Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Janine Wagenstaller"'
Autor:
Birgit Zirn, Maja Hempel, Núria Rivera-Brugués, Janine Wagenstaller, Bernd A. Neubauer, Andreas Hahn, Angelika Köhler, Tim M. Strom
Publikováno v:
American Journal of Medical Genetics Part A. :2960-2965
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc08b44416e2e15972dae7d77aef448
https://doi.org/10.1002/ajmg.a.32536
https://doi.org/10.1002/ajmg.a.32536
Autor:
Sabine Langer, Hans-Jürgen Leifheit, Maja Hempel, Janine Wagenstaller, Gaby Lederer, Jochen B. Geigl, Cornelia Daumer-Haas, Michael R. Speicher
Publikováno v:
American Journal of Medical Genetics Part A. :764-768
In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db62881e1fefbbab703c0f9d5402d806
https://doi.org/10.1002/ajmg.a.31141
https://doi.org/10.1002/ajmg.a.31141
Autor:
Denise Horn, Sebastian H. Eck, Olaf Riess, Johannes Kapeller, Anthony P. Monaco, Eva Klopocki, Connie R. Bezzina, Núria Rivera-Brugués, Janine Wagenstaller, Pablo Villavicencio-Lorini, Ute Moog, Tim M. Strom, Thomas Illig, Gudrun A. Rappold, Maja Hempel, Bettina Lorenz-Depiereux, Andre Franke, Stephanie Spranger, Eva Wohlleber, Alex J.T. Gawthrope, Jochen Rosenfeld, Michael Bonin, Wenke Seifert
Publikováno v:
Human Mutation
Human mutation, 31(11), E1851-E1860. Wiley-Liss Inc.
Human Mutation, Wiley, 2010, 31 (11), ⟨10.1002/humu.21362⟩
Human mutation, 31(11), E1851-E1860. Wiley-Liss Inc.
Human Mutation, Wiley, 2010, 31 (11), ⟨10.1002/humu.21362⟩
Mental retardation affects 2-3% of the population and shows a high heritability. Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98a7c076e8a34c1a146b11105ffb2e5
https://pubmed.ncbi.nlm.nih.gov/20848658
https://pubmed.ncbi.nlm.nih.gov/20848658
Autor:
Gaby Lederer, Thomas Meitinger, Heide Seidel, Maja Hempel, Nuria Rivera Brugués, Tim M. Strom, Andrea Weitensteiner, Janine Wagenstaller
Publikováno v:
American journal of medical genetics. Part A. (10)
The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d52a4251b9306b23cdb97381bb97a8cc
https://pubmed.ncbi.nlm.nih.gov/19676056
https://pubmed.ncbi.nlm.nih.gov/19676056
Autor:
Bettina Lorenz-Depiereux, Mustapha Amyere, Ursula Müller-Barth, Miikka Vikkula, Stephanie M Kaiser, Janine Wagenstaller, José L. Olivares, Roger S. Rittmaster, Alan H Shlossberg, Klaus Badenhoop, Tim M. Strom, Harald Jüppner, César Loris, Feliciano J. Ramos, Anna Benet-Pagès, Murat Bastepe, Francis H. Glorieux
Publikováno v:
Nature Genetics, Vol. 38, no. 11, p. 1248-1250 (2006)
Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8747576acc94c7999b447cf86f08bfe8
https://pubmed.ncbi.nlm.nih.gov/17395654
https://pubmed.ncbi.nlm.nih.gov/17395654
Autor:
Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Gläser, Volkmar Liebscher1, Thomas Meitinger, Tim M. Strom TimStrom@gsf.de
Publikováno v:
American Journal of Human Genetics. Oct2007, Vol. 81 Issue 4, p768-779. 10p.
Autor:
Volkmar Liebscher, Stephanie Spranger, Babett Heye, Bernd Kazmierczak, Dagmar Wahl, Michaela Nathrath, Bettina Lorenz-Depiereux, Dieter Gläser, Thomas Meitinger, Janine Wagenstaller, Tim M. Strom
Publikováno v:
The American Journal of Human Genetics. (4):768-779
Whole-genome analysis using high-density single-nucleotide–polymorphism oligonucleotide arrays allows identification of microdeletions, microduplications, and uniparental disomies. We studied 67 children with unexplained mental retardation with nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef32603fdc0db12e44f4cecf8bcbe7c8