Hum. Mol. Genet. -- Table of Contents (2 [11] )

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Contents: Volume 2, Number 11   November 1993   [Index by Author]

       EDITORIALS

       Articles

       New human DNA polymorphisms submitted to the genome data base

       Author index

       Corrigendum

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EDITORIALS:

Roger S. Buxton: Yet another skin defect, Darier's disease, maps to chromosome 12q
Hum. Mol. Genet. 1993 2: 1763-1764; doi:10.1093/hmg/2.11.1763 [PDF] [Request Permissions]

Articles:

Marcela Pearce, Derek J. Blake, Jonathon M. Tinsley, Barbara C. Byth, Louise Campbell, Anthony P. Monaco, and Kay E. Davies: The utrophin and dystrophin genes share similarities in genomic structure
Hum. Mol. Genet. 1993 2: 1765-1772; doi:10.1093/hmg/2.11.1765 [Abstract] [PDF] [Request Permissions]

Jennifer Naylor, Astrid Brinke, Shella Hassock, Peter M. Green, and Francesco Giannelli: Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
Hum. Mol. Genet. 1993 2: 1773-1778; doi:10.1093/hmg/2.11.1773 [Abstract] [PDF] [Request Permissions]

Hannie Kremer, Edwin Mariman, Barto J. Otten, George W. Moll, Jr, Gerard B.A. Stoellnga, Jan Maarten Wit, Maarten Jansen, Sten L. Drop, Brigitte Faas, Hans-Hilger Ropers, and Han G. Brunner: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
Hum. Mol. Genet. 1993 2: 1779-1783; doi:10.1093/hmg/2.11.1779 [Abstract] [PDF] [Request Permissions]

Stacie K. Loftus, Sara J. Edwards, Titia Scherpbier-Heddema, Kenneth H. Buetow, John J. Wasmuth, and Michael J. Dixon: A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q
Hum. Mol. Genet. 1993 2: 1785-1792; doi:10.1093/hmg/2.11.1785 [Abstract] [PDF] [Request Permissions]

Jun Takeda, Hideki Yano, Sybil Eng, Yijun Zeng, and Graeme I. Bell: A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones
Hum. Mol. Genet. 1993 2: 1793-1798; doi:10.1093/hmg/2.11.1793 [Abstract] [PDF] [Request Permissions]

Jean-Marc Lobaccaro, Serge Lumbroso, Charles Belon, Florence Galtier-Dereure, Jacques Bringer, Thierry Lesimple, Moïse Namer, Bruno F. Cutull, Henri Pujol, and Charles Sultan: Androgen receptor gene mutation in male breast cancer
Hum. Mol. Genet. 1993 2: 1799-1802; doi:10.1093/hmg/2.11.1799 [Abstract] [PDF] [Request Permissions]

Yin Luo, Isabella Ceccherini, Barbara Pasini, Ivana Matera, M.Patrizia Bicocchi, Virginia Barone, Renata Bocclardi, Helena Kääriänen, Daniel Weber, Marcella Devoto, and Giovanni Romeo: Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
Hum. Mol. Genet. 1993 2: 1803-1808; doi:10.1093/hmg/2.11.1803 [Abstract] [PDF] [Request Permissions]

Oyewole Adeyemo, Pekka J. Kallio, Jorma J. Palvimo, Kimmo Kontula, and Oill A. Jänne: A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro
Hum. Mol. Genet. 1993 2: 1809-1812; doi:10.1093/hmg/2.11.1809 [Abstract] [PDF] [Request Permissions]

Katherine Tynan, Kim Comeau, Margaret Pearson, Petra Wilgenbus, Diana Levitt, Chervll Gasner, Mary Anne Berg, D.Craig Miller, and Uta Francke: Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains
Hum. Mol. Genet. 1993 2: 1813-1821; doi:10.1093/hmg/2.11.1813 [Abstract] [PDF] [Request Permissions]

David P. Keisell, Donald M. Black, D. Timothy Bishop, and Nigel K. Spurr: Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1
Hum. Mol. Genet. 1993 2: 1823-1828; doi:10.1093/hmg/2.11.1823 [Abstract] [PDF] [Request Permissions]

M. Karasawa, R. M. Zwacka, A. Reuter, T. Fink, C. L. Hsieh, P. Lichter, U. Francke, and H. Welher: The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization
Hum. Mol. Genet. 1993 2: 1829-1834; doi:10.1093/hmg/2.11.1829 [Abstract] [PDF] [Request Permissions]

Kristiann M. Dougherty, Deborah A. Swanson, Lawrence C. Brody, and David Valle: Expression and processing of human ornithine- ${delta}$ -aminotransferase in Saccharomyces cerevisiae
Hum. Mol. Genet. 1993 2: 1835-1840; doi:10.1093/hmg/2.11.1835 [Abstract] [PDF] [Request Permissions]

Yue Qun Chen, Mohammad A. Rafi, Gregory de Gala, and David A. Wenger: Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
Hum. Mol. Genet. 1993 2: 1841-1846; doi:10.1093/hmg/2.11.1841 [Abstract] [PDF] [Request Permissions]

Heather L. Davis, Marie-Louise Michel, and Robert G. Whalen: DNA-based immunization induces continuous secretion of hepatitis B surface antigen and high levels of circulating antibody
Hum. Mol. Genet. 1993 2: 1847-1851; doi:10.1093/hmg/2.11.1847 [Abstract] [PDF] [Request Permissions]

Dominique Well, Marie-France Portnoi, Jacquellne Levilliers, Irène Wang, Michèle Mathieu, Jean-Louis Talliemite, Murielle Meler, Bernard Boudailliez, and Christine Petit: A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
Hum. Mol. Genet. 1993 2: 1853-1856; doi:10.1093/hmg/2.11.1853 [Abstract] [PDF] [Request Permissions]

Frances L. Hu, Zen Gu, Viktor Kozich, Jan P. Kraus, Vijay Ramesh, and Vivian E. Shih: Molecular basis of cystathionine ß-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria
Hum. Mol. Genet. 1993 2: 1857-1860; doi:10.1093/hmg/2.11.1857 [Abstract] [PDF] [Request Permissions]

Ming Hong Shen, Peter S. Harper, and Meena Upadhyaya: Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels
Hum. Mol. Genet. 1993 2: 1861-1864; doi:10.1093/hmg/2.11.1861 [Abstract] [PDF] [Request Permissions]

Zdenek Sediacek, Bernhard Korn, David S. Konecki, Renate Siebenhaar, Johannes F. Coy, Petra Kioschis, and Annemarie Poustka: construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection
Hum. Mol. Genet. 1993 2: 1865-1869; doi:10.1093/hmg/2.11.1865 [Abstract] [PDF] [Request Permissions]

Susanna Bunge, Cordula Steglich, Cornelia Zuther, Michael Beck, C. Phillip Morris, Eberhard Schwinger, Albert Schinzel, John J. Hopwood, and Andreas Gal: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)
Hum. Mol. Genet. 1993 2: 1871-1875; doi:10.1093/hmg/2.11.1871 [Abstract] [PDF] [Request Permissions]

Uwe Lenk, Rita Hanke, Hannelore Thiele, and Astrid Speer: Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients
Hum. Mol. Genet. 1993 2: 1877-1881; doi:10.1093/hmg/2.11.1877 [Abstract] [PDF] [Request Permissions]

Doron Lederfein, David Yaffe, and Uri Nudel: A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene
Hum. Mol. Genet. 1993 2: 1883-1888; doi:10.1093/hmg/2.11.1883 [Abstract] [PDF] [Request Permissions]

Peter F.M.van der Ven, Gert Jansen, Toln H.M.S.M.van Kuppevelt, M.Benjamin Perryman, Mark Lupa, Patrick W. Dunne, Henk J.ter Laak, Paul H.K. Jap, Jacques H. Veerkamp, Henry F. Epstein, and Bé Wieringa: Myotonic dystrophy kinase is a component of neuromuscular junctions
Hum. Mol. Genet. 1993 2: 1889-1894; doi:10.1093/hmg/2.11.1889 [Abstract] [PDF] [Request Permissions]

Panaglotis Deloukas and Adolphaus P.G.M.van Loon: Genomic organization of the gene encoding the p65 subunit of NF-xB: multiple variants of the p65 protein may be generated by alternative splicing
Hum. Mol. Genet. 1993 2: 1895-1900; doi:10.1093/hmg/2.11.1895 [Abstract] [PDF] [Request Permissions]

Julia E. Parrish and David L. Nelson: Regional assignment of 19 X-linked ESTs
Hum. Mol. Genet. 1993 2: 1901-1905; doi:10.1093/hmg/2.11.1901 [Abstract] [PDF] [Request Permissions]

Michael R. Spelcher, Stanislas du Manoir, Evelln SchrÖck, Heidi Holtgreve-Grez, Brlgltte Schoell, Christoph Lengauer, Thomas Cremer, and Thomas Ried: Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification
Hum. Mol. Genet. 1993 2: 1907-1914; doi:10.1093/hmg/2.11.1907 [Abstract] [PDF] [Request Permissions]

Deanna M. Church, Laura T. Banks, Anne C. Rogers, Sharon L. Graw, David E. Housman, James F. Gusella, and Alan J. Buckler: Identification of human chromosome 9 specific genes using exon amplification
Hum. Mol. Genet. 1993 2: 1915-1920; doi:10.1093/hmg/2.11.1915 [Abstract] [PDF] [Request Permissions]

Graham Casey, Sarah Plummer, Gerald Hoeltge, David Scanlon, Clare Fasching, and Eric J. Stanbridge: Functional evidence for a breast cancer growth suppressor gene on chromosome 17
Hum. Mol. Genet. 1993 2: 1921-1927; doi:10.1093/hmg/2.11.1921 [Abstract] [PDF] [Request Permissions]

Briana J. Williams, Cynthia A. Ballenger, Henry E. Malter, Felicia Bishop, Michael Tucker, Theresa A. Zwingman, and Terry J. Hassold: Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes
Hum. Mol. Genet. 1993 2: 1929-1936; doi:10.1093/hmg/2.11.1929 [Abstract] [PDF] [Request Permissions]

Rumaisa Bashir, Colin S. Munro, Susan Mason, Anthea Stephenson, Jonathan L. Rees, and Tom Strachan: Localisation of a gene for Darier's disease
Hum. Mol. Genet. 1993 2: 1937-1939; doi:10.1093/hmg/2.11.1937 [PDF] [Request Permissions]

Nick Craddock, Elisabeth Dawson, susan Burge, Liz Parfitt, Becky mant, Queta Roberts, Jo Daniels, Mike Gill, Peter McGuffin, John Powell, and Mlke Owen: The gene for Darier's disease maps to chromosome 12q23–q24.1
Hum. Mol. Genet. 1993 2: 1941-1943; doi:10.1093/hmg/2.11.1941 [Abstract] [PDF] [Request Permissions]

M.Rita Passos-Bueno, Joao R. Oilvelra, Egbert Bakker, Richard D. Anderson, Sueli K. Marie, Mariz Vainzof, Steven Roberts, Kevin P. Campbell, and Mayana Zatz: Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis
Hum. Mol. Genet. 1993 2: 1945-1947; doi:10.1093/hmg/2.11.1945 [Abstract] [PDF] [Request Permissions]

Nathalie Cartier, Claude-Olivier Sarde, Anne-Marie Douar, Jean Mosser, jean-Louis Mandel, and Patrick Aubourg: Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
Hum. Mol. Genet. 1993 2: 1949-1951; doi:10.1093/hmg/2.11.1949 [Abstract] [PDF] [Request Permissions]

J.–J. Fuentes, V. Volpinl, F. Fernandez-Toral, E. Coto, and X. Estlvlll: Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families
Hum. Mol. Genet. 1993 2: 1953-1955; doi:10.1093/hmg/2.11.1953 [PDF] [Request Permissions]

Bharati Bapat, Robert Odze, Angela Mitrl, Terri Berk, Michael Ward, and Steven Gallinger: Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP)
Hum. Mol. Genet. 1993 2: 1957-1959; doi:10.1093/hmg/2.11.1957 [PDF] [Request Permissions]

Fumle Takakubo, David R. Thorburn, Hans-Henrik, and M. Dahl: A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 ${alpha}$ gene (PDHA1)
Hum. Mol. Genet. 1993 2: 1961-1962; doi:10.1093/hmg/2.11.1961 [PDF] [Request Permissions]

Sandra Strautnleks and Sue Malcolm: Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene
Hum. Mol. Genet. 1993 2: 1963-1964; doi:10.1093/hmg/2.11.1963 [PDF] [Request Permissions]

Thilo Dork, Katrin Will, Annette Demmer, and Burkhard Tummler: A donor splice mutation (405 + 1 G $->$ A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA
Hum. Mol. Genet. 1993 2: 1965-1966; doi:10.1093/hmg/2.11.1965 [PDF] [Request Permissions]

Anja Konlg, Sybille Jakubiczka, Peter Wleacker, Hans W. Schlosser, and Manfred Gessler: Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome
Hum. Mol. Genet. 1993 2: 1967-1968; doi:10.1093/hmg/2.11.1967 [PDF] [Request Permissions]

Aklra Sakal, Kelko Tadokoro, Hiroko Yanagisawa, Shigeo Nagafuchi, Noriakl Hoshikawa, Teruaki Suzukl, Takao Kohsaka, Tomoko Hasegawa, Yutaka Nakahorl, and Massao Yamada: A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys – Drash syndrome
Hum. Mol. Genet. 1993 2: 1969-1970; doi:10.1093/hmg/2.11.1969 [PDF] [Request Permissions]

Marisa A. Chen, Jeannette M. Bonlfas, Kule Matsumura, Anat Blumenfeld, and Ervin H. Epstein, Jr: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: ${delta}$ E375
Hum. Mol. Genet. 1993 2: 1971-1972; doi:10.1093/hmg/2.11.1971 [PDF] [Request Permissions]

Jack Tarleton, Renee Richle, Charles Schwarsz, Kathleen Rao, Arthur S. Aylsworth, and Ave Lachlewicz: An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
Hum. Mol. Genet. 1993 2: 1973-1974; doi:10.1093/hmg/2.11.1973 [PDF] [Request Permissions]

Roger A. Bascom, Lin Liu, Peter Humphries, Gerald A. Fishman, Jeffrey C. Murray, and Roderick R. Mcinnes: Polymorphisms and rare sequence variants at the ROM1 locus
Hum. Mol. Genet. 1993 2: 1975-1977; doi:10.1093/hmg/2.11.1975 [PDF] [Request Permissions]

Karin Schmitt, Douglas Vollrath, Simon Foote, Elizabeth M.C. Fisher, David C. Page, and Norman Amheim: Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes
Hum. Mol. Genet. 1993 2: 1978; doi:10.1093/hmg/2.11.1978 [PDF] [Request Permissions]

Masayoshi lizuka, Mitsuo Oshimura, Takao Sekiya, and Kenshi Hayashi: PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245
Hum. Mol. Genet. 1993 2: 1979; doi:10.1093/hmg/2.11.1979 [PDF] [Request Permissions]

Masayoshi lizuka, Mitsuo Oshimura, Takao Sekiya, and Kenshi Hayashi: Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560
Hum. Mol. Genet. 1993 2: 1980; doi:10.1093/hmg/2.11.1980 [PDF] [Request Permissions]

Masayoshi lizuka, Mitsuo Oshimura, Hisako Teshima, Takao Sekiya, and Kenshi Hayashi: Dinucleotide repeat polymorphism at the D19S386 locus
Hum. Mol. Genet. 1993 2: 1981; doi:10.1093/hmg/2.11.1981 [PDF] [Request Permissions]

N.K. Moschonas, G. Goulielmos, B. Lubyova, M. Manifava, P. Deloukas, A.P.G.M. Loon, and M. Kapsetaki: Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus
Hum. Mol. Genet. 1993 2: 1981; doi:10.1093/hmg/2.11.1981-a [PDF] [Request Permissions]

Z. Pang, J.R. Pardinas, J. Dermody, and H. LOzer: Dinucleotide repeat polymorphism in the INHBA gene
Hum. Mol. Genet. 1993 2: 1982; doi:10.1093/hmg/2.11.1982 [PDF] [Request Permissions]

Aruna Devi Martha, Robert E. Ferrell, and Grady F. Saunders: Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene
Hum. Mol. Genet. 1993 2: 1982; doi:10.1093/hmg/2.11.1982-a [PDF] [Request Permissions]

T.S. Seo, T. Hanabusa, S. Ohagi, D.F. Steiner, and G.I. Bell: Dinucleotide repeat polymorphism in the NEC2 gene
Hum. Mol. Genet. 1993 2: 1983; doi:10.1093/hmg/2.11.1983 [PDF] [Request Permissions]

O. lbraghimov-Beskrovnaya, V.C. Sheffield, and K.P. Campbell: Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR
Hum. Mol. Genet. 1993 2: 1983; doi:10.1093/hmg/2.11.1983-a [PDF] [Request Permissions]

Lesa Nelson, Robyn Riley, Jun Lu, Margaret Robertson, and Kenneth Ward: Tetranucleotide repeat polymorphism at the D8S306 locus
Hum. Mol. Genet. 1993 2: 1984; doi:10.1093/hmg/2.11.1984 [PDF] [Request Permissions]

E.K. BijIsma and T.J.M. Hulsebos: A Pstl polymorphism associated with CRYBA4 on human chromosome 22
Hum. Mol. Genet. 1993 2: 1984; doi:10.1093/hmg/2.11.1984-a [PDF] [Request Permissions]

New human DNA polymorphisms submitted to the genome data base:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 1985-1987; doi:10.1093/hmg/2.11.1985 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 1989; doi:10.1093/hmg/2.11.1989 [PDF] [Request Permissions]

Corrigendum:

: Corrigendum
Hum. Mol. Genet. 1993 2: 1990-1609; doi:10.1093/hmg/2.11.1990 [PDF] [Request Permissions]

Human Molecular Genetics

EDITORIALS:

Articles:

New human DNA polymorphisms submitted to the genome data base:

Author index:

Corrigendum: