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Items: 1 to 20 of 96

2.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.

Mol Vis. 2010 Jun 23;16:1162-8.

3.

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.

4.
5.

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.

PLoS One. 2017 Jan 19;12(1):e0170280. doi: 10.1371/journal.pone.0170280. eCollection 2017.

6.

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M.

Gene. 2013 Oct 10;528(2):288-94. doi: 10.1016/j.gene.2013.06.045. Epub 2013 Jun 29.

PMID:
23820083
8.

Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.

Wada K, Matsushima Y, Tada T, Hasegawa S, Obara Y, Yoshizawa Y, Takahashi G, Hiai H, Shimanuki M, Suzuki S, Saitou J, Yamamoto N, Ichikawa M, Watanabe K, Kikkawa Y.

PLoS One. 2014 Oct 27;9(10):e111432. doi: 10.1371/journal.pone.0111432. eCollection 2014.

9.

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B.

Am J Hum Genet. 2006 Aug;79(2):358-64. Epub 2006 Jun 8.

10.

The fate of 12 recessive mutations in a single village.

Zlotogora J, Hujerat Y, Barges S, Shalev SA, Chakravarti A.

Ann Hum Genet. 2007 Mar;71(Pt 2):202-8.

11.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.

Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.

12.

A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice.

Wada K, Maeda YY, Watanabe K, Oshio T, Ueda T, Takahashi G, Yokohama M, Saito J, Seki Y, Takahama S, Ishii R, Shitara H, Taya C, Yonekawa H, Kikkawa Y.

Mamm Genome. 2011 Dec;22(11-12):693-702. doi: 10.1007/s00335-011-9358-y. Epub 2011 Oct 15.

PMID:
22002806
13.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME.

Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12.

14.

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.

Hum Genet. 2004 Sep;115(4):302-9.

PMID:
15257456
15.

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.

Yescas P, Huertas-Vazquez A, Villarreal-Molina MT, Rasmussen A, Tusié-Luna MT, López M, Canizales-Quinteros S, Alonso ME.

Neurogenetics. 2006 Jul;7(3):195-200. Epub 2006 Apr 21.

PMID:
16628450
16.

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.

Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, Webb TR, Bhattacharya SS, Ebenezer ND, Morris AG, Hardcastle AJ.

PLoS One. 2012;7(9):e45495. doi: 10.1371/journal.pone.0045495. Epub 2012 Sep 25.

17.

Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin.

Couture P, Bovill EG, Demers C, Simard J, Delage R, Scott BT, Valliere JE, Callas PW, Jomphe M, Rosendaal FR, Aiach M, Long GL.

Thromb Haemost. 2001 Oct;86(4):1000-6.

PMID:
11686315
18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Oros KK, Leblanc G, Arcand SL, Shen Z, Perret C, Mes-Masson AM, Foulkes WD, Ghadirian P, Provencher D, Tonin PN.

BMC Med Genet. 2006 Mar 15;7:23.

20.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877

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