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Items: 1 to 20 of 110

1.

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.

Hosseini MM, Tonekaboni SH, Papari E, Bahman I, Behjati F, Kahrizi K, Najmabadi H.

J Pak Med Assoc. 2012 Nov;62(11):1244-7.

2.

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
3.

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

Ghafouri-Fard S, Fardaei M, Gholami M, Miryounesi M.

Gene. 2015 Oct 15;571(1):149-50. doi: 10.1016/j.gene.2015.07.058. Epub 2015 Jul 18.

PMID:
26192461
4.

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.

5.

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.

6.

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
7.

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
8.

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H.

Hum Mutat. 2005 Nov;26(5):496.

PMID:
16211557
9.

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.

10.

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
11.

Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

Perche O, Menuet A, Marcos M, Liu L, Pâris A, Utami KH, Kervran D, Cacheux V, Laudier B, Briault S.

Eur J Med Genet. 2013 Nov;56(11):635-41. doi: 10.1016/j.ejmg.2013.07.007. Epub 2013 Sep 4.

PMID:
24013099
12.

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
13.

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
14.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP.

Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15.

15.

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
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.

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.

18.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG.

J Med Genet. 2002 Oct;39(10):718-21.

19.

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
20.

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
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