Literature DB >> 17219395

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Nicolas Chassaing1, Brigitte Gilbert-Dussardier, Florence Nicot, Véronique Fermeaux, Férechté Encha-Razavi, Maryse Fiorenza, Annick Toutain, Patrick Calvas.   

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Year:  2007        PMID： 17219395     DOI： 10.1002/ajmg.a.31524

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


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  18 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.  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

3.  Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

Authors:  Zornitza Stark; Rebecca Storen; Bruce Bennetts; Ravi Savarirayan; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

4.  Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.

Authors:  Linda M Reis; Rebecca C Tyler; Adele Schneider; Tanya Bardakjian; Elena V Semina
Journal:  Mol Vis       Date:  2010-04-28       Impact factor: 2.367

Review 5.  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

6.  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

7.  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

8.  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

Review 9.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

10.  Anophthalmia including next-generation sequencing-based approaches.

Authors:  Philippa Harding; Brian P Brooks; David FitzPatrick; Mariya Moosajee
Journal:  Eur J Hum Genet       Date:  2019-07-29       Impact factor: 4.246
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