P Bakrania, DO Robinson, DJ Bunyan, A Salt, A … - British Medical …, 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 prior to final publication). Online ... Cited by 6 - Related articles - All 2 versions
P Bakrania, DO Robinson, DJ Bunyan… - bjo.bmj.com SOX2 anophthalmia syndrome: twelve new cases demonstrating broader phenotype and high
frequency of large gene deletions. **Bakrania P1, **Robinson DO2, Bunyan DJ2, Salt A3,4, Martin
A1, Crolla JA2, Wyatt A1, Fielder A5, Ainsworth J 6, Moore A3, Read S2, Uddin J3, Laws ... Related articles
[CITATION] Van-der-Nat H, Van-den-Brande JL, Rosenfeld MG, Ingraham HA: Mutation of the …
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
P Bakrania, DO Robinson, DJ Bunyan, A Salt, A … - British Journal of …, 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 previously reported c.70del20 mutation. Of 52 ... Cited by 15 - Related articles - BL Direct - All 4 versions
- ►eje-online.org N Sato, Y Kamachi, H Kondoh, Y Shima, K Morohashi … - European Journal of …, 2007 - EFES Objective: Heterozygous SOX2 mutations have recently been reported to cause isolated hypogonadotropic
hypogonadism (HH), in addition to ocular and brain abnormalities. Here, we report a further case
with a heterozygous hypomorphic SOX2 mutation and isolated HH. Cited by 15 - Related articles - BL Direct - All 7 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
