Výsledky vyhledávání - "Raf, Vervoort"

Variation in Lek Attendance and Copulation Success of Independent and Satellite Male Ruffs Calidris pugnax

Publikováno v: Ardea. 107:303

In lekking male Ruffs, three genetically distinct morphs compete for copulations with the visiting females. Faeder males are female mimics, whereas Independents and Satellites show marked sexual dimorphism, including an elaborate ornamental plumage.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6f6c70aacb9cf5e281403c201e968b9
https://doi.org/10.5253/arde.v107i3.a9

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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Publikováno v: The American Journal of Human Genetics. 70:1545-1554

X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bb76e84071147ecdd645cbfd94250f
https://doi.org/10.1086/340848

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Mutations ofRPGR in X-linked retinitis pigmentosa (RP3)

Autor: Alan F. Wright, Raf Vervoort

Publikováno v: Human Mutation. 19:486-500

Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of retinal degeneration. In the majority of subjects RPGR mutations are associated with a typical ro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f540a6c66c38566fceb7debf2312e84b
https://doi.org/10.1002/humu.10057

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Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Autor: Stephen P. Daiger, Suja Hiriyanna, Stacey Fahrner, Beverly M. Yashar, Raf Vervoort, Alan J. Mears, Alan F. Wright, John R. Heckenlively, Anand Swaroop, Linn Gieser, Paul A. Sieving

Publikováno v: The American Journal of Human Genetics. 67:1000-1003

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da745b539d93e573ee094b3cb229265c
https://doi.org/10.1086/303091

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Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family

Autor: Zi-Bing, Jin, Xiao-Qiang, Liu, Asuka, Uchida, Raf, Vervoort, Kazuhiro, Morishita, Mutsuko, Hayakawa, Akira, Murakami, Naomichi, Matsumoto, Norio, Niikawa, Nobuhisa, Nao-i

Publikováno v: Molecular vision. 11

To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP).Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13cd59b545ddb90d0e6fb34c30806bfa
https://pubmed.ncbi.nlm.nih.gov/16052169

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Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

Autor: Sue Pearce-Kelling, Gregory M. Acland, Jennifer L. Johnson, Gustavo D. Aguirre, Brian Tulloch, Raf Vervoort, Wen X. Wu, Alan F. Wright, Qi Zhang

Publikováno v: Human molecular genetics. 11(9)

The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis pigmentosa, and maps to the same region in the X chromosome. Analysis of the physical map of the XLPRA and RP3 intervals shows a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e006786924bb7e1d7783fb6b06ef971
https://pubmed.ncbi.nlm.nih.gov/11978759

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Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa

Autor: Atsushi Kanai, Norio Niikawa, Mutsuko Hayakawa, Raf Vervoort, Akiko Yokoyama, Futoshi Maruiwa, Alan F. Wright, Nobuhisa Naōi, Koki Yamada

Publikováno v: American journal of medical genetics. 104(3)

We describe three new mutations in a recently identified exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1-3) with X-linked retinitis pigmentosa (XLRP). The affected males had typic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb0a8cd98e1460b36cac8df34ef8542
https://pubmed.ncbi.nlm.nih.gov/11754050

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

Autor: Maria Giuseppina Miano, Alfons Meindl, Richard Axton, Thomas Meitinger, Brian Tulloch, Alan Lennon, Raf Vervoort, Alfredo Ciccodicola, Alan C. Bird, Alan F. Wright

Publikováno v: Nature genetics
25 (2000): 462.
info:cnr-pdr/source/autori:Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF./titolo:Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa./doi:/rivista:Nature genetics (Print)/anno:2000/pagina_da:/pagina_a:462/intervallo_pagine:462/volume:25

The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10-20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa1, 2 (XLRP). The mutations predominantly affected a domain homolo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c37a71204a2a89b6e3d0225538a2365
http://www.cnr.it/prodotto/i/243407

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