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
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
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
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
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
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
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
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
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
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
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
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
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
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