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Quoted phrase not found in phrase index: "Microcephaly 6, primary, autosomal recessive"
Page 1
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS. Batool T, et al. J Hum Genet. 2023 Jul;68(7):469-475. doi: 10.1038/s10038-023-01132-6. Epub 2023 Mar 3. J Hum Genet. 2023. PMID: 36864288
OBJECTIVE: Mapping of RBBP8 gene mutation that produce autosomal recessive primary microcephaly. Insilco RBBP8 protein models prediction and analysis. ...The deleted variant in the RBBP8 gene in affected siblings (V:4, V:6) of primary …
OBJECTIVE: Mapping of RBBP8 gene mutation that produce autosomal recessive primary microcephaly. Insilco RBBP8 p …
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. ...MAIN OUTCOME MEASURE(S): Detection of mutation in the ASPM gene in a family segregating autoso- mal recessive primary …
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disord …
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Zorn M, Kühnisch J, Bachmann S, Seifert W. Zorn M, et al. Sci Rep. 2022 Jun 11;12(1):9686. doi: 10.1038/s41598-022-13717-w. Sci Rep. 2022. PMID: 35690661 Free PMC article.
Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by postnatal microcephaly, intellectual disability, and a typical facial gestalt. ...The overexpression of these 6/10 VPS13B missense variants did not rescue the Golgi fr …
Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by postnatal microcephaly, intellectu …
Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.
Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M. Tavasoli AR, et al. J Mol Neurosci. 2022 Apr;72(4):719-729. doi: 10.1007/s12031-021-01955-y. Epub 2022 Jan 4. J Mol Neurosci. 2022. PMID: 34982360
Autosomal recessive microcephaly is a rare clinical condition, which is characterized by reduced brain size that can be associated with delayed intellectual ability, developmental delay, and seizure. In this study, we describe two siblings with microcephal …
Autosomal recessive microcephaly is a rare clinical condition, which is characterized by reduced brain size that can be …
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 maximum two-point LOD score for the linked families was 5.96 at marker D1S386 at theta = 0 …
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal b …
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 …
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A. Bhat V, et al. Clin Genet. 2011 Dec;80(6):532-40. doi: 10.1111/j.1399-0004.2011.01686.x. Epub 2011 May 16. Clin Genet. 2011. PMID: 21496009
Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. ...In addition, WDR62 was also localized to nucleoli. Bioinformatics analysis predicted two overlapping nuclear local …
Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and ment …