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Quoted phrase not found in phrase index: "Microcephaly 24, primary, autosomal recessive"
Page 1
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G. Rosin N, et al. Hum Mol Genet. 2015 Jul 1;24(13):3708-17. doi: 10.1093/hmg/ddv115. Epub 2015 Apr 3. Hum Mol Genet. 2015. PMID: 25839420 Free article.
The clinical phenotype presented in these patients was characterized by severe microcephaly, facial dysmorphism and short stature, but they did not show a recognizable immunological phenotype. ...Taken together, our data provide evidence that autosomal recessive …
The clinical phenotype presented in these patients was characterized by severe microcephaly, facial dysmorphism and short stature, bu …
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H. Tsutsumi M, et al. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. doi: 10.1038/ejhg.2016.119. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650967 Free PMC article.
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive microcephaly, although the association between centrosomal defects and the etiology of microcephaly syndromes is not fully underst …
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive m …
Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Batool T, Irshad S, Mahmood K. Batool T, et al. Braz J Biol. 2021 Aug 6;83:e246040. doi: 10.1590/1519-6984.246040. eCollection 2021. Braz J Biol. 2021. PMID: 34378666 Free article.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic …
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally …
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Kumar A, et al. Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017. Am J Hum Genet. 2009. PMID: 19215732 Free PMC article.
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. ...The combined multipoint LOD score was 6.97 between markers D1S2797 and D1S417. Previously, mutat …
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal b …
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Jouan L, et al. Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197979 Free PMC article.
Agenesis of the corpus callosum (ACC) is a common brain malformation which can be observed either as an isolated condition or as part of numerous congenital syndromes. ...[Gly94Arg];[Asn1232Ser], in the protein encoded by the CDK5RAP2 gene, also known as MCPH3, a gene prev …
Agenesis of the corpus callosum (ACC) is a common brain malformation which can be observed either as an isolated condition or as part …
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M. Genin A, et al. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983954
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with …
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary …
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 the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior later …
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. ...In t …
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J. Leung JW, et al. J Biol Chem. 2011 Jun 17;286(24):21393-400. doi: 10.1074/jbc.M110.208793. Epub 2011 Apr 22. J Biol Chem. 2011. PMID: 21515671 Free PMC article.
Primary microcephaly is an autosomal recessive disorder characterized by marked reduction in human brain size. Microcephalin (MCPH1), one of the genes mutated in primary microcephaly, plays an important role in DNA damage checkpoint contr …
Primary microcephaly is an autosomal recessive disorder characterized by marked reduction in human brain size. M …
A novel single base pair duplication in WDR62 causes primary microcephaly.
Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A. Rupp V, et al. BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. BMC Med Genet. 2014. PMID: 25303973 Free PMC article.
BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. CASE PRESENTATION: In this study we report on three Pakistani …
BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with …