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Scholar Results 1 - 10 of about 19 citing Abid: Identification of novel mutations in the SEMA4A gene associated with retinal degenerative.... (0.07 sec) 

Retinitis pigmentosa


DT Hartong, EL Berson, TP Dryja - The Lancet, 2006 - Elsevier
Hereditary degenerations of the human retina are genetically heterogeneous, with
well over 100 genes implicated so far. This Seminar focuses on the subset of
diseases called retinitis pigmentosa, in which patients typically lose ...
Cited by 143 - Related articles - All 18 versions

The semaphorins


U Yazdani, JR Terman - Genome Biology, 2006 - genomebiology.com
Semaphorins are secreted, transmembrane, and GPI-linked proteins, defined by
cysteine-rich semaphorin protein domains, that have important roles in a variety
of tissues. Humans have 20 semaphorins, Drosophila has five, and two are ...
Cited by 59 - Related articles - Cached - All 5 versions

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal …


C Zhao, S Lu, X Zhou, X Zhang, K Zhao, C … - Human genetics, 2006 - Springer
Abstract Retinitis pigmentosa (RP) is a heterogeneous group of progressive
degenerative disorders of the retina with a strong genetic component. Here, we
report the clinical and genetic findings in a Chinese family in which ...
Cited by 9 - Related articles - BL Direct - All 5 versions

Hypoxia-regulated components of the U4/U6. U5 tri-small nuclear riboprotein complex: …


R Schmidt-Kastner, H Yamamoto, D Hamasaki, … - Molecular Vision, 2008 - pubmedcentral.nih.gov
High oxygen consumption and cyclical changes related to dark-adaptation are
characteristic of the outer retina. Oxygenation changes may contribute to the
selective vulnerability of the retina in retinitis pigmentosa (RP) ...
Cited by 4 - Related articles - All 7 versions

Refinement of the locus for autosomal recessive cone–rod dystrophy (CORD8) linked to …


M Ismail, A Abid, K Anwar, S Qasim Mehdi, S … - Journal of Human Genetics, 2006 - Springer
Abstract Cone–rod retinal dystrophy (CORD) characteristically leads to early
impairment of vision due to the simultaneous involvement of both cone and rod
photoreceptor cells. Several loci/genes have been identified for CORD, ...
Cited by 4 - Related articles - BL Direct - All 6 versions

The early developmental gene Semaphorin 5c contributes to olfactory behavior in adult …

- genetics.org
SM Rollmann, A Yamamoto, T Goossens, L … - Genetics, 2007 - Genetics Soc America
Behaviors are complex traits influenced by multiple pleiotropic genes.
Understanding the mechanisms that give rise to complex behaviors requires an
understanding of how variation in transcriptional regulation shapes nervous ...
Cited by 3 - Related articles - BL Direct - All 11 versions

Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With …


JH Fingert, K Oh, M Chung, TE Scheetz, JL … - Archives of Ophthalmology, 2008 - Am Med Assoc
Results Nineteen family members had a mild form of RP. Multipoint linkage
analysis of single-nucleotide polymorphism genotypes yielded a maximum
nonparametric linkage score of 19.97 with markers located on chromosome ...
Cited by 1 - Related articles - All 4 versions

[PDF] Genetic Mapping of Retinal Degenerations in Northern Sweden


L Köhn - umu.diva-portal.org
New series no 1305 ISSN 0346-6612 ISBN 978-91-7264-887-6 Cover by Andreas J
Photography AB Printed by Print & Media, Umeå, 2009 ... “There is one thing
even more vital to science than intelligent methods; and that is, the ...
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[PDF] Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease


R Jalkanen, 2008 - oa.doria.fi
To be presented, with the permission of the Faculty of Medicine of the
University of Helsinki, for public examination in lecture hall 3, Biomedicum
Helsinki, Haartmaninkatu 8, Helsinki on the 24 th of April 2008, at 12 noon.
Related articles - View as HTML - All 3 versions

Genetic variation in South Asia: assessing the influences of geography, language and …


Q Ayub, C Tyler-Smith - Briefings in Functional Genomics and Proteomics, 2009 - Oxford Univ Press
South Asia is home to more than 1.5 billion humans representing many diverse
ethnicities, linguistic and religious groups and representing almost one-quarter
of humanity. Modern humans arrived here soon after their departure from ...
Related articles - All 3 versions


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