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Quoted phrase not found in phrase index: "Microcephaly 15, primary, autosomal recessive"
Page 1
Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.
Venkatesh T, Nagashri MN, Swamy SS, Mohiyuddin SM, Gopinath KS, Kumar A. Venkatesh T, et al. PLoS One. 2013;8(3):e54643. doi: 10.1371/journal.pone.0054643. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472065 Free PMC article.
Mutations in the MCPH1 (microcephalin 1) gene, located at chromosome 8p23.1, result in two autosomal recessive disorders: primary microcephaly and premature chromosome condensation syndrome. ...A low level of MCPH1 promoter methylation was also obse …
Mutations in the MCPH1 (microcephalin 1) gene, located at chromosome 8p23.1, result in two autosomal recessive disorders: p …
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS. Rasool S, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17. Mol Genet Genomic Med. 2020. PMID: 32677750 Free PMC article.
BACKGROUND: Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. ...RESULTS: By employing these techniques individually or in combination, we were able to discern relevant disease-causing DNA …
BACKGROUND: Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectua …
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.
Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction of brain size and mental retardation. ...Our observations point towards a molecular role of the underlying gene product in the regul …
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction …
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. ...In addition, four families were excluded from linkage to the MCPH7 locus as well as all of the six prev …
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal b …
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA, O'Driscoll M. Alderton GK, et al. Nat Cell Biol. 2006 Jul;8(7):725-33. doi: 10.1038/ncb1431. Epub 2006 Jun 18. Nat Cell Biol. 2006. PMID: 16783362
Ataxia-telangiectasia mutated and Rad3 related (ATR)-Seckel syndrome and autosomal recessive primary microcephaly (MCPH) syndrome share clinical features. ...In contrast with ATR-Seckel syndrome cells, MCPH1-mutant cells have low levels of Tyr 15 …
Ataxia-telangiectasia mutated and Rad3 related (ATR)-Seckel syndrome and autosomal recessive primary microcephaly …
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V. Kouprina N, et al. Hum Mol Genet. 2005 Aug 1;14(15):2155-65. doi: 10.1093/hmg/ddi220. Epub 2005 Jun 22. Hum Mol Genet. 2005. PMID: 15972725
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product contains two putative N-terminal calponin-homology …
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gen …
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 …