recently been identified: autosomal …
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that causes a great reduction …
Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.
Megraw TL, Sharkey JT, Nowakowski RS. Megraw TL, et al. Trends Cell Biol. 2011 Aug;21(8):470-80. doi: 10.1016/j.tcb.2011.04.007. Epub 2011 May 31. Trends Cell Biol. 2011. PMID: 21632253 Free PMC article. Review.
Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient neuron production in the developing cerebral cortex. ...We integrate the impact of centriole replication defects with the functions of Cdk5rap …
Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient ne …
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG, Pollazzon M, Farooq M, Fatima A, Larsen LA, Zuntini R, Napoli M, Garavelli L. Caraffi SG, et al. Genes (Basel). 2022 Apr 2;13(4):634. doi: 10.3390/genes13040634. Genes (Basel). 2022. PMID: 35456440 Free PMC article. Review.
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous …
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to im …
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Arenas-Sordo Mde L, et al. Med Oral Patol Oral Cir Bucal. 2006 May 1;11(3):E236-8. Med Oral Patol Oral Cir Bucal. 2006. PMID: 16648759 Free article. Review.
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. ...In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and …
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. ...In t …
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. del Campo M, et al. Am J Med Genet. 1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. Am J Med Genet. 1999. PMID: 10405446 Review.
This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance....
This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this un …