Zobrazeno 1 - 10 of 20 pro vyhledávání: '"Nina S. Heiss"'
1
Gene Structure and Expression of the Mouse Dyskeratosis Congenita Gene, Dkc1
Autor: Annemarie Poustka, Dietmar Bächner, Anja Kolb, Nina S. Heiss, Rüdiger Salowsky, Petra Kioschis
Publikováno v: Genomics. 67:153-163
Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal–Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4519eee1f7fa3774826b4d2ff00bcb
https://doi.org/10.1006/geno.2000.6227
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4
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome
Autor: Arash Kimyai-Asadi, Wafaa Eyaid, Reza Yaghmai, Karoline Rostamiani, Hossein C. Nousari, Joann Bodurtha, Aida Metzenberg, Nina S. Heiss, Ada Hamosh, Annemarie Poustka
Publikováno v: The Journal of Pediatrics. 136:390-393
X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271adbeb349a2b09c4f66749042016e1
https://doi.org/10.1067/mpd.2000.104295
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5
Dyskerin Localizes to the Nucleolus and Its Mislocalization Is Unlikely to Play a Role in the Pathogenesis of Dyskeratosis Congenita
Autor: Rainer Pepperkok, Rüdiger Salowsky, Stefan Wiemann, Annemarie Poustka, Andreas Girod, Nina S. Heiss
Publikováno v: Human Molecular Genetics. 8:2515-2524
Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is pred
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5d3362b827f568f99ae1663be869f8
https://doi.org/10.1093/hmg/8.13.2515
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6
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
Autor: Inderjeet Dokal, Tom Vulliamy, C. McMahon, Stuart W. Knight, Raoul C.M. Hennekam, Annemarie Poustka, Alison Jones, Philip J. Mason, C. M. Aalfs, Peter Richmond, Nina S. Heiss
Publikováno v: British Journal of Haematology. 107:335-339
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and growth retardation. Its pathogenesis is unknown. X-linked dyskeratosis conge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4a95a2271df242721e4edc36a2dda342
https://doi.org/10.1046/j.1365-2141.1999.01690.x
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7
X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
Autor: G.S. Pai, Nina S. Heiss, Tom Vulliamy, N. Varma, Annemarie Poustka, G. Lestringant, Stuart W. Knight, Philip J. Mason, G. Stavrides, Inderjeet Dokal, S. Greschner
Publikováno v: The American Journal of Human Genetics. 65:50-58
SummaryDyskeratosis congenita is a rare inherited bone marrow–failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9bfcb64896705c026b3df5aa1b84568
https://doi.org/10.1086/302446
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8
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis
Autor: Stuart W. Knight, Inderjeet Dokal, Michele D'Urso, T J Vulliamy, Gert Matthijs, Annemarie Poustka, Nina S. Heiss, Philip J. Mason, Koenraad Devriendt, J M Connor
Publikováno v: Journal of Medical Genetics. 35:993-996
Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4930297cc5becd1c62a5c6add7afa7da
https://doi.org/10.1136/jmg.35.12.993
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9
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Autor: Stefan Wiemann, Sabine M. Klauck, Annemarie Poustka, Stuart W. Knight, Tom Vulliamy, Nina S. Heiss, Inderjeet Dokal, Philip J. Mason
Publikováno v: Nature Genetics. 19:32-38
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3' deletion in one DKC patient with a cDNA probe (derived from XAP10
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be37a326536cace5d873e39838762968
https://doi.org/10.1038/ng0598-32
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10
Genomic Structure of a Novel Chloride Channel Gene, CLIC2, in Xq28
Autor: Annemarie Poustka, Nina S. Heiss
Publikováno v: Genomics. 45:224-228
A transcript map was previously constructed in the 1200-kb telomeric region of Xq28. One of the cDNAs, XAP121, displayed homology to a p64 bovine chloride channel and to a human chloride channel (p64CLCP, NCC27) at both the nucleotide and the peptide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547f835b0883664bef56d988fbffd53c
https://doi.org/10.1006/geno.1997.4922
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