J
J. Wirth
Researcher at Max Planck Society
Publications - 31
Citations - 2384
J. Wirth is an academic researcher from Max Planck Society. The author has contributed to research in topics: Karyotype & Gene. The author has an hindex of 17, co-authored 31 publications receiving 2317 citations. Previous affiliations of J. Wirth include Wageningen University and Research Centre & University of Copenhagen.
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Journal ArticleDOI
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
Thomas Wagner,J. Wirth,Jobst Meyer,Bernhard Zabel,Marika Held,J. Zimmer,Juan J. Pasantes,Juan J. Pasantes,Franca Dagna Bricarelli,Jürgen Keutel,Elisabeth Hustert,Ulrich Wolf,Niels Tommerup,Werner Schempp,Gerd Scherer +14 more
TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.
Journal ArticleDOI
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
J. Wirth,Hans Gerd Nothwang,S.M. van der Maarel,Corinna Menzel,G. Borck,Isidora Lopez-Pajares,Karen Brøndum-Nielsen,Niels Tommerup,Merete Bugge,H.H. Ropers,Thomas Haaf +10 more
TL;DR: A systematic search for YACs spanning translocation breakpoints in DBCRs found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype.
Journal ArticleDOI
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
J. Wirth,Thomas Wagner,Jobst Meyer,Rudolf A. Pfeiffer,Hans-Ulrich Tietze,Werner Schempp,Gerd Scherer +6 more
TL;DR: By using a SOX9 coding sequence polymorphism, expression of bothSOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
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Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud.
Xavier Caubit,Rajikala Thangarajah,Thomas Theil,J. Wirth,Hans Gerd Nothwang,Ulrich Rüther,Stefan Krauss +6 more
TL;DR: FISH analysis reveals that human DAC maps to chromosome 13q22.3–23 and further fine‐mapping defined a position of the DAC gene at 54cM or 13q21.1, a locus that associates with mental retardation and skeletal abnormalities.
Journal ArticleDOI
A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15
J. Wirth,Elke Back,Alexander Hüttenhofer,Hans Gerd Nothwang,Christina Lich,Stephanie Groß,Corinna Menzel,Albert Schinzel,Petra Kioschis,Niels Tommerup,Hans-Hilger Ropers,B. Horsthemke,Karin Buiting +12 more
TL;DR: The cytogenetic and molecular characterization of a de novo balanced reciprocal translocation t(X;15)(q28;q12) in a female patient with atypical PWS and the data suggest that lack of expression of these sequences contributes to the PWS phenotype.