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Items: 1 to 20 of 161

1.

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. doi: 10.1007/s11033-012-2097-7. Epub 2012 Oct 14.

PMID:
23065275
2.

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 1;11:119. doi: 10.1186/1471-2377-11-119.

3.

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. doi: 10.1002/ajmg.a.34417. Epub 2012 Feb 3.

PMID:
22308068
4.

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. doi: 10.1111/j.1399-0004.2011.01686.x. Epub 2011 May 16.

PMID:
21496009
5.

Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.

Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W.

J Neurogenet. 2007 Jul-Sep;21(3):153-63.

PMID:
17849285
6.

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. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7.

PMID:
22775483
7.

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M.

Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22.

8.

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.

J Hum Genet. 2006;51(9):760-4. Epub 2006 Aug 10.

PMID:
16900296
9.

A novel single base pair duplication in WDR62 causes primary microcephaly.

Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A.

BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4.

10.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W.

BMC Med Genet. 2007 Sep 1;8:58.

11.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.

J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6.

PMID:
19808985
12.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.

13.

ASPM mutations identified in patients with primary microcephaly and seizures.

Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.

J Med Genet. 2005 Sep;42(9):725-9.

14.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.

Neurogenetics. 2006 May;7(2):105-10. Epub 2006 Apr 21.

PMID:
16673149
15.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Farag HG, Froehler S, Oexle K, Ravindran E, Schindler D, Staab T, Huebner A, Kraemer N, Chen W, Kaindl AM.

Orphanet J Rare Dis. 2013 Nov 14;8:178. doi: 10.1186/1750-1172-8-178.

16.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.

Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30.

PMID:
22989526
17.

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 Jul-Aug;52(4):180-4. doi: 10.1016/j.ejmg.2009.03.013. Epub 2009 Mar 28.

PMID:
19332161
18.

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Mahmood S, Ahmad W, Hassan MJ.

Orphanet J Rare Dis. 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. Review.

19.

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M.

Am J Med Genet A. 2008 Jun 1;146A(11):1439-43. doi: 10.1002/ajmg.a.32312.

PMID:
18452193
20.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA.

Nat Genet. 2010 Nov;42(11):1015-20. doi: 10.1038/ng.683. Epub 2010 Oct 3.

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