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Scholar Results 1 - 10 of about 101 related to Jamieson: Chromosomal translocation in a family with ocular anomalies: indications for karyotype.... (0.09 sec) 

Chromosomal translocation in a family with ocular anomalies: indications for karyotype …

- bmj.com [PDF] 
RV Jamieson, L Gaunt, D Donnai, GCM Black, … - British Medical Journal, 2003 - bjo.bmj.com
Corneal deposits after the topical use of ofloxacin in two children with vernal
keratoconjunctivitis Topical fluoroquinolones are broad spectrum, bactericidal
agents with activity against both Gram positive and Gram negative corneal ...
Cited by 3 - Related articles - All 7 versions

[CITATION] B Maria G. Molecular characterization of a familial translocation implicates disruption of …


D David, J Cardoso, B Marques, R Marques, … - Genomics, 2003
Cited by 2 - Related articles

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in …


AO Khan, MA Aldahmesh, A Al-Amri - Ophthalmic Genetics, 2008 - informahealthcare.com
Purpose: To report the genetic basis for congenital glaucoma with clinical
aniridia in an infant and a milder phenotype in her mother. Methods: Prospective
case series. Results: An infant girl with almost complete lack of iris ...
Cited by 3 - Related articles - BL Direct - All 5 versions

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' …


N Weisschuh, C Wolf, B Wissinger, E Gramer - Clin Genet, 2008 - interscience.wiley.com
Peters anomaly and Axenfeld–Rieger syndrome (ARS) belong to the overlapping
spectrum of disorders summarized as anterior segment dysgenesis (ASD). Five
patients from a family with Peters' anomaly and ARS were screened for ...
Cited by 3 - Related articles - All 3 versions

Multiple congenital malformations including severe eye anomalies and abnormal cerebellar …


LMA Moreira, FB Neri, SQ Uze^ da, AFL … - Ophthalmic Genetics, 2005 - informahealthcare.com
Purpose: Ocular anomalies have been associated with numerous chromosomal
abnormalities. This report describes partial trisomy 3q in a two-month-old girl
with dysmorphic features of the Dup3q phenotype and severe eye and ...
Cited by 4 - Related articles - All 5 versions

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome


N Fuse, K Takahashi, S Yokokura, K Nishida - Mol Vis, 2007 - molvis.org
Results: Sequence analysis of the FOXC1 gene revealed a novel Ala85Pro missense
mutation in Helix1 in family 1 and a deletion of 17 nucleotides (437-453) in
Wing1 and Beta2 within the forkhead domain of the FOXC1 gene in family 2. ...
Cited by 4 - Related articles - Cached - All 4 versions

[CITATION] Autosomal dominant congenital cataract associated with chromosomal translocation


PD Reese, CM Tuck-Muller, IH Maumenee - Arch Ophthalmol, 1987
Cited by 4 - Related articles

FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the …

- oxfordjournals.org
FB Berry, JM Skarie, F Mirzayans, Y Fortin, … - Human Molecular Genetics, 2008 - Oxford Univ Press
Mutations in the human FOXC1 transcription factor gene underlie
Axenfeld–Rieger (AR) syndrome, a disorder characterized by anterior segment
malformations in the eye and glaucoma. Through the use of an inducible ...
Cited by 5 - Related articles - BL Direct - All 5 versions

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid …


A Carré, M Castanet, S Sura-Trueba, G Szinnai … - Human Genetics, 2007 - Springer
Abstract Familial cases of congenital hypothyroidism from thyroid dysgenesis
(TD) (OMIM 218700) occur with a frequency 15-fold higher than by chance, FOXE1
is one of the candidate genes for this genetic predisposition and contains ...
Cited by 5 - Related articles - All 2 versions

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

- nih.gov
DF Schorderet, O Nichini, G Boisset, B Polok, … - The American Journal of Human Genetics, 2008 - Elsevier
Several dysmorphic syndromes affect the development of both the eye and the ear,
but only a few are restricted to the eye and the external ear. We describe a
developmental defect affecting the eye and the external ear in three ...
Cited by 5 - Related articles - All 6 versions


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