U
Ursula Friedrich
Researcher at Aarhus University
Publications - 100
Citations - 2604
Ursula Friedrich is an academic researcher from Aarhus University. The author has contributed to research in topics: Chromosomal translocation & Karyotype. The author has an hindex of 29, co-authored 100 publications receiving 2541 citations. Previous affiliations of Ursula Friedrich include Aarhus University Hospital & Aalborg Hospital.
Papers
More filters
Journal ArticleDOI
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
H.-J. Lüdecke,J. Schaper,Peter Meinecke,P. Momeni,Stephanie Groß,D. von Holtum,H. Hirche,Marc Abramowicz,Beate Albrecht,C. Apacik,H.-J. Christen,Uwe Claussen,Koenraad Devriendt,E. Fastnacht,A. Forderer,Ursula Friedrich,Timothy H.J. Goodship,M. Greiwe,Henning Hamm,Raoul C.M. Hennekam,Georg Klaus Hinkel,Maria Hoeltzenbein,Hülya Kayserili,Frank Majewski,Michèle Mathieu,R. McLeod,Alina T. Midro,Ute Moog,Toshiro Nagai,Norio Niikawa,Karen Helene Ørstavik,E. Plöchl,Cornelia S. Seitz,Joerg Schmidtke,Lisbeth Tranebjærg,Masato Tsukahara,Bärbel Wittwer,Bernhard Zabel,Gabriele Gillessen-Kaesbach,B. Horsthemke +39 more
TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.
Journal ArticleDOI
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations
Jobst Meyer,Peter Südbeck,Marika Held,Thomas Wagner,M. Lienhard Schmitz,Franca Dagna Bricarelli,Ephrem Eggermont,Ursula Friedrich,Oskar A. Haas,Albrecht Kobelt,Jules G. Leroy,Lionel Van Maldergem,Erik Michel,Beate Mitulla,Rudolf A. Pfeiffer,Albert Schinzel,Heinrich Schmidt,Gerd Scherer +17 more
TL;DR: Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance and instability of the mutant SOX9 protein as demonstrated by Western blotting.
Journal ArticleDOI
Chromosome studies in 5,049 consecutive newborn children.
TL;DR: Data from a chromosome examination of 5,049 consecutive newborn children is presented and major chromosome abnormalities were found in 43 children.
Journal ArticleDOI
Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
TL;DR: Only one of these children with small supernumerary marker chromosomes, found in a large sample of 34,910 consecutive newborns karyotyped at birth, is psychometrically retarded and has a peculiar appearance, and the origin of the marker in her case is not able to be determined.
Journal ArticleDOI
Occurrence of cancer in women with Turner syndrome.
TL;DR: A study of cancer incidence in a cohort of 597 women with Turner syndrome and a virtually complete follow-up is presented, suggesting that the risk of ovarian germ cell tumours in TS may be lower than previously estimated.