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
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
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
M Mihelec, L St Heaps, M Flaherty, F Billson … - Twin Research and Human Genetics, 2008 - Aus Acad Press Disorders of eye development such as microph- thalmia and anophthalmia (small
and absent eyes respectively), anterior segment dysgenesis where there may be
pupillary and iris anomalies, and associ- ated cataract and glaucoma, often ... Cited by 2 - Related articles - All 4 versions
KS Alatzoglou, D Kelberman, MT Dattani - Journal of Endocrinology, 2009 - Soc Endocrinology Pituitary development is a complex process that depends on the co-ordinated
spatial and temporal expression of transcription factors and signalling
molecules that culminates in the formation of a complex organ that secretes ... Cited by 2 - Related articles - All 3 versions
EA Webb, MT Dattani - European Journal of Human Genetics, 2009 - nature.com The European Journal of Human Genetics is the official Journal of the European Society
of Human Genetics, publishing high-quality, original research papers, short ... Cited by 1 - Related articles - All 3 versions
AW Wyatt, N Ragge, 2009 - pubmedcentral.nih.gov Whole gene deletions or duplications are an important cause of genetic disease
and phenotypic variation. Targeted techniques for the routine testing of gross
rearrangements have become essential tools for diagnostic researchers with ... Related articles - All 5 versions
S Sisodiya - Current opinion in neurology, 2008 - journals.lww.com Recent findings: Continued work on biological links between brain and eye or
face has uncovered further genetic abnormalities causing facial or eye
anomalies, which in either case may clearly indicate changes in the ... Related articles - All 5 versions
L Pedace, M Castori, F Binni, A Pingi, B … - European Journal of Medical Genetics, 2009 - Elsevier Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which
recognizes a wide range of causes, including chromosomal abnormalities,
single-gene mutations as well as environmental factors. Heterozygous ... Related articles - All 2 versions
O Puk, C Dalke, J Calzada-Wack, N Ahmad, M … - Investigative Ophthalmology & Visual Science, 2009 - ARVO Page 1. 1 Reduced corneal thickness and enlarged anterior chamber in a
novel ColVIIIa2 G257D mutant mouse Oliver Puk 1 , Claudia ... Related articles - All 2 versions
