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Quoted phrase not found in phrase index: "Microcephaly 15, primary, autosomal recessive"
Page 1
YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits.
Liu X, Yang J, Li Z, Liu R, Wu X, Zhang Z, Lai L, Li Z, Song Y. Liu X, et al. Neurobiol Dis. 2023 Jun 15;182:106135. doi: 10.1016/j.nbd.2023.106135. Epub 2023 May 2. Neurobiol Dis. 2023. PMID: 37142085 Free article.
Primary microcephaly (PMCPH) is a rare autosomal recessive neurodevelopmental disorder with a global prevalence of PMCPH ranging from 0.0013% to 0.15%. Recently, a homozygous missense mutation in YIPF5 (p.W218R) was identified as a causative mut …
Primary microcephaly (PMCPH) is a rare autosomal recessive neurodevelopmental disorder with a global prevalence …
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.
Razmara E, Azimi H, Tavasoli AR, Fallahi E, Sheida SV, Eidi M, Bitaraf A, Farjami Z, Daneshmand MA, Garshasbi M. Razmara E, et al. Eur J Med Genet. 2020 Dec;63(12):104096. doi: 10.1016/j.ejmg.2020.104096. Epub 2020 Nov 11. Eur J Med Genet. 2020. PMID: 33186761
Mutations in MFSD2A dysregulate the activity of this transporter in brain endothelial cells and can lead to microcephaly. In this study, we describe an 11-year-old male who is affected by autosomal recessive primary microcephaly 15. ...Ne …
Mutations in MFSD2A dysregulate the activity of this transporter in brain endothelial cells and can lead to microcephaly. In this stu …
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Wang R, Khan A, Han S, Zhang X. Wang R, et al. J Hum Genet. 2017 Feb;62(2):299-304. doi: 10.1038/jhg.2016.128. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784895
Primary microcephaly is genetically heterogeneous, with most cases showing autosomal recessive inheritance. We designed a panel containing 46 primary microcephaly-causing genes and performed mutation screening in 23 Pakistani families wit …
Primary microcephaly is genetically heterogeneous, with most cases showing autosomal recessive inheritance. We d …
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X, Liu Q, Jiang J, Tang W, Ding Y, Zhou L, Yu J, Tang X, An Y, Zhao X. Luo X, et al. Front Immunol. 2021 Sep 24;12:695993. doi: 10.3389/fimmu.2021.695993. eCollection 2021. Front Immunol. 2021. PMID: 34630384 Free PMC article.
DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by mutations in LIG4. ...In this study, the clinical, molecular, and immunological characteristics of 15 Chinese patients with LIG4 deficie …
DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by mut …
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Abdel-Hamid MS, et al. Am J Med Genet A. 2016 Aug;170(8):2133-40. doi: 10.1002/ajmg.a.37724. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250695
Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. ...Thirteen protein truncating mutations of the ASPM were id …
Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development …
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. We present here a consanguineous Turkish family clinically diagnosed with MCPH and without linkage to …
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction …
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, Wamelink MMC, Saada A, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Metab Brain Dis. 2019 Apr;34(2):557-563. doi: 10.1007/s11011-019-0384-x. Epub 2019 Jan 12. Metab Brain Dis. 2019. PMID: 30637540 Review.
Deficiency of DGK leads to accumulation of D-glycerate in various tissues and its massive excretion in urine. D-glyceric aciduria (DGA) is an autosomal recessive metabolic disorder caused by mutations in the GLYCTK gene. ...We describe a male patient from a consangu …
Deficiency of DGK leads to accumulation of D-glycerate in various tissues and its massive excretion in urine. D-glyceric aciduria (DGA) is a …
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.
Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J. Xu S, et al. Clin Dysmorphol. 2022 Jan 1;31(1):1-5. doi: 10.1097/MCD.0000000000000395. Clin Dysmorphol. 2022. PMID: 34693918
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. ...
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high …
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.
Kraakman-van der Zwet M, Overkamp WJ, Friedl AA, Klein B, Verhaegh GW, Jaspers NG, Midro AT, Eckardt-Schupp F, Lohman PH, Zdzienicka MZ. Kraakman-van der Zwet M, et al. Mutat Res. 1999 May 14;434(1):17-27. doi: 10.1016/s0921-8777(99)00009-9. Mutat Res. 1999. PMID: 10377945
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency and a high incidence of malignancies. ...Immortalized NBS cells, like primary cells …
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal instability disorder characterized by micro …
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