Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 11

Results: 57

Corrigendum.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 11, p. 1990
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 11, p. 1989
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 11, p. 1985
Publication type:: Article

A Pstl polymorphism associated with CRYBA4 on human chromosome 22.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1984

By:

BijIsma, E.K.;
Hulsebos, T.J.M.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S306 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1984

By:

Nelson, Lesa;
Riley, Robyn;
Lu, Jun;
Robertson, Margaret;
Ward, Kenneth

Publication type:

Article

Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1983

By:

lbraghimov-Beskrovnaya, O.;
Sheffield, V.C.;
Campbell, K.P.

Publication type:

Article

Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1980

By:

lizuka, Masayoshi;
Oshimura, Mitsuo;
Sekiya, Takao;
Hayashi, Kenshi

Publication type:

Article

PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1979

By:

lizuka, Masayoshi;
Oshimura, Mitsuo;
Sekiya, Takao;
Hayashi, Kenshi

Publication type:

Article

Dinucleotide repeat polymorphism in the NEC2 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1983

By:

Seo, T.S.;
Hanabusa, T.;
Ohagi, S.;
Steiner, D.F.;
Bell, G.I.

Publication type:

Article

Dinucleotide repeat polymorphism in the INHBA gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1982

By:

Pang, Z.;
Pardinas, J.R.;
Dermody, J.;
LOzer, H.

Publication type:

Article

Dinucleotide repeat polymorphism at the D19S386 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1981

By:

lizuka, Masayoshi;
Oshimura, Mitsuo;
Teshima, Hisako;
Sekiya, Takao;
Hayashi, Kenshi

Publication type:

Article

Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1978

By:

Schmitt, Karin;
Vollrath, Douglas;
Foote, Simon;
Fisher, Elizabeth M.C.;
Page, David C.;
Amheim, Norman

Publication type:

Article

Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1982

By:

Martha, Aruna Devi;
Ferrell, Robert E.;
Saunders, Grady F.

Publication type:

Article

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1963

By:

Strautnleks, Sandra;
Malcolm, Sue

Publication type:

Article

Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1981

By:

Moschonas, N.K.;
Goulielmos, G.;
Lubyova, B.;
Manifava, M.;
Deloukas, P.;
Loon, A.P.G.M.;
Kapsetaki, M.

Publication type:

Article

An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1973

By:

Tarleton, Jack;
Richle, Renee;
Schwarsz, Charles;
Rao, Kathleen;
Aylsworth, Arthur S.;
Lachlewicz, Ave

Publication type:

Article

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1971

By:

Chen, Marisa A.;
Bonlfas, Jeannette M.;
Matsumura, Kule;
Blumenfeld, Anat;
Epstein, Ervin H.

Publication type:

Article

A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys – Drash syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1969

By:

Sakal, Aklra;
Tadokoro, Kelko;
Yanagisawa, Hiroko;
Nagafuchi, Shigeo;
Hoshikawa, Noriakl;
Suzukl, Teruaki;
Kohsaka, Takao;
Hasegawa, Tomoko;
Nakahorl, Yutaka;
Yamada, Massao

Publication type:

Article

Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1967

By:

Konlg, Anja;
Jakubiczka, Sybille;
Wleacker, Peter;
Schlosser, Hans W.;
Gessler, Manfred

Publication type:

Article

Polymorphisms and rare sequence variants at the ROM1 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1975

By:

Bascom, Roger A.;
Liu, Lin;
Humphries, Peter;
Fishman, Gerald A.;
Murray, Jeffrey C.;
Mcinnes, Roderick R.

Publication type:

Article

Regional assignment of 19 X-linked ESTs.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1901

By:

Parrish, Julia E.;
Nelson, David L.

Publication type:

Article

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1965

By:

Dork, Thilo;
Will, Katrin;
Demmer, Annette;
Tummler, Burkhard

Publication type:

Article

construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1865

By:

Sediacek, Zdenek;
Korn, Bernhard;
Konecki, David S.;
Siebenhaar, Renate;
Coy, Johannes F.;
Kioschis, Petra;
Poustka, Annemarie

Publication type:

Article

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1861

By:

Shen, Ming Hong;
Harper, Peter S.;
Upadhyaya, Meena

Publication type:

Article

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1877

By:

Lenk, Uwe;
Hanke, Rita;
Thiele, Hannelore;
Speer, Astrid

Publication type:

Article

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1871

By:

Bunge, Susanna;
Steglich, Cordula;
Zuther, Cornelia;
Beck, Michael;
Morris, C. Phillip;
Schwinger, Eberhard;
Schinzel, Albert;
Hopwood, John J.;
Gal, Andreas

Publication type:

Article

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1961

By:

Takakubo, Fumle;
Thorburn, David R.;
Hans-Henrik;
Dahl, M.

Publication type:

Article

Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1957

By:

Bapat, Bharati;
Odze, Robert;
Mitrl, Angela;
Berk, Terri;
Ward, Michael;
Gallinger, Steven

Publication type:

Article

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1953

By:

Fuentes, J.–J.;
Volpinl, V.;
Fernandez-Toral, F.;
Coto, E.;
Estlvlll, X.

Publication type:

Article

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1949

By:

Cartier, Nathalie;
Sarde, Claude-Olivier;
Douar, Anne-Marie;
Mosser, Jean;
Mandel, jean-Louis;
Aubourg, Patrick

Publication type:

Article

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1945

By:

Passos-Bueno, M.Rita;
Oilvelra, Joāo R.;
Bakker, Egbert;
Anderson, Richard D.;
Marie, Sueli K.;
Vainzof, Mariz;
Roberts, Steven;
Campbell, Kevin P.;
Zatz, Mayana

Publication type:

Article

The gene for Darier's disease maps to chromosome 12q23–q24.1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1941

By:

Craddock, Nick;
Dawson, Elisabeth;
Burge, susan;
Parfitt, Liz;
mant, Becky;
Roberts, Queta;
Daniels, Jo;
Gill, Mike;
McGuffin, Peter;
Powell, John;
Owen, Mlke

Publication type:

Article

Localisation of a gene for Darier's disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1937

By:

Bashir, Rumaisa;
Munro, Colin S.;
Mason, Susan;
Stephenson, Anthea;
Rees, Jonathan L.;
Strachan, Tom

Publication type:

Article

Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1929

By:

Williams, Briana J.;
Ballenger, Cynthia A.;
Malter, Henry E.;
Bishop, Felicia;
Tucker, Michael;
Zwingman, Theresa A.;
Hassold, Terry J.

Publication type:

Article

Functional evidence for a breast cancer growth suppressor gene on chromosome 17.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1921

By:

Casey, Graham;
Plummer, Sarah;
Hoeltge, Gerald;
Scanlon, David;
Fasching, Clare;
Stanbridge, Eric J.

Publication type:

Article

Identification of human chromosome 9 specific genes using exon amplification.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1915

By:

Church, Deanna M.;
Banks, Laura T.;
Rogers, Anne C.;
Graw, Sharon L.;
Housman, David E.;
Gusella, James F.;
Buckler, Alan J.

Publication type:

Article

Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1907

By:

Spelcher, Michael R.;
Manoir, Stanislas du;
SchrÖck, Evelln;
Holtgreve-Grez, Heidi;
Schoell, Brlgltte;
Lengauer, Christoph;
Cremer, Thomas;
Ried, Thomas

Publication type:

Article

Genomic organization of the gene encoding the p65 subunit of NF-xB: multiple variants of the p65 protein may be generated by alternative splicing.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1895

By:

Deloukas, Panaglotis;
Loon, Adolphaus P.G.M.van

Publication type:

Article

Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1857

By:

Hu, Frances L.;
Gu, Zen;
Kožich, Viktor;
Kraus, Jan P.;
Ramesh, Vijay;
Shih, Vivian E.

Publication type:

Article

Myotonic dystrophy kinase is a component of neuromuscular junctions.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1889

By:

Ven, Peter F.M.van der;
Jansen, Gert;
Kuppevelt, Toln H.M.S.M.van;
Perryman, M.Benjamin;
Lupa, Mark;
Dunne, Patrick W.;
Laak, Henk J.ter;
Jap, Paul H.K.;
Veerkamp, Jacques H.;
Epstein, Henry F.;
Wieringa, Bé

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1883

By:

Lederfein, Doron;
Yaffe, David;
Nudel, Uri

Publication type:

Article

Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1823

By:

Keisell, David P.;
Black, Donald M.;
Bishop, D. Timothy;
Spurr, Nigel K.

Publication type:

Article

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1813

By:

Tynan, Katherine;
Comeau, Kim;
Pearson, Margaret;
Wilgenbus, Petra;
Levitt, Diana;
Gasner, Chervll;
Berg, Mary Anne;
Miller, D.Craig;
Francke, Uta

Publication type:

Article

Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1841

By:

Chen, Yue Qun;
Rafi, Mohammad A.;
de Gala, Gregory;
Wenger, David A.

Publication type:

Article

Yet another skin defect, Darier's disease, maps to chromosome 12q.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1763

By:

Buxton, Roger S.

Publication type:

Article

Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1835

By:

Dougherty, Kristiann M.;
Swanson, Deborah A.;
Brody, Lawrence C.;
Valle, David

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1853

By:

Well, Dominique;
Portnoi, Marie-France;
Levilliers, Jacquellne;
Wang, Irène;
Mathieu, Michèle;
Talliemite, Jean-Louis;
Meler, Murielle;
Boudailliez, Bernard;
Petit, Christine

Publication type:

Article

DNA-based immunization induces continuous secretion of hepatitis B surface antigen and high levels of circulating antibody.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1847

By:

Davis, Heather L.;
Michel, Marie-Louise;
Whalen, Robert G.

Publication type:

Article

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1779

By:

Kremer, Hannie;
Mariman, Edwin;
Otten, Barto J.;
Moll, George W.;
Stoellnga, Gerard B.A.;
Wit, Jan Maarten;
Jansen, Maarten;
Drop, Sten L.;
Faas, Brigitte;
Ropers, Hans-Hilger;
Brunner, Han G.

Publication type:

Article

The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1829

By:

Karasawa, M.;
Zwacka, R. M.;
Reuter, A.;
Fink, T.;
Hsieh, C. L.;
Lichter, P.;
Francke, U.;
Welher, H.

Publication type:

Article