Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 5

Results: 39

CORRIGENDUM.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 5, p. 852
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 5, p. 851
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 5, p. 843
Publication type:: Article

Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 842

By:

Borwne, D.L.;
Litt, M.

Publication type:

Article

Dinucleotide repeat polymorphism at the NCAM locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 842

By:

Telatar, M.;
Concannon, P.;
Tolun, A.

Publication type:

Article

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 841

By:

Khurana, T.S.;
Engle, E.C.;
Bennett, R.R.;
Silverman, G.A.;
Seling, S.;
Bruns, G.A.P.;
Kunkel, L.M.

Publication type:

Article

Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 841

By:

Todd, S.;
Naylor, S.L.;
Drabkin, H.A.;
Gemmil, .M.

Publication type:

Article

Dinucleotide repeat polymorphism at the D3S1255 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 840

By:

Klauck, S.M.;
Whisenant, E.;
Wood, M.;
Drabkin, H.A.;
Seizinger, B.R.

Publication type:

Article

Dinucleotide repeat polymorphism at the D3S666 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 840

By:

Klauck, S.M.;
Yamakawa, K.;
Seizinger, B.R.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S640 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 839

By:

Lu, J.;
Riley, R.;
Fillmore, K.;
Ward, K.

Publication type:

Article

SSCP/SacI polymorphism in the PAX5 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 839

By:

Vorechovsky, I.;
Kurzbauer, R.;
Kozmfk, Z.;
LHammarstrfim;
Smith, C.I.E.;
Busslinger, M.

Publication type:

Article

Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 838

By:

Davies, E.;
Bonnardeaux, A.;
Lathrop, G.M.;
Corvol, P.;
Clauser, E.;
Soubrier, F.

Publication type:

Article

Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 837

By:

Li, H.;
LSchmidt;
Wei, M.-H.;
Hustad, T.;
Lerman, M.I.;
Zbar, B.;
Tory, K.

Publication type:

Article

The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 833

By:

Rovlra, Ana;
Vulliamy, Thomas J.;
Pujades, Assumpció;
Luzzatto, Lucio;
Corrons, Joan-Luis Vives

Publication type:

Article

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 831

By:

Gilbert-Dussardier, Brigitte;
Rabier, Daniel;
StrautnIeks, Sandra;
Segues, Bertrand;
Bonnefont, Jean Paul;
Munnlch, Arnold

Publication type:

Article

Ten base pair duplication in exon 38 of the NF1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 829

By:

Legius, Eric;
Hall, Bryan K.;
Wallace, Margareth R.;
Collins, Francis S.;
Glover, Thomas W.

Publication type:

Article

SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 827

By:

Lench, N.J.;
Brook, A.H.;
Winter, G.B.

Publication type:

Article

A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 825

By:

Maekawa, Masato;
Sudo, Kayoko;
Kanno, Takashi;
Takayasu, Susumu;
-L.Li, Steven S.;
Kltajima, Masato;
Matsuura, Yukio

Publication type:

Article

A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 821

By:

Choy, Francis Y.M.;
Wei, Chao;
Applegarth, Derek A.;
Yong, Siu-Li

Publication type:

Article

Detection of a premutation in Japanese myotonic dystrophy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 819

By:

Yamagata, Hidehisa;
Miki, Tetsuro;
Sakoda, Shun-lchi;
Yamanaka, Naoki;
Davies, June;
Shelbourne, Peggy;
Kubota, Ryuji;
Takenaga, Satoshl;
Nakagawa, Masanori;
Ogihara, Toshlo;
Johnson, Keith

Publication type:

Article

Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 817

By:

Sahota, Amrik;
Chen, Ju;
Boyadjiev, Simeon A.;
Gault, M.Henry;
Tischfield, Jay A.

Publication type:

Article

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 813

By:

Bourn, David;
Carter, Simon A.;
Mason, Susan;
Evans, D.Gareth R.;
Strachan, Tom

Publication type:

Article

Identification of five novel mutations in the porphobilinogen deaminase gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 809

By:

S.Mgone, Charles;
Lanyon, W.George;
R.Moore, Michael;
Louie, Gordon V.;
Connor, James M.

Publication type:

Article

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 801

By:

Ravnlk-Glavač, Metka;
Glavač, Damjan;
Dean, Michael

Publication type:

Article

Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 793

By:

Albertella, Mark R.;
Duncan Campbe, R.

Publication type:

Article

Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 787

By:

Francomano, Clalr A.;
de Luna, Rosa I. Ortiz;
Hefferon, Timothy W.;
Bellus, Gary A.;
Turner, Caria E.;
Taylor, Eugene;
Meyers, Deborah A.;
Blanton, Susan Halloran;
Murray, Jeffrey C.;
Mclntosh, lain;
Hecht, Jacqueline T.

Publication type:

Article

A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 779

By:

Stafford, A.N.;
Rider, S.H.;
Hopkin, J.M.;
Cookson, W.O.;
Monaco, A.P.

Publication type:

Article

The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 771

By:

Kvaløy, K.;
Galvagni, F.;
Brown, W.R.A.

Publication type:

Article

An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 759

By:

Nižetić, Dean;
Gellen, Lisa;
Hamvas, Renata M. J.;
Mott, Richard;
Grigorlev, Andrei;
Vatcheva, Radost;
Zehetner, Günther;
Yaspo, Marie-Laure;
Dutriaux, Annie;
Lopes, Carmela;
Delabar, Jean-M.;
Van Broeckhoven, Christine;
Potler, Marie-Claude;
Lehrach, Hans

Publication type:

Article

Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 751

By:

Bessler, M.;
Hillmen, P.;
Longo, L.;
Luzzatto, L.;
Mason, P.J.

Publication type:

Article

Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 745

By:

de Leeuw, B.;
Balemans, M.;
Weghuis, D.Olde;
Seruca, R.;
Janz, M.;
Geraghty, M.T.;
Gilgenkrantz, S.;
Ropers, H.H.;
van Kessel, A.Geurts

Publication type:

Article

Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 741

By:

G.Young, Stephen;
Bihaln, Bernard;
Flynn, Laura M.;
Sanan, David A.;
Ayrault-Jarrier, Marise;
Jacotot, Bernard

Publication type:

Article

BLOCK-based PCR markers to find gene family members in human and comparative genome analysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 735

By:

D'Esposito, Maurizlo;
Pilia, Giuseppe;
Schlessinger, David

Publication type:

Article

De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 689

By:

Larin, Zoia;
Fricker, Mark D.;
Tyler-Smith, Chris

Publication type:

Article

Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 729

By:

Heln, David W.;
Ferguson, Ronald J.;
Doll, Mark A.;
Rustan, Timothy D.;
Gray, Kevin

Publication type:

Article

A gene for hereditary multiple exostoses maps to chromosome 19p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 717

By:

Le Merrer, Marline;
Legeai-Mallet, Laurence;
Jeannin, Patricia Margaritte;
Horsthemke, Bernhard;
Schlnzel, Albert;
Plauchu, Henri;
Toutaln, Annick;
Achard, Frédéric;
Munnich, Arnold;
Maroteaux, Pierre

Publication type:

Article

A novel nuclear protein binds centromeric alpha satellite DNA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 711

By:

Gaff, C.;
du Sart, D.;
KalltsIs, P.;
lannello, R.;
Nagy, A.;
Choo, K.H.A.

Publication type:

Article

Structural analysis of α-satellite DNA and centromere proteins using extended chromatin and chromosomes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 697

By:

Haaf, Thomas;
Ward, David C.

Publication type:

Article

Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 5, p. 723

By:

Farmer, Andrew A.;
Loftus, Thomas M.;
Mills, Alea A.;
Sato, Kevin Y.;
Neill, John D.;
Tron, Thierry;
Yang, Meijia;
Trumpower, Bernard L.;
Stanbridge, Eric J.

Publication type:

Article