P Bakrania, DO Robinson, DJ Bunyan, A Salt, … - British Journal of Ophthalmology, 2007 - bjo.bmj.com Results: We identified four novel intragenic SOX2 mutations (one single base
deletion, one single base duplication and two point mutations generating
premature translational termination codons) and two further cases with the ... Cited by 15 - Related articles - BL Direct - All 4 versions
A Wyatt, P Bakrania, DJ Bunyan, RJ Osborne, … - Hum Mutat, 2008 - interscience.wiley.com Severe ocular malformations, including anophthalmia-microphthalmia (AM), are
responsible for around 25% of severe visual impairment in childhood. Recurrent
interstitial deletions of 14q22-23 are associated with AM and a wide range ... Cited by 8 - Related articles - All 2 versions
AS Verma, DR FitzPatrick - Orphanet journal of rare diseases, 2007 - ojrd.com Anophthalmia and microphthalmia describe, respectively, the absence of an eye
and the presence of a small eye within the orbit. The combined birth prevalence
of these conditions is up to 30 per 100,000 population, with microphthalmia ... Cited by 21 - Related articles - Cached - All 10 versions
JC Zenteno, G Gascon-Guzman, JL Tovilla- … - Clinical genetics, 2005 - cat.inist.fr Bilateral anophthalmia and brain malformations caused by a 20-bp deletion
in the SOX 2 gene. JC ZENTENO, G GASCON-GUZMAN, JL TOVILLA ... Cited by 29 - Related articles - All 2 versions
L Faivre, KA Williamson, V Faber, N Laurent, … - American journal of medical genetics. Part A, 2006 - cat.inist.fr Recurrence of SOX 2 anophthalmia syndrome with gonosomal mosaicism in a
phenotypically normal mother. Laurence FAIVRE, Kathleen A ... Cited by 23 - Related articles - BL Direct - All 4 versions
J Zhou, F Kherani, TM Bardakjian, J … - Molecular Vision, 2008 - pubmedcentral.nih.gov 1Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia,
PA; 2Division of Genetics, Children's Hospital of Philadelphia, Philadelphia,
PA; 3Division of Genetics, Albert Einstein Medical Center, Philadelphia, ... Cited by 4 - Related articles - All 6 versions
- ►endojournals.org D Kelberman, SCP De Castro, S Huang, JA … - Journal of Clinical Endocrinology & Metabolism, 2008 - Endocrine Soc Results: All three patients harbored heterozygous SOX2 mutations: a deletion
encompassing the entire gene, an intragenic deletion (c.70_89del), and a novel
nonsense mutation (p.Q61X) within the DNA binding domain that results in ... Cited by 18 - Related articles - BL Direct - All 4 versions
P Wang, X Liang, J Yi, Q Zhang - Archives of Ophthalmology, 2008 - Am Med Assoc Results A novel heterozygous c.695C>A (p.Thr232Asn) mutation in SOX2 was
identified in a Chinese family in which both the father and the son had iris and
chorioretinal uveal colobomas. In addition, cataracts were noted in the ... Cited by 5 - Related articles - BL Direct - All 3 versions
N Chassaing, B Gilbert-Dussardier, F Nicot, … - American journal of medical genetics. Part A, 2007 - cat.inist.fr Germinal mosaicism and familial recurrence of a SOX 2 mutation with highly variable
phenotypic expression extending from AEG syndrome to absence of ocular ... Cited by 12 - Related articles - BL Direct - All 3 versions
P Bakrania, DO Robinson, DJ Bunyan, A Salt, … - British Medical Journal, 2007 - bjo.bmj.com Online First articles must include the digital object identifier (DOIs) and date
of initial publication. establish publication priority; they are indexed by
PubMed from initial publication. Citations to may be posted when available ... Cited by 6 - Related articles - All 2 versions
