Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 6

Results: 52

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1013

By:

Piersall, Linda D.;
Dietz, Harry C.;
Hall, Bryan D.;
Cadle, Ronald G.;
Pyeritz, Reed E.;
Francomano, Clair A.;
McIntosh, Iain

Publication type:

Article

A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1009

By:

Mandl, Marion;
Kadmon, Martina;
Sengteller, Marlies;
Caspari, Reiner;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

A de novo mutation of the RET proto-oncogene in a patient with MEN 2A.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1007

By:

Mulligan, Lois M.;
Eng, Charis;
Healey, Catherine S.;
Ponder, Margaret A.;
Feldman, Gerald L.;
Li, Peizhi;
Jackson, Charles E.;
Ponder, Bruce A.J.

Publication type:

Article

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005

By:

Tsujino, Seiichi;
Shanske, Sara;
Goto, Yu-ichi;
Nonaka, Ikuya;
DiMauro, Salvatore

Publication type:

Article

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1003

By:

Romey, Marie-Catherine;
Desgeorges, Marie;
Laussel, Maguelone;
Durand, Marie-France;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033
Publication type:: Article

Seven polymorphisms at the COL10A1 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1032

By:

Rash, B.;
Sweetman, W.;
Sykes, B.;
Thomas, T.;
Grant, M.;
Boot-Handford, R.;
Wallis, G.

Publication type:

Article

Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1029

By:

Chang, Y.-P.C.;
Smith, K.D.;
Dover, G.J.

Publication type:

Article

Three microsatellite polymorphisms at the recoverin locus on chromosome 17.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1028

By:

Wiechmann, A.F.;
Haro, K.C.;
Bowden, D.W.

Publication type:

Article

Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1027

By:

Schindelhauer, D.;
Achatz, H.;
Strom, T.M.;
Ross, M.;
Carvalho, M.R.S.;
Meindl, A.

Publication type:

Article

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1025

By:

Consevage, Michael W.;
Salada, Grant C.;
Baylen, Barry G.;
Ladda, Roger L.;
Rogan, Peter K.

Publication type:

Article

Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1023

By:

Hamzehloei, Tayebeh;
West, Sarah P.;
Chapman, Pam D.;
Burn, John;
Curtis, Ann

Publication type:

Article

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1021

By:

Hansen, Lise Lotte;
Horn, Nina;
Dahl, Hans-Henrik M.;
Kruse, Torben A.

Publication type:

Article

A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1019

By:

Meaney, Cathy;
Blanch, Lianne C.;
Morris, C.Phillip

Publication type:

Article

Missense mutation in the choroideremia gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1017

By:

Donnelly, P.;
Menet, H.;
Fouanon, C.;
Herbert, O.;
Moisan, J.P.;
Roux, M.G.Le;
Pascal, O.

Publication type:

Article

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1015

By:

Meyer-Kleine, Christof;
Ricker, Kenneth;
Otto, Michael;
Koch, Manuela C.

Publication type:

Article

A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1001

By:

Schaedel, Charlotta;
Kristoffersson, Ann-Charlotte;
Kornfält, Ragnhild;
Holmberg, Lars

Publication type:

Article

Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 969

By:

Iles, D.E.;
Lehmann-Horn, F.;
Scherer, S.W.;
Tsui, L.-C.;
Weghuis, D.Olde;
Suijkerbuijk, R.F.;
Heytens, L.;
Mikala, G.;
Schwartz, A.;
Ellis, F.R.;
Stewart, A.D.;
Deufel, T.;
Wieringa, B.

Publication type:

Article

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 963

By:

Nouspikel, Thierry;
Clarkson, Stuart G.

Publication type:

Article

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 959

By:

Rampazzo, Alessandra;
Nava, Andrea;
Danieli, Gian A.;
Buja, Gianfranco;
Daliento, Luciano;
Fasoli, Giuseppe;
Scognamiglio, Roldano;
Corrado, Domenico;
Thlene, Gaetano

Publication type:

Article

Two complementation groups account for most cases of inherited MHC class II deficiency.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 953

By:

Lisowska-Grospierre, Barbara;
Fondaneche, Marie-Claude;
Rols, Marie-Pierre;
Griscelli, Claude;
Fischer, Alain

Publication type:

Article

Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 947

By:

Poulton, Joanna;
Morten, Karl J.;
Weber, Katharina;
Brown, Garry K.;
Bindoff, Laurence

Publication type:

Article

Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 999

By:

Petreska, Lidija;
Kočeva, Svetlana;
Gordova-Muratovska, Aleksandra;
Nestorov, Risto;
Efremov, Georgi D.

Publication type:

Article

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 997

By:

Esteban, Jesus;
Rosen, Daniel R.;
Bowling, Allen C.;
Sapp, Peter;
McKenna-Yasek, D.;
O'Regan, Jeremiah P.;
Beal, M.Flint;
Horvitz, H.Robert;
Brown, Robert H.

Publication type:

Article

One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 995

By:

Tsukamoto, Hiroko;
Inui, Koji;
Matsuoka, Taro;
Yanagihara, Itaru;
Fukushima, Hisao;
Okada, Shintaro

Publication type:

Article

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 989

By:

Guilford, Parry;
Ayadi, Hamadi;
Blanchard, Stéphane;
Chaib, Hassan;
Paslier, Denis Le;
Weissenbach, Jean;
Drira, Mohamed;
Petit, Christine

Publication type:

Article

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 981

By:

Rosen, Daniel R.;
Bowling, Allen C.;
Patterson, David;
Usdin, Ted B.;
Sapp, Peter;
Mezey, Eva;
McKenna-Yasek, Diane;
O'Regan, Jerimiah;
Rahmani, Zohra;
Ferrante, Robert J.;
Brownstein, Michael J.;
Kowall, Neil W.;
Beal, M.Flint;
Horvitz, H.Robert;
Brown, Robert H.

Publication type:

Article

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 977

By:

Eiberg, Hans;
Kjer, Birgit;
Kjer, Poul;
Rosenberg, Thomas

Publication type:

Article

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 941

By:

Lorenz, Claudius;
Meyer-Kleine, Christof;
Steinmeyer, Klaus;
Koch, Manuela C.;
Jentsch, Thomas J.

Publication type:

Article

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 915

By:

Greenberg, Jacquie;
Goliath, Rene;
Beighton, Peter;
Ramesar, Rajkumar

Publication type:

Article

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 909

By:

Duclos, F.;
Rodius, F.;
Wrogemann, K.;
Mandel, J.-L.;
Koenig, M.

Publication type:

Article

Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 931

By:

Gosden, John;
Lawson, Diane

Publication type:

Article

TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 897

By:

Haire, Robert N.;
Ohta, Yuko;
Lewis, Janet E.;
Fu, Shu Man;
Kroisel, Peter;
Litman, Gary W.

Publication type:

Article

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 919

By:

Passos-Bueno, M.R.;
Vainzof, M.;
Marie, S.K.;
Zatz, M.

Publication type:

Article

Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 937

By:

Arai, Eiko;
Ikeuchi, Tatsuro;
Nakamura, Yusuke

Publication type:

Article

Molecular genetic analysis of the 3p — syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 903

By:

Phipps, Maude E.;
Latif, Farida;
Prowse, Amanda;
Payne, Stewart J.;
Dietz-Band, Jeanne;
Leversha, Margaret;
Affara, Nabeel A.;
Moore, Anthony T.;
Tolmie, John;
Schinzel, Albert;
Lerman, Michael I.;
Ferguson-Smith, Malcolm A.;
Maher, Eamonn R.

Publication type:

Article

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 927

By:

Rousseau, François;
Robb, Laura J.;
Rouillard, Patricia;
Kaloustian, Vazken M. Der

Publication type:

Article

Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 923

By:

Saxena, Richa;
Shaw, Gall L.;
Relling, Mary V.;
Frame, James N.;
Moir, Donald T.;
Evans, William E.;
Caporaso, Neil;
Weiffenbach, Barbara

Publication type:

Article

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 861

By:

Bunge, Susanna;
Kleijer, Wim J.;
Steglich, Cordula;
Beck, Michael;
Zuther, Cornelia;
Morris, C.Phillip;
Schwinger, Eberhard;
Hopwood, John J.;
Scott, Hamish S.;
Gal, Andreas

Publication type:

Article

Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 853

By:

Ian, M.Tomlinson;
Cook, Graham P.;
Nigel, P.Carter;
Elaswarapu, Ramnath;
Smith, Sarah;
Walter, Gerald;
Buluwela, Lakjaya;
Rabbitts, Terence H.;
Winter, Greg

Publication type:

Article

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 879

By:

Agulnik, Alexander I.;
Mitchell, Michael J.;
Mattei, Marie-Geneviève;
Borsani, Giuseppe;
Avner, Philip A.;
Lerner, Jody L.;
Bishop, Colin E.

Publication type:

Article

Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033

By:

Fairweather, N.;
Bell, C.;
Cochrane, S.;
Chelly, J.;
Wang, S.;
Mostacciuolo, M.L.;
Monaco, A.P.;
Haites, N.E.

Publication type:

Article

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 867

By:

Ogasawara, Masahito;
Matsubara, Yoichi;
Mikami, Hitoshi;
Narisawa, Kuniaki

Publication type:

Article

Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 893

By:

Buiting, Karin;
Dittrich, Bärbel;
Robinson, Wendy P.;
Guitart, Mirlam;
Abeliovich, Dvorah;
Lerer, Israela;
Horsthemke, Bernhard

Publication type:

Article

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 885

By:

Sainz, Jesús;
Huynh, Duong P.;
Figueroa, Karla;
Ragge, Nikola K.;
Baser, Michael E.;
Pulst, Stefan-Matthias

Publication type:

Article

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033

By:

Savov, A.;
Mercier, B.;
Kalaydjieva, L.;
Férec, C.

Publication type:

Article

A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 873

By:

Agulnik, Alexander I.;
Mitchell, Michael J.;
Lerner, Jody L.;
Woods, Diane R.;
Bishop, Colin E.

Publication type:

Article

DXS997 localized to intron 48 of dystrophin.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033

By:

Saad, F.A.;
Busque, C.;
Vitiello, L.;
Danieli, G.A.

Publication type:

Article

SSCP at the BTK locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1031

By:

Vořechovský, I.

Publication type:

Article

Polymorphisms in the keratin 8 gene detected by PCR.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1031

By:

McLean, W.H.I.;
Sultan, N.;
Parfitt, E.;
Lane, E.B.

Publication type:

Article