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D40/KNL1/CASC5 and autosomal recessive primary microcephaly.
Takimoto M. Takimoto M. Congenit Anom (Kyoto). 2017 Nov;57(6):191-196. doi: 10.1111/cga.12252. Epub 2017 Nov 1. Congenit Anom (Kyoto). 2017. PMID: 28901661 Review.
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. ...Although our previous studies showed that this gene is required for cell growth and division in vitro and in animal experiments, th …
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduc …
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Mahmood S, Ahmad W, Hassan MJ. Mahmood S, et al. Orphanet J Rare Dis. 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. Orphanet J Rare Dis. 2011. PMID: 21668957 Free PMC article. Review.
Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. ...Genetic counseling and clinical management through carrier dete …
Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduce …
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L. Zombor M, et al. J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1. J Appl Genet. 2019. PMID: 30706430 Review.
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. ...Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to conge …
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe mi …
The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly.
Razuvaeva AV, Graziadio L, Palumbo V, Pavlova GA, Popova JV, Pindyurin AV, Bonaccorsi S, Somma MP, Gatti M. Razuvaeva AV, et al. Cells. 2023 Mar 16;12(6):922. doi: 10.3390/cells12060922. Cells. 2023. PMID: 36980263 Free PMC article. Review.
Subsequent studies showed that asp is highly conserved and that mutations in its human ortholog ASPM (Abnormal Spindle-like Microcephaly-associated; or MCPH5) are the most common cause of autosomal recessive primary microcephaly. ...Our hypothes …
Subsequent studies showed that asp is highly conserved and that mutations in its human ortholog ASPM (Abnormal Spindle-like Microcephaly …
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 …