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Results: 1-14 |
Results: 14
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene
Authors: Darras, Basil T. Francke, Uta
Citation: T. Darras, Basil et Francke, Uta, Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene, American journal of human genetics , 43-I(2), 1988, pp. 126-130
Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes
Authors: Schrijver, Iris Liu, Wanguo Odom, Raanan Brenn, Thomas Oefner, Peter Furthmayr, Heinz Francke, Uta
Citation: Schrijver, Iris et al., Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes, American journal of human genetics , 71(2), 2002, pp. 223-237
Assignment of human genes for phosphorylase kinase subunits a (PHKA) to XqI2-q13 and B (PHKB) to 16qI2-q13
Authors: Francke, Uta Darras, Basil T. Zander, Norbert F. Kilimann, Manfred K.
Citation: Francke, Uta et al., Assignment of human genes for phosphorylase kinase subunits a (PHKA) to XqI2-q13 and B (PHKB) to 16qI2-q13, American journal of human genetics , 45-I(2), 1989, pp. 276-282
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
Authors: Spritz, Richard A. Strunk, Kathleen M. Hsieh, Chih-Lin Sekhon, Gurbax S. Francke, Uta
Citation: A. Spritz, Richard et al., Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism., American journal of human genetics , 48-I(2), 1991, pp. 318-324
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
Authors: Francke, Uta Hsieh, Chih-Lin Foellmer, Brigitte E. Lomax, Karen J. Malech, Harry L. Leto, Thomas L.
Citation: Francke, Uta et al., Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)., American journal of human genetics , 47-I(3), 1990, pp. 483-492
Regional assignment of six polymorphic DNA sequences on chromosome 21 by In situ hybridization to normal and rearranged chromosomes
Authors: Münke, Maximilian Foellmer, Brigitte Watkins, Paul C. Cowan, Janet M. Carroll, Andrew J. Gusella, James F. Francke, Uta
Citation: Münke, Maximilian et al., Regional assignment of six polymorphic DNA sequences on chromosome 21 by In situ hybridization to normal and rearranged chromosomes, American journal of human genetics , 42(4), 1988, pp. 542-549
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17
Authors: Münke, Maximilian Kraus, Jan P. Ohura, Toshihiro Francke, Uta
Citation: Münke, Maximilian et al., The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17, American journal of human genetics , 42(4), 1988, pp. 550-564
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
Authors: Ozçelik, Tayfun Lafreniere, Ronald G. Archer, Branch T. Johnston, Patricia A. Willard, Huntington F. Francke, Uta Südhof, Thomas C.
Citation: Ozçelik, Tayfun et al., Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse., American journal of human genetics , 47-I(3), 1990, pp. 551-561
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin CDNA
Authors: Darras, Basil T. Francke, Uta
Citation: T. Darras, Basil et Francke, Uta, Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin CDNA, American journal of human genetics , 43-II(5), 1988, pp. 612-619
Intragenic deletions in 21 duchenne muscular dystrophy (DMD)/becker muscular dystrophy (BMD) families studied with the dystrophin DNA: location of breakpoints on hindill and bill exon-containing fragment maps, meiotic and mitotic origin of the mutations
Authors: Darras, Basil T. Blattner, Peggy Harper, John F. Spiro, Alfred J. Alter, Sheldon Francke, Uta
Citation: T. Darras, Basil et al., Intragenic deletions in 21 duchenne muscular dystrophy (DMD)/becker muscular dystrophy (BMD) families studied with the dystrophin DNA: location of breakpoints on hindill and bill exon-containing fragment maps, meiotic and mitotic origin of the mutations, American journal of human genetics , 43-II(5), 1988, pp. 620-629
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.
Authors: Giacalone, Joseph P. Francke, Uta
Citation: P. Giacalone, Joseph et Francke, Uta, Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion., American journal of human genetics , 50-II(4), 1992, pp. 725-741
Chromosomal localization of the gene for the huran trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyitetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase
Authors: Rozen, Rima Barton, David Du, Jing Hum, Dean W. Mackenzie, Robert E. Francke, Uta
Citation: Rozen, Rima et al., Chromosomal localization of the gene for the huran trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyitetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase, American journal of human genetics , 44(6), 1989, pp. 781-786
Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.
Authors: Lindgren, Valerie Bryke, Christine R. Ozcelik, Tayfun Yang-Feng, Teresa L. Francke, Uta
Citation: Lindgren, Valerie et al., Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis., American journal of human genetics , 50-II(5), 1992, pp. 988-997
Recombination of 4p16 DNA markers in an unusual family with Huntington disease
Authors: Pritchard, Catrin Zhu, Ning Zuo, Jian Bull, Laura Pericak-Vance, Margaret A. Vance, Jeffery M. Roses, Allen D. Milatovich, Athena Francke, Uta Cox, David R. Myers, Richard M.
Citation: Pritchard, Catrin et al., Recombination of 4p16 DNA markers in an unusual family with Huntington disease, American journal of human genetics , 50-II(6), 1992, pp. 1218-1230
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