- ►bmj.com R Sitorus, SM Ardjo, B Lorenz, M Preising - British Medical Journal, 2003 - jmg.bmj.com Two chromosomal locations for PCG on 2p21 (GLC3A, MIM 231300) and 1p36 (GLC3B)
have been reported previously. 2 Recently, a third locus (GLC3C) has been
reported that maps to chromosome 14q24.3. 3 The GLC3A locus colocalises to ... Cited by 27 - Related articles - All 6 versions
G Rudolph, M Preising, P Kalpadakis, C … - Ophthalmic Genetics, 2003 - Informa Pharma Science Abstract Purpose: To perform genotype-phenotype correlations in a family with
choroideremia. Methods: A three-generation family with two affected males and
five carriers was the subject of the study. Mol- ecular genetic analysis ... Cited by 11 - Related articles - BL Direct - All 8 versions
S Heegaard, T Rosenberg, M Preising, JU … - British Journal of Ophthalmology, 2003 - bjo.bmj.com Results: A novel H82Y (244C→T) mutation and a H90D (286G→C) polymorphism
were detected in exon 2 of the AIPL1 gene. Both the cast and the
histopathological examination showed dilated retinal vessels, mainly ... Cited by 10 - Related articles - BL Direct - All 8 versions
V Faugère, S Tuffery-Giraud, C Hamel, M … - BMC genetics, 2003 - biomedcentral.com X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which
encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects
pigment production in the eye, resulting in optic changes associated with ... Cited by 9 - Related articles - Cached - All 9 versions
YY Huang, SC Neuhauss - Front Biosci, 2008 - zool.uzh.ch 1. Abstract 2. Introduction 3. The optokinetic response in vertebrates 4.
Properties of the larval optokinetic response in the zebrafish 4.1. Animal
immobilization 4.2. Optokinetic stimulation 4.3. Recording of eye movements ... Cited by 8 - Related articles - View as HTML - All 4 versions
H Mayeur, O Roche, C Vêtu, C Jaliffa, D … - BMC Medical Genetics, 2006 - biomedcentral.com We sequenced the nine exons of the OA1 gene in 72 individuals and found ten
different mutations in seven unrelated families and three sporadic cases. The
ten mutations include an amino acid substitution and a premature stop codon ... Cited by 7 - Related articles - Cached - All 16 versions
- ►bmj.com S Schindler, M Friedrich, H Wagener, B … - British Medical Journal, 2002 - jmg.bmj.com Craniosynostoses are caused by premature fusion of one or more sutures of the
infant's skull with an incidence between 1:1000 and 1:10 000. 1 Isolated and
syndromic forms can be differentiated and are involved in over 150 genetic ... Cited by 6 - Related articles - BL Direct - All 6 versions
WH Tolleson - Journal of Environmental Science and Health, Part C: …, 2005 - 万方数据资源系统 The human melanocytes of the skin, hair, eyes, inner ears, and covering of the
brain provide physiologic functions important in organ development and
maintenance. Melanocytes develop from embryonic neural crest progenitors ... Cited by 13 - Related articles - BL Direct - All 4 versions
L Lauronen, R Jalkanen, J Huttunen, E … - British journal of ophthalmology, 2005 - bjo.bmj.com Methods: Three families with OA1 were clinically examined. VEFs were measured in
two affected males and in one female carrier to characterise the cortical
activation pattern after monocular visual stimulation. The neuronal sources ... Cited by 6 - Related articles - All 12 versions
M Caversaccio, A Baumann, A Helbling - Auris Nasus Larynx, 2007 - Elsevier Nasal polyposis is a very common and multifactorial disease. Whereas
eosinophil-dominated polyps often are sensitive to anti-inflammatory treatment
like corticosteroids, the therapy of polyps without eosinophils is more ... Cited by 3 - Related articles - All 12 versions
