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Items: 1 to 20 of 143

1.

Mutations in ALDH1A3 cause microphthalmia.

Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS.

Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27.

PMID:
23646827
2.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF.

Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3.

PMID:
24777706
3.

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Grønskov K, Tümer Z.

Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25.

PMID:
24024553
4.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA.

Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25.

PMID:
24568872
5.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM.

Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15.

6.

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV.

Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28.

7.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.

Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.

8.

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

Mory A, Ruiz FX, Dagan E, Yakovtseva EA, Kurolap A, Parés X, Farrés J, Gershoni-Baruch R.

Eur J Hum Genet. 2014 Mar;22(3):419-22. doi: 10.1038/ejhg.2013.157. Epub 2013 Jul 24.

9.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S.

Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29.

10.

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS.

Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28.

11.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.

Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.

12.

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P.

Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007. Epub 2009 Feb 28.

PMID:
19254784
13.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.

Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23.

14.

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS.

Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5.

PMID:
22766609
15.

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV.

Clin Genet. 2013 Nov;84(5):473-81. doi: 10.1111/cge.12202. Epub 2013 Jun 17.

16.

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF.

Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002. Epub 2010 Dec 30.

17.

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV.

Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257.

18.

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.

Clin Genet. 2007 Aug;72(2):164-6. No abstract available.

PMID:
17661825
19.

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

White T, Lu T, Metlapally R, Katowitz J, Kherani F, Wang TY, Tran-Viet KN, Young TL.

Mol Vis. 2008;14:2458-65. Epub 2008 Dec 26.

20.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL.

Mol Vis. 2008 Mar 24;14:583-92.

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