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Results: 1 to 20 of 132

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

PMID:
22308068
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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. doi: 10.1038/ng.682. Epub 2010 Oct 3.

PMID:
20890279
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
21961505
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
16141009
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.

J Med Genet. 2009 Apr;46(4):249-53. doi: 10.1136/jmg.2008.062380. Epub 2008 Nov 21.

PMID:
19028728
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
23587236
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
20890278
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
21668957
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW.

Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749.

PMID:
19353628
[PubMed - indexed for MEDLINE]
16.

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H.

Gene. 2014 Mar 15;538(1):30-5. doi: 10.1016/j.gene.2014.01.027. Epub 2014 Jan 16.

PMID:
24440292
[PubMed - indexed for MEDLINE]
17.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.

Hum Genet. 2006 Feb;118(6):708-15. Epub 2005 Nov 26.

PMID:
16311745
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
24228726
[PubMed - indexed for MEDLINE]
Free Article
19.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG.

Am J Hum Genet. 2003 Nov;73(5):1170-7. Epub 2003 Oct 21.

PMID:
14574646
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
[PubMed - indexed for MEDLINE]

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