Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 4

Results: 46

ERRATA.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 4, p. 686
Publication type:: Article

CORRIGENDA.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 4, p. 684
Publication type:: Article

ADDITIONAL INFORMATION.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 4, p. 684
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 4, p. 683
Publication type:: Article

CA repeat polymorphism at the TCF8 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 680

By:

Wardlaw, J.C.;
Brodie, S.G.;
Seddon, H.L.;
Williams, T.M.

Publication type:

Article

BamHI RFLP for the GHRHR locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 682

By:

Cao, Y.;
Wagner, J.K.;
Eblé, A.;
Hindmarsh, P.;
Mullis, P.E.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S322 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 681

By:

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

Publication type:

Article

An intragenic Taql RFLP at the PAX5 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 681

By:

Vořechovský, I.;
Kozmík, Z.;
Hammarström, L.;
Smith, C.I.E.;
Busslinger, M.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS1683 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 680

By:

Econs, M.J.;
Francis, F.;
Rowe, P.S.N.;
Speer, M.C.;
O'Riordan, J.L.H.;
Lehrach, H.;
Becker, P.A.

Publication type:

Article

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 547

By:

Slegtenhorst, Marjon A.van;
T.Bassl, Maria;
Borsanil, Gluseppe;
Wapenaar, Martin C.;
Ferrero, Giovanni B.;
de Concillls, Lisa;
Rugarli, Elena I.;
Grillo, Alessandra;
Franco, Brunella;
Y.Zoghbl, Huda;
Ballabio, Andrea

Publication type:

Article

Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 539

By:

A.L.Bayne, Rosemary;
Broccoli, Dominique;
Taggart, Mary H.;
Thomson, Eric J.;
Farr, Christine J.;
J.Cooke, Howard

Publication type:

Article

Dinucleotide repeat polymorphism in the IL2 and IL5RA genes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 679

By:

Epplen, C.;
Frank, G.;
Gomolka, M.;
Nagy, M.;
Nūrnberg, P.;
Epplen, J.T.

Publication type:

Article

A microsatellite, D8S602, adjacent to the MSR gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 679

By:

Schmidt, L.;
Pozzatti, R.;
Li, H.;
Wei, M.H.;
Vocke, C.;
Linehan, W.M.;
Tory, K.

Publication type:

Article

A PCR method for detecting polymorphism in the TGFA gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 678

By:

Basart, A.M.;
Qian, J.F.;
May, E.;
Murray, J.C.

Publication type:

Article

Taql polymorphism in intron 2 of the GCDH gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 678

By:

Haworth, J.C.;
Singal, R.;
Goodman, S.I.;
Greenberg, C.R.

Publication type:

Article

D20S213, a microsatellite polymorphism near the D20S16 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 677

By:

Howard, T.D.;
Rothschild, C.B.;
Bowden, D.W.

Publication type:

Article

D10S681, a microsatellite polymorphism near the RET locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 677

By:

Schuster, M.K.;
Bowden, D.W.

Publication type:

Article

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 675

By:

Bénit, Paule;
Rey, Françolse;
Melle, Dominique;
Munnich, Arnold;
Rey, Jean

Publication type:

Article

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 671

By:

Coucke, Paul;
Vits, Lleve;
Camp, Guy Van;
Serville, Francoise;
Lyonnet, Stanislas;
Kenwrick, Susan;
Rosenthal, André;
Wehnert, Manfred;
Munnich, Arnold;
Willems, Patrick J.

Publication type:

Article

Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 667

By:

Davies, Joanna;
Christomanou, Helen;
Winchester, Bryan;
Malcolm, Susan

Publication type:

Article

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 663

By:

Hutter, Pierre;
E.Antonarakis, Stylianos;
Delozier-Blanchet, Célla D.;
Morris, Michael A.

Publication type:

Article

Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 661

By:

Romey, Marie-Catherine;
Desgeorges, Marie;
Malzac, Perrine;
Saries, Jacques;
Demallle, Jacques;
Claustres, Mirellle

Publication type:

Article

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 659

By:

Okano, Yoshlyuki;
Hase, Yutaka;
Shintaku, Haruo;
Arakl, Kumlko;
Furuyama, Jun-lchl;
Oura, Toshiakl;
Isshlkl, Gen

Publication type:

Article

Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 657

By:

Shoshanl, Tzipora;
Augarten, Arie;
Yahav, Jaacov;
Gazit, Ephraim;
Kerem, Batsheva

Publication type:

Article

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 655

By:

Fuchs, S.;
Xu, S.Y.;
Caballero, M.;
Salcedo, M.;
O, A.La;
Wedemann, H.;
Gal, A.

Publication type:

Article

A novel splice donor mutation affecting position + 3 in intron 6 of the factor VIII gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 651

By:

Bidichandan, Sanjay I.;
Shiach, Caroline R.;
Lanyon, W.George;
Connor, J.Michael

Publication type:

Article

Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 649

By:

Jones, Cheryl T.;
Swingler, Robert J.;
Brock, David J.H.

Publication type:

Article

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 647

By:

Bassi, Maria T.;
Bergen, Arthur A.B.;
Wapenaar, Martin C.;
Schlaffino, Maria V.;
van Schooneveld, Mary;
Yates, John R.W.;
Charles, Stephen J.;
Meltinger, Thomas;
Ballabio, Andrea

Publication type:

Article

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 643

By:

McMahon, Robert;
Mulligan, Lois M.;
Healey, Catherine S.;
Payne, Stewart J.;
Ponder, Margaret;
Ferguson-Smith, Malcolm A.;
Barton, David E.;
J.Ponder, Bruce A.

Publication type:

Article

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 639

By:

Valero, M.Carmen;
Velasco, Eladlo;
Moreno, Felipe;
Heméndez-Chico, Concepclón

Publication type:

Article

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 635

By:

Xue, Feiyu;
Yu, Hong;
Maurer, L.Herbert;
Memoll, Vincent A.;
Nutile-McMenemy, Nancy;
Schuster, Melissa K.;
Bowden, Donald W.;
Mao, Jen-I;
Noll, Walter W.

Publication type:

Article

High resolution ordering of YAC contigs using extended chromatin and chromosomes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 629

By:

Haaf, Thomas;
Ward, David C.

Publication type:

Article

Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 621

By:

Breen, Maria;
Deakln, Lisa;
Macdonald, Bernard;
Miller, Steve;
Sibson, Ross;
Tarttelln, Emma;
Avner, Philip;
Bourgade, Franck;
Guenet, Jean-Louis;
Montagutelli, Xavler;
Polrier, Christophe;
Simon, Dominique;
Tailor, Dillp;
Bishop, Martin;
Kelly, Maria;
Rysavy, Francis;
Rastan, Sohaila;
Norris, Dominic;
Shepherd, David;
Abbott, Cathy

Publication type:

Article

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 615

By:

Meljer, Henk;
de Graaff, Esther;
Merckx, Diane M.L.;
Jongbloed, Roselle J.E.;
de Die-Smulders, Christine E.M.;
Engelen, John J.M.;
Fryns, Jean-Pierre;
Curfs, Paul M.G.;
Oostra, Ben A.

Publication type:

Article

CFTR haplotype backgrounds on normal and mutant CFTR genes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 607

By:

Cuppens, Harry;
Teng, Hui;
Raeymaekers, Peter;
De Boeck, Christine;
Casslman, Jean-Jacques

Publication type:

Article

Isolation of human simple repeat loci by hybridization selection.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 599

By:

Armour, John A.L.;
Neumann, Rita;
Gobert, Stephanie;
Jeffreys, Alec J.

Publication type:

Article

Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 595

By:

Richards, Frances M.;
Crossey, Paul A.;
Phlpps, Maude E.;
Foster, Keith;
Latif, Farida;
Evans, Gareth;
Sampson, Julian;
Lerman, Michael I.;
Zbar, Berton;
Affara, Nabeel A.;
Ferguson-Smith, Malcolm A.;
Maher, Eamonn R.

Publication type:

Article

A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 589

By:

Campbell, Ian G.;
Nicolal, Hans M.;
Foulkes, William D.;
Senger, abriel;
Stamps, Gordon W.;
Allans, Gordon;
Boyer, Clnda;
Jones, Karen;
Bast, Robert C.;
Solomon, Ellen;
Trowsdale, John;
Black, Donald M.

Publication type:

Article

Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 585

By:

Weber, Angela;
J.L.Clark, Adrian

Publication type:

Article

A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 579

By:

Acsadi, Gyula;
Jani, Agnes;
Massie, Bernard;
Simoneau, Maude;
Holland, Paul;
Blaschuk, Katharine;
Karpati, George

Publication type:

Article

Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 575

By:

Sander, A.;
Schmelzle, R.;
Murray, J.

Publication type:

Article

Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 569

By:

Chartier-Hariln, Marie-Christine;
Parfitt, Matthew;
Legrain, Sylvle;
Pérez-Tur, Jordi;
Brousseau, Thierry;
Evans, Alun;
Berr, Claudine;
Vldal, Odile;
Roques, Penelope;
Gourlet, Véronique;
Fruchart, Jean-Charles;
Delacourte, André;
Rossor, Martin;
Amouyel, Philippe

Publication type:

Article

Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 565

By:

Arakawa, Hirofuml;
Hayashl, Naoko;
Nagase, Hirokl;
Ogawa, Michlo;
Nakamura, Yusuke

Publication type:

Article

The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 559

By:

Pykett, Mark J.;
Murphy, Maureen;
Harnish, Peter R.;
George, Donna L.

Publication type:

Article

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 553

By:

Tachibana, Masayoshl;
Perez-Jurado, Luis A.;
Nakayama, Atsuo;
Hodgkinson, Colin A.;
Li, Xu;
Schneider, Mark;
Miki, Toru;
Fex, Jo¨ren;
Francke, Uta;
Amheiter, Heinz

Publication type:

Article

Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 4, p. 531

By:

Webb, Julie C.;
Patel, Dilip D.;
Jones, Michael D.;
Knight, Brian L.;
Soutar, Anne K.

Publication type:

Article