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Results: 1 to 20 of 128

Similar articles for PubMed (Select 22775483)

1.

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
2.

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.

3.

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
4.

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
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.

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.

7.

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
8.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H.

J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26. Erratum in: J Med Genet. 2014 Jan;51(1):70. Ghani-Kakhi, M [corrected to Ghani, M].

PMID:
20978018
9.

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.

Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC.

Clin Genet. 2004 Oct;66(4):341-8.

PMID:
15355437
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.

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Kumar A, Girimaji SC, Duvvari MR, Blanton SH.

Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017.

12.

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.

13.

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
14.

Autosomal recessive primary microcephalies (MCPH).

Kaindl AM.

Eur J Paediatr Neurol. 2014 Jul;18(4):547-8. doi: 10.1016/j.ejpn.2014.03.010. Epub 2014 Apr 16.

PMID:
24780602
15.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.

Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003.

16.

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Woods CG, Bond J, Enard W.

Am J Hum Genet. 2005 May;76(5):717-28. Epub 2005 Mar 31. Review.

17.

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.

18.

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
19.

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. doi: 10.1111/cge.12172. Epub 2013 May 13.

PMID:
23611254
20.

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
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