195 related articles for article (PubMed ID: 22308068)
1. WDR62 missense mutation in a consanguineous family with primary microcephaly.
Bacino CA; Arriola LA; Wiszniewska J; Bonnen PE
Am J Med Genet A; 2012 Mar; 158A(3):622-5. PubMed ID: 22308068
[TBL] [Abstract][Full Text] [Related]
2. WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK; Khurshid M; Désir J; Carvalho OP; Cox JJ; Thornton G; Kausar R; Ansar M; Ahmad W; Verloes A; Passemard S; Misson JP; Lindsay S; Gergely F; Dobyns WB; Roberts E; Abramowicz M; Woods CG
Nat Genet; 2010 Nov; 42(11):1010-4. PubMed ID: 20890279
[TBL] [Abstract][Full Text] [Related]
3. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI; Rasool M; Sogaty S; Chaudhary RA; Mansour HM; Chaudhary AG; Abuzenadah AM; Al-Qahtani MH
Ann Saudi Med; 2017; 37(2):148-153. PubMed ID: 28377545
[TBL] [Abstract][Full Text] [Related]
4. A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Memon MM; Raza SI; Basit S; Kousar R; Ahmad W; Ansar M
Mol Biol Rep; 2013 Jan; 40(1):591-5. PubMed ID: 23065275
[TBL] [Abstract][Full Text] [Related]
5. 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
Mol Genet Genomic Med; 2020 Sep; 8(9):e1408. PubMed ID: 32677750
[TBL] [Abstract][Full Text] [Related]
6. 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
J Appl Genet; 2019 May; 60(2):151-162. PubMed ID: 30706430
[TBL] [Abstract][Full Text] [Related]
7. A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
Nardello R; Fontana A; Antona V; Beninati A; Mangano GD; Stallone MC; Mangano S
Brain Dev; 2018 Jan; 40(1):58-64. PubMed ID: 28756000
[TBL] [Abstract][Full Text] [Related]
8. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
Cherkaoui Jaouad I; Zrhidri A; Jdioui W; Lyahyai J; Raymond L; Egéa G; Taoudi M; El Mouatassim S; Sefiani A
BMC Med Genet; 2018 Jul; 19(1):118. PubMed ID: 30021525
[TBL] [Abstract][Full Text] [Related]
9. 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
Ann Saudi Med; 2016; 36(6):391-396. PubMed ID: 27920410
[TBL] [Abstract][Full Text] [Related]
10. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
Khan A; Wang R; Han S; Ahmad W; Zhang X
Genet Test Mol Biomarkers; 2018 Mar; 22(3):159-164. PubMed ID: 29431480
[TBL] [Abstract][Full Text] [Related]
11. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Wang R; Khan A; Han S; Zhang X
J Hum Genet; 2017 Feb; 62(2):299-304. PubMed ID: 27784895
[TBL] [Abstract][Full Text] [Related]
12. Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I; Baig SM; Abdulkareem AR; Hussain MS; Sur I; Toliat MR; Nürnberg G; Dalibor N; Moawia A; Waseem SS; Asif M; Nagra H; Sher M; Khan MMA; Hassan I; Rehman SU; Thiele H; Altmüller J; Noegel AA; Nürnberg P
Clin Genet; 2017 Jul; 92(1):62-68. PubMed ID: 28004384
[TBL] [Abstract][Full Text] [Related]
13. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
Kousar R; Hassan MJ; Khan B; Basit S; Mahmood S; Mir A; Ahmad W; Ansar M
BMC Neurol; 2011 Oct; 11():119. PubMed ID: 21961505
[TBL] [Abstract][Full Text] [Related]
14. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Tan CA; del Gaudio D; Dempsey MA; Arndt K; Botes S; Reeder A; Das S
Clin Genet; 2014 Apr; 85(4):353-8. PubMed ID: 23611254
[TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
Saadi A; Borck G; Boddaert N; Chekkour MC; Imessaoudene B; Munnich A; Colleaux L; Chaouch M
Eur J Med Genet; 2009; 52(4):180-4. PubMed ID: 19332161
[TBL] [Abstract][Full Text] [Related]
16. 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
Clin Genet; 2011 Dec; 80(6):532-40. PubMed ID: 21496009
[TBL] [Abstract][Full Text] [Related]
17. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
Aryan H; Zokaei S; Farhud D; Keykhaei M; Ashrafi MR; Rasulinezhad M; Hosseini SMM; Razmara E; Tavasoli AR
Ir J Med Sci; 2022 Dec; 191(6):2733-2741. PubMed ID: 35031939
[TBL] [Abstract][Full Text] [Related]
18. Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.
Bastaki F; Mohamed M; Nair P; Saif F; Tawfiq N; Aithala G; El-Halik M; Al-Ali M; Hamzeh AR
Congenit Anom (Kyoto); 2016 May; 56(3):135-7. PubMed ID: 26577670
[TBL] [Abstract][Full Text] [Related]
19. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
Khan MA; Windpassinger C; Ali MZ; Zubair M; Gul H; Abbas S; Khan S; Badar M; Mohammad RM; Nawaz Z
J Genet; 2017 Jun; 96(2):383-387. PubMed ID: 28674240
[TBL] [Abstract][Full Text] [Related]
20. Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M; Marriam Bakhtiar S; Farooq M; Anjum I; Janzen E; Reza Toliat M; Eiberg H; Kjaer KW; Tommerup N; Noegel AA; Nürnberg P; Baig SM; Hansen L
Clin Genet; 2013 May; 83(5):446-51. PubMed ID: 22775483
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]