scholarly article | Q13442814 |
P356 | DOI | 10.1002/HUMU.21079 |
P698 | PubMed publication ID | 19708017 |
P50 | author | Peter Nürnberg | Q2077335 |
Mark Lathrop | Q6768494 | ||
Martin Farrall | Q28050051 | ||
Gudrun Nürnberg | Q28320150 | ||
Sibel Aylin Ugur | Q51869786 | ||
Muhammad Sajid Hussain | Q55712643 | ||
P2093 | author name string | Jiannis Ragoussis | |
Nicola K Ragge | |||
Robert J Osborne | |||
J Richard O Collin | |||
Angela Martin | |||
Christian Kluck | |||
Ghazala Mirza | |||
Helen Herbert | |||
Alexander William Wyatt | |||
P2860 | cites work | Anophthalmia and microphthalmia | Q21202957 |
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation | Q24295098 | ||
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts | Q24299315 | ||
Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage | Q24309205 | ||
Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice | Q24337406 | ||
Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans | Q24669843 | ||
GDF6, a novel locus for a spectrum of ocular developmental anomalies | Q24680270 | ||
Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5 | Q27731950 | ||
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2 | Q28118291 | ||
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 | Q28142971 | ||
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly | Q28252261 | ||
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family | Q28296595 | ||
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | Q28306313 | ||
Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation | Q28589407 | ||
Allegro, a new computer program for multipoint linkage analysis | Q29618620 | ||
Sequential activation of transcription factors in lens induction | Q30306252 | ||
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome | Q30490281 | ||
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts | Q33931627 | ||
Mutations in SOX2 cause anophthalmia | Q34180637 | ||
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea | Q34282029 | ||
A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects. | Q34945693 | ||
Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces | Q35310908 | ||
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology | Q35438112 | ||
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions | Q36172165 | ||
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways | Q36719098 | ||
Foxe view of lens development and disease | Q36753958 | ||
A practical guide to the management of anophthalmia and microphthalmia | Q36959894 | ||
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma | Q43529911 | ||
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder | Q47742684 | ||
SOX2 anophthalmia syndrome. | Q52053221 | ||
P433 | issue | 10 | |
P304 | page(s) | 1378-1386 | |
P577 | publication date | 2009-10-01 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies | |
P478 | volume | 30 |