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Scholar Results 1 - 10 of 12 citing Hornby: The familial contribution to non-syndromic ocular coloboma in south India. (0.16 sec) 

Eye birth defects in humans may be caused by a recessively--inherited genetic predisposition …


SJ Homby, SJ Ward, CE Gillbert - Medical Science Monitor, 2003 - grande.nal.usda.gov
Title: Eye birth defects in humans may be caused by a recessively-inherited
genetic predisposition to the effects of maternal vitamin A deficiency during
pregnancy. Author: Hornby,-SJ; Ward,-SJ; Gilbert,-CE Citation: ...
Cited by 17 - Related articles - Cached - BL Direct - All 5 versions

Uveal coloboma: clinical and basic science update


L Chang, D Blain, S Bertuzzi, BP Brooks - Current Opinion in Ophthalmology, 2006 - journals.lww.com
Purpose of review To integrate knowledge on the embryologic and molecular basis
of optic fissure closure with clinical observations in patients with uveal
coloboma. Recent findings Closure of the optic fissure has been well ...
Cited by 11 - Related articles - BL Direct - All 2 versions

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and …

- oxfordjournals.org
CY Gregory-Evans, M Moosajee, MD Hodges, … - Human Molecular Genetics, 2007 - Oxford Univ Press
We ascertained three different families affected with oto-dental syndrome, a
rare but severe autosomal-dominant craniofacial anomaly. All affected patients
had the unique phenotype of grossly enlarged molar teeth (globodontia) ...
Cited by 7 - Related articles - BL Direct - All 4 versions

An essential role for frizzled 5 in mammalian ocular development

- biologists.org
C Liu, J Nathans - Development, 2008 - dev.biologists.org
Microphthalmia, coloboma and persistent fetal vasculature within the vitreous
cavity are among the most common human congenital ocular anomalies, and each has
been associated with a variety of genetic disorders. Here we show that, in ...
Cited by 3 - Related articles - All 3 versions

Consanguinity and eye diseases with a potential genetic etiology. Data from a prevalence …


PK Nirmalan, S Krishnaiah, R Nutheti, BR … - Ophthalmic Epidemiology, 2006 - informahealthcare.com
Purpose: To determine the prevalence of consanguinity and its potential
associations with eye diseases in Andhra Pradesh state of south India. Methods:
As part of a demographic interview schedule, prior to clinical ...
Cited by 3 - Related articles - BL Direct - All 4 versions

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region


NH Elcioglu, B Akin, E Toker, M Elcioglu, A … - American journal of medical genetics. Part A, 2007 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Related articles - BL Direct - All 3 versions

SNP genome scanning localises oto-dental syndrome to chromosome 11q13 and …


CC Campus - Human Molecular Genetics - Oxford Univ Press
Page 1. 1 SNP genome scanning localises oto-dental syndrome to chromosome 11q13
and microdeletions at this locus implicate FGF3 in dental and ...
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Microphthalmos: Clinical and Ultrasonographic Findings


SH Ugurbas, G Zilelioglu, I Günalp, S Kargi - Annals of Ophthalmology, 2007 - Springer
Microphthalmos is a rare developmental disorder defined as an eye with a total
axial length more than two standard deviations smaller than the normal for that
age group. This description corresponds to an axial length less than 19.2 ...
Related articles - BL Direct - All 2 versions

[PDF] Genetic Causes of Congenital Malformation in India


G Talukder, A Sharma - INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2006 - krepublishers.com
ABSTRACT Congenital malformations are a major cause of death of neonates in
India where prenatal detection and treatment are not adequate in many hospitals
and health centers. Incidence is specially high in stillbirths. It is not ...
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[CITATION] Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region …


NH Elcioglu - American Journal of Medical Genetics Part A, 2007 - Wiley Subscription Services, Inc., A Wiley Company …
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