Uta Francke
Uta Francke
Professor of Genetics, Stanford University
Verified email at
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
RE Amir, IB Van den Veyver, M Wan, CQ Tran, U Francke, HY Zoghbi
Nature genetics 23 (2), 185-188, 1999
Tyrosine Kinase Receptor with Extensive Homology to EGF Receptor Shares Chromosomal Location with neu Oncogene
L Coussens, TL Yang-Feng, YC Liao, E Chen, A Gray, J McGrath, ...
Science 230 (4730), 1132-1139, 1985
Human proto‐oncogene c‐kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.
Y Yarden, WJ Kuang, T Yang‐Feng, L Coussens, S Munemitsu, TJ Dull, ...
The EMBO journal 6 (11), 3341-3351, 1987
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors
Y Yarden, JA Escobedo, WJ Kuang, TL Yang-Feng, TO Daniel, ...
Nature 323 (6085), 226-232, 1986
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways
L Coussens, PJ Parker, L Rhee, TL Yang-Feng, E Chen, MD Waterfield, ...
Science 233 (4766), 859-866, 1986
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
JMJ Derry, HD Ochs, U Francke
Cell 78 (4), 635-644, 1994
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ...
American journal of human genetics 45 (4), 498, 1989
Wiskott–Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
M Symons, JMJ Derry, B Karlak, S Jiang, V Lemahieu, F McCormick, ...
Cell 84 (5), 723-734, 1996
Cloning, Sequencing, and Expression of the Gene Coding for the Human Platelet α2-Adrenergic Receptor
BK Kobilka, H Matsui, TS Kobilka, TL Yang-Feng, U Francke, MG Caron, ...
Science 238 (4827), 650-656, 1987
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
A Aruffo, M Farrington, D Hollenbaugh, XU Li, A Milatovich, S Nonoyama, ...
Cell 72 (2), 291-300, 1993
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the …
BK Kobilka, RA Dixon, T Frielle, HG Dohlman, MA Bolanowski, IS Sigal, ...
Proceedings of the National Academy of Sciences 84 (1), 46-50, 1987
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion
VM Riccardi, E Sujansky, AC Smith, U Francke
Pediatrics 61 (4), 604-610, 1978
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
JR Arron, MM Winslow, A Polleri, CP Chang, H Wu, X Gao, JR Neilson, ...
Nature 441 (7093), 595-600, 2006
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins
BK Kobilka, T Frielle, S Collins, T Yang-Feng, TS Kobilka, U Francke, ...
Nature 329 (6134), 75-79, 1987
The neu Gene: an erbB-Homologous Gene Distinct from and Unlinked to the Gene Encoding the EGF Receptor
AL Schechter, MC Hung, L Vaidyanathan, RA Weinberg, TL Yang-Feng, ...
Science 229 (4717), 976-978, 1985
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer
C Carmeci, DA Thompson, HZ Ring, U Francke, RJ Weigel
Genomics 45 (3), 607-617, 1997
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A
PI Patel, BB Roa, AA Welcher, R Schoener-Scott, BJ Trask, L Pentao, ...
Nature genetics 1 (3), 159-165, 1992
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
M Wan, SSJ Lee, X Zhang, I Houwink-Manville, HR Song, RE Amir, ...
The American Journal of Human Genetics 65 (6), 1520-1529, 1999
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
CB Do, JY Tung, E Dorfman, AK Kiefer, EM Drabant, U Francke, ...
PLoS genetics 7 (6), e1002141, 2011
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
U Francke, HD Ochs, B de Martinville, J Giacalone, V Lindgren, ...
American journal of human genetics 37 (2), 250, 1985
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