- ►nih.gov P Bakrania, M Efthymiou, JC Klein, A Salt, DJ … - The American Journal of …, 2008 - Elsevier Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous
disorders with frequent sporadic or non-Mendelian inheritance. Recurrent interstitial deletions
of 14q22-q23 have been associated with AM, sometimes with poly/syndactyly and ... Cited by 22 - Related articles - BL Direct - All 8 versions
- ►endojournals.org D Kelberman, SCP De Castro, S Huang, JA … - Journal of Clinical …, 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 impaired transactivation. We also ... Cited by 18 - Related articles - BL Direct - All 4 versions
NK Ragge, ID Subak-Sharpe, JRO Collin - Eye, 2007 - nature.com The ophthalmologist is often the primary carer for children with anophthalmia and
microphthalmia, and as such can coordinate the multidisciplinary input needed to offer optimal
care for these individuals, including vision and family support services. They are able to ... Cited by 3 - Related articles - BL Direct - All 2 versions
D Kelberman, MT Dattani - Endocrine Involvement in Developmental …, 2009 - books.google.com Cappa M, Maghnie M, Loche S, Bottazzo GF (eds): Endocrine Involvement in Developmental
Syndromes. Endocr Dev. Basel, Karger, 2009, vol 14, pp 67-82 Role of Transcription Factors
in Mid line Central Nervous System and Pituitary Defects Daniel Kelberman• ... Cited by 1 - Related articles - All 5 versions
DKMT Dattani - Endocr Dev, 2009 - content.karger.com Abstract The anterior pituitary gland is a central regulator of growth, reproduction and
homeostasis, and is the end-product of a carefully orchestrated pattern of expression of signalling
molecules and tran- scription factors leading to the development of this complex organ ... Related articles
M Hmani-Aifa, S Ben Salem, Z Benzina, W Bouassida, … - Human Genetics, 2009 - Springer Abstract Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with
normal anterior segment and small posterior segment resulting in high hyperopia and retinal
folding. It is an uncommon subtype of microphthalmia that has been mostly reported to ... Related articles - All 2 versions