Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bärbel Dittrich"'
Autor:
Karin Buiting, Christina Lich, Stephanie Groß, Karl Sperling, Joachim Burger, André Reis, Bernhard Horsthemke, Bärbel Dittrich
Publikováno v:
The American Journal of Human Genetics. 61(1):88-93
SummaryAngelman syndrome (AS) is a neurogenetic disorder that appears to be caused by the loss of function of an imprinted gene expressed from maternal chromosome 15 only. Approximately 6% of patients have a paternal imprint on the maternal chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c06304a7dbeaa384d9039ed3edbb6b8
Autor:
Bernhard Horsthemke, Michael Zeschnigk, Bärbel Dittrich, Walter Doerfler, Karin Buiting, Birgit Schmitz
Publikováno v:
Human Molecular Genetics. 6:387-395
A deletion of 15q11-q13 and uniparental disomy 15 lead to Prader-Labhart-Willi syndrome (PWS) or Angelman syndrome (AS) because this region contains genes expressed exclusively from the paternal (PWS) or maternal (AS) chromosome, respectively. DNA me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f844afe103b432d6f7f979fafe69f72a
https://doi.org/10.1093/hmg/6.3.387
https://doi.org/10.1093/hmg/6.3.387
Publikováno v:
Human Mutation. 10:329-337
Genomic imprinting is an epigenetic process by which the male and the female germline of viviparous taxa confer a sex-specific mark (imprint) on certain chromosomal regions. The imprint is reset in the germline of each generation, inherited through s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7438b4637a548084b0db518e2426d9
https://doi.org/10.1002/(sici)1098-1004(1997)10:5<329::aid-humu1>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1997)10:5<329::aid-humu1>3.0.co
Autor:
Karin Buiting, Robert D. Nicholls, Jessica L. Buxton, Bernhard Horsthemke, Annemarie Poustka, Bärbel Dittrich, Shinji Saitoh, Sarah Rickard, Andreas Winterpacht, Bernhard Zabel, Bernd Korn
Publikováno v:
Nature Genetics. 14:163-170
Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100–kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::786442669108df35c59bfc0270239869
https://doi.org/10.1038/ng1096-163
https://doi.org/10.1038/ng1096-163
Autor:
Bernhard Horsthemke, Stephanie Gross, Stuart Schwartz, Robert D. Nicholls, Karin Buiting, Bärbel Dittrich, Shinji Saitoh
Publikováno v:
Nature Genetics. 9:395-400
A subset of patients with Angelman and Prader-Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DNA methylation at several loci within chromosome 15q11-13, and probably have a defect in imprinting. Using probes from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4cf9608bfe6098530c7ca839ca39de
https://doi.org/10.1038/ng0495-395
https://doi.org/10.1038/ng0495-395
Publikováno v:
Journal of Plant Physiology. 143:479-487
Summary Expression of two full-length cDNAs encoding two related isozymes of radish ( Raphanus sativus L. var. Saxa Knacker) 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR, EC 1.1.1.34) can complement mevalonate auxotrophy in a yeast mutant having bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::802529cf177be5713dbe6049ca9d200b
https://doi.org/10.1016/s0176-1617(11)81810-9
https://doi.org/10.1016/s0176-1617(11)81810-9
Autor:
Akira Kuwano, David H. Ledbetter, N. Niikawa, Shinji Saitoh, Apiwat Mutirangura, Karin Buiting, Bernhard Horsthemke, Bärbel Dittrich, A.C. Chinault, Frank Greenberg, Susan A. Ledbetter
Publikováno v:
Human Molecular Genetics. 1:417-425
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders associated with deletions of proximal 15q (q11-q13) of different parental origin. Yeast artificial chromosome (YAC) clones were isolated for 9 previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43c15592c00baf4e283bb59297dee6b
https://doi.org/10.1093/hmg/1.6.417
https://doi.org/10.1093/hmg/1.6.417
Publikováno v:
Monogen bedingte Erbkrankheiten 1 ISBN: 9783642629952
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07df933f4bcc2a5ec3771f8605c51100
https://doi.org/10.1007/978-3-642-57043-8_19
https://doi.org/10.1007/978-3-642-57043-8_19
Autor:
Christina Lich, Stephanie Groß, J.F. Harvey, I. Karen Temple, Sally Cottrell, Dvorah Abeliovich, Israela Lerer, Karin Buiting, Bernd Dworniczak, Bernhard Horsthemke, Bärbel Dittrich
Publikováno v:
American journal of human genetics. 65(6)
Methylation analysis with probe PW71 (D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome. Using this test, we have identified a 28-kb deletion spanning D15S63 in five independent famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0029a810f1a2ab0b57156de0b214e1d
https://pubmed.ncbi.nlm.nih.gov/10577912
https://pubmed.ncbi.nlm.nih.gov/10577912
Publikováno v:
Human molecular genetics. 8(2)
Imprinting of the Prader-Willi/Angelman syndrome region on human chromosome 15 is regulated by an imprinting centre (IC), which spans 5' exons of the gene encoding the small nuclear ribonucleoprotein N ( SNRPN ). The IC/ SNRPN transcripts are initiat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6b995d5f26d4a890e2e390673e9cf0
https://pubmed.ncbi.nlm.nih.gov/9931342
https://pubmed.ncbi.nlm.nih.gov/9931342