Literature DB >> 16470798

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Laurence Faivre1, Kathleen A Williamson, Valérie Faber, Nicole Laurent, Marianne Grimaldi, Christel Thauvin-Robinet, Christine Durand, Francine Mugneret, Jean-Bernard Gouyon, Alain Bron, Frédéric Huet, Caroline Hayward, Veronica van Heyningen, David R Fitzpatrick.   

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Year:  2006        PMID： 16470798     DOI： 10.1002/ajmg.a.31114

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  26 in total

Review 1.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
Journal:  Mol Genet Metab       Date:  2011-09-29       Impact factor: 4.797

Review 2.  Role of SoxB1 transcription factors in development.

Authors:  Satoru Miyagi; Hidemasa Kato; Akihiko Okuda
Journal:  Cell Mol Life Sci       Date:  2009-07-25       Impact factor: 9.261

3.  A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.

Authors:  Yan Zhang; Xibo Zhang; Ran Long; Ling Yu
Journal:  J Genet       Date:  2018-09       Impact factor: 1.166

Review 4.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

5.  FOXE3 plays a significant role in autosomal recessive microphthalmia.

Authors:  Linda M Reis; Rebecca C Tyler; Adele Schneider; Tanya Bardakjian; Joan M Stoler; Serge B Melancon; Elena V Semina
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

6.  Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression.

Authors:  Hiroki Danno; Tatsuo Michiue; Keisuke Hitachi; Akira Yukita; Shoichi Ishiura; Makoto Asashima
Journal:  Proc Natl Acad Sci U S A       Date:  2008-04-02       Impact factor: 11.205

Review 7.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

8.  Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Authors:  Adele Schneider; Tanya Bardakjian; Linda M Reis; Rebecca C Tyler; Elena V Semina
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

9.  Novel SOX2 partner-factor domain mutation in a four-generation family.

Authors:  Marija Mihelec; Peter Abraham; Kate Gibson; Renata Krowka; Rachel Susman; Rebecca Storen; Yongjuan Chen; Jenny Donald; Patrick P L Tam; John R Grigg; Maree Flaherty; Glen A Gole; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

10.  Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Authors:  Adele Schneider; Tanya M Bardakjian; Jie Zhou; Nkecha Hughes; Rosanne Keep; Darnelle Dorsainville; Femida Kherani; James Katowitz; Lisa A Schimmenti; Marybeth Hummel; David R Fitzpatrick; Terri L Young
Journal:  Am J Med Genet A       Date:  2008-11-01       Impact factor: 2.802
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