U
Uta Francke
Researcher at Stanford University
Publications - 475
Citations - 49980
Uta Francke is an academic researcher from Stanford University. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 108, co-authored 475 publications receiving 48481 citations. Previous affiliations of Uta Francke include McGill University & University of North Carolina at Chapel Hill.
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Journal ArticleDOI
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains
K. Tynan,K Comeau,M Pearson,P Wilgenbus,D Levitt,C. Gasner,M. A. Berg,D. C. Miller,Uta Francke +8 more
TL;DR: The results suggest that most MFS families carry unique mutations and that the fibrillin genotype is not the sole determinant of the connective tissue phenotype.
Journal ArticleDOI
Chromosome mapping of the growth hormone receptor gene in man and mouse.
TL;DR: The assignment of GHR to mouse chromosome 15 suggests this as a candidate gene for the autosomal recessive mutation miniature, and is the first gene with apparently homologous loci on human chromosome 5 and mouse chromosome15, it identifies a new homologueous conserved region.
Journal ArticleDOI
Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11
TL;DR: The human cellular homolog of the transforming DNA sequence isolated from the bladder carcinoma cell line EJ was localized on the short arm of human chromosome 11 by Southern blot analysis of human-rodent hybrid cell DNA.
Journal Article
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Uta Francke,John F. Harper,Basil T. Darras,Janet M. Cowan,Edward R.B. McCabe,Alfried Kohlschütter,William K. Seltzer,Fumiko Saito,Jun Goto,Jean-Paul Harpey,Joyce E. Wise +10 more
TL;DR: Comparison of molecular studies of unrelated patients with deletions of DNA segments allows us to define the region of Xp21 (between probes J-Bir and L1.4) that most likely contains the genes for GKD and AH that is distal to the DMD locus.
Journal ArticleDOI
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
Laurence Faivre,Gwenaëlle Collod-Béroud,Anne H. Child,Bert Callewaert,Bart Loeys,Christine Binquet,Elodie Gautier,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Chantal Stheneur,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Dorothy Halliday,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,H. Plauchu,Peter N. Robinson,Lesley C. Adès,J. De Backer,Paul Coucke,Uta Francke,A De Paepe,Catherine Boileau,Guillaume Jondeau +26 more
TL;DR: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected.