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Scholar Results 1 - 10 of about 101 related to Hornby: The familial contribution to non-syndromic ocular coloboma in south India. (0.13 sec) 

The familial contribution to non-syndromic ocular coloboma in south India


SJ Hornby, L Dandona, RB Jones, H Stewart, … - British Journal of Ophthalmology, 2003 - bjo.bmj.com
Aims: To identify the proportion of familial cases of isolated ocular
colobomatous malformations in a case series from south India. ... Methods:
Children with ocular coloboma without systemic features were recruited from ...
Cited by 12 - Related articles - BL Direct - All 8 versions

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of …


R Pallotta, P Fusilli, G Sabatino, A Verrotti, F … - American journal of medical genetics, 1998 - interscience.wiley.com
We report on the occurence of microcornea, coloboma, and macrophthalmia in 4
generations of an Italian family. The patients had no additional physical
anomalies, were of normal intelligence, and had a normal karyotype. This ...
Cited by 13 - Related articles - BL Direct - All 3 versions

First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13. …

- iovs.org
H Vieira, K Gregory-Evans, N Lim, JL … - Investigative ophthalmology & visual science, 2002 - ARVO
METHODS. Full clinical assessments in all affected patients included slit lamp
and retina examination, refraction, A-scan ultrasound, audiograms, and dental
assessments. Genomic DNA from all family members was genotyped, by ...
Cited by 8 - Related articles - BL Direct - All 4 versions

Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree


E Toker, N Elcioglu, E Ozcan, O Yenice, M … - American Journal of Medical Genetics, 2003 - interscience.wiley.com
Colobomatous macrophthalmia with microcornea syndrome (MIM 602499) is a very
rare eye malformation. To date, only two families with a total number of eight
patients have been reported. We report on 13 additional cases in a single ...
Cited by 8 - Related articles - BL Direct - All 3 versions

[CITATION] Environmental risk factors in the aetiology of congenital malformations of the eye in children …


SJ Hornby, SJ Ward, CE Gilbert… - Arch Trop Paediatr, 2002
Cited by 2 - Related articles

[PDF] Otodental syndrome


A Bloch-Zupan, JR Goodman - Orphanet Journal of Rare Diseases, 2006 - biomedcentral.com
Abstract The otodental syndrome also named otodental dysplasia, is characterised
by a striking dental phenotype known as globodontia, associated with
sensorineural high frequency hearing loss and eye coloboma. Globodontia ...
Cited by 4 - Related articles - View as HTML - All 10 versions

[CITATION] Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on …


I Stoilov, AN Akarsu, I Alozie, A Child, M … - American Journal of Human Genetics, 1998 - Chicago: University of Chicago Press, 1949-
Cited by 2 - Related articles

[CITATION] Prognosis for vision in children with coloboma: clinical features and a new phenotypic …


SJ Hornby, S Adolph, CE Gilbert, L Dandona, … - Ophthalmology, 2000
Cited by 3 - Related articles

Fgf19 expression patterns in the developing chick inner ear


H Sánchez-Calderón, J Francisco-Morcillo, G … - Gene Expression Patterns, 2007 - Elsevier
The inner ear is a complex sensorial structure with hearing and balance
functions. A key aim of developmental biology is to understand the molecular and
cellular mechanisms involved in the induction, patterning and innervation ...
Cited by 6 - Related articles - All 3 versions

[CITATION] The association of ocular defects with the otodental syndrome.


GB Winter - Journal of the International Association of Dentistry for …, 1983 - ncbi.nlm.nih.gov
1: J Int Assoc Dent Child. 1983 Dec;14(2):83-7. The association of ocular
defects with the otodental syndrome. Winter GB. Mesh Terms ...
Cited by 6 - Related articles


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