Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 6

Results: 25

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1101

By:

Yulug, Isik G.;
Katsanis, Nicholas;
de Belleroche, Jacqueline;
Collinge, John;
Fisher, Elizabeth M.C.

Publication type:

Article

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1113

By:

Deng, Han-Xiang;
Tainer, John A.;
Mitsumoto, Hiroshi;
Ohnishi, Akio;
He, Xiaoxuan;
Hung, Wu-Yen;
Zhao, Yaliang;
Juneja, Tony;
Hentati, Afif;
Siddique, Teepu

Publication type:

Article

Two novel insertions in the prion protein gene in patients with lateonset dementia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1109

By:

L.Laplanche, J.;
tre, N. Delasnerie-Lauprê;
P.Brandel, J.;
Dussaucy, M.;
Chatelain, J.;
Launay, J.M.

Publication type:

Article

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1105

By:

Själander, A.;
Beckman, G.;
Deng, H.-X.;
lqbal, Z.;
Tainer, J.A.;
Siddique, T.

Publication type:

Article

Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X; 18)(p11.2;q11.2)-positive synoviaol sarcomas.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1097

By:

de Leeuw, B.;
Balemans, M.;
Weghuis, D.Olde;
van Kessel, A.Geurts

Publication type:

Article

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1095

By:

Hwu, Wuh-Liang;
Chuang, Shu-Chuan;
Tsai, Li-Ping;
Chang, Mei-Hwei;
Chuang, Sou-Ming;
Wang, Tso-Ren

Publication type:

Article

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1093

By:

Song, X.Q.;
Fukao, T.;
Suzuki, Y.;
Imamura, A.;
Uchiyama, A.;
Shimozawa, N.;
Kondo, N.;
Orii, T.

Publication type:

Article

Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1089

By:

Mousses, Spyro;
Özçelik, Hilmi;
D.Lee, Peter;
Malkin, David;
B.Bull, Shelley;
L.Andrulis, Irene

Publication type:

Article

A novel allelic variant of serum amyloic A, SAA1γ: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA– amyloidosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1083

By:

Baba, Satoshi;
Masago, Sonomi A.;
Takahashi, Toshie;
Kasama, Takeshi;
Sugimura, Haruhiko;
Tsugane, Schoichiro;
Tsutsui, Yoshihiro;
Shirasawa, Haruyuki

Publication type:

Article

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1077

By:

OIdridge, M.;
Wilkie, A.O.M.;
SIaney, S.F.;
Poole, M.D.;
Pulleyn, L.J.;
Rutland, P.;
Hockley, A.D.;
Wake, M.J.C.;
Goldin, J.H.;
Winter, R.M.;
Reardon, W.;
Malcolm, S.

Publication type:

Article

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1073

By:

Chen, Achih H.;
Ni, Li;
Fukushima, Kunihiro;
Marietta, Jacquie;
O'Neill, Marsha;
Coucke, Paul;
Willems, Patrick;
Smith, Richard J.H.

Publication type:

Article

Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1063

By:

Whiting, Elisabeth J.;
Waring, James D.;
Tamai, Katsuyuki;
Somerville, Martin J.;
Hincke, Maxwell;
Staines, William A.;
Ikeda, Joh-E;
Korneluk, Robert G.

Publication type:

Article

Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy mice.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1055

By:

Sunada, Yoshihide;
Bernier, Suzanne M.;
Utani, Atsushi;
Yamada, Yoshihiko;
Campbell, Kevin P.

Publication type:

Article

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1049

By:

Carlton, Victoria E.H.;
Knisely, A.S.;
Freimer, Nelson B.

Publication type:

Article

A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1041

By:

Horn, Jacqueline M.;
Ashworth, Alan

Publication type:

Article

Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1035

By:

Loyer, Magali;
Leclerc, Daniel;
Gravel, Roy A.

Publication type:

Article

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1027

By:

Wadey, Roy;
Daw, Sara;
Taylor, Catherine;
Atif, Uzma;
Kamath, Shalan;
Halford, Stephanie;
O‘Donnell, Hilary;
Wilson, David;
Goodship, Judith;
Burn, John;
Scambler, Peter

Publication type:

Article

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1021

By:

Kelsell, David P.;
Stevens, Howard P.;
Ratnavel, Ravi;
Bryant, Stephen P.;
Bishop, D. Timothy;
Leigh, Irene M.;
Spurr, Nigel K.

Publication type:

Article

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1015

By:

Hennies, Hans-Christian;
Küster, Wolfgang;
Mischke, Dietmar;
Reis, André

Publication type:

Article

YAC cloning Mus musculustelomeric DNA: physical, genetic, in situand STS markers for the distal telomere of chromosome 10.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1007

By:

Kipling, David;
Wilson, Helen E.;
Thomson, Eric J.;
Cooke, Howard J.

Publication type:

Article

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 1001

By:

Schöls, Ludger;
Vieira-Saecker, Ana Maria Menezes;
Schöls, Stephan;
Przuntek, Horst;
Epplen, Jörg T.;
Riess, Olaf

Publication type:

Article

Circulating human factor IX produced in keratin promoter transgenic mice: a feasibility study for gene therapy of haemophilia B.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 993

By:

Alexander, M.Y.;
Bidichandani, S.I.;
Cousins, F.M.;
Robinson, C.J.M.;
Duffie, E.;
Akhurst, R.J.

Publication type:

Article

Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 983

By:

Fippiat, Jean-Pol;
Williams, Samuel C.;
Tomlinson, Lan M.;
Cook, Graham P.;
Cherif, Dorra;
Paslier, Denis Le;
Collins, John E.;
Dunham, lan;
Winter, Greg;
Lefranc, Marie-Paule

Publication type:

Article

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 6, p. 975

By:

Heim, Ruth A.;
Kam-Morgan, Lauren N.W.;
Binnie, Cameron G.;
Corns, David D.;
Cayouette, Matthew C.;
Farber, Rosann A.;
Aylsworth, Arthur S.;
Silverman, Lawrence M.;
Luce, Michael C.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 6, p. 1117
Publication type:: Article