Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 7

Results: 22

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1147

By:

Wöhrle, Doris;
Kennerknecht, Ingo;
Wolf, Michael;
Enders, Herbert;
Schwemmle, Sabine;
Steinbach, Peter

Publication type:

Article

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1137

By:

Takiyama, Y.;
Igasrashi, S.;
Rogaeva, E.A.;
Endo, K.;
Rogaev, E.I.;
Tanaka, H.;
Sherrington, R.;
Sanpei, K.;
Liang, Y.;
Saito, M.;
Tsuda, T.;
Takano, H.;
Ikeda, M.;
Lin, C.;
Chi, H.;
Kennedy, J. L.;
Lang, A. E.;
Wherrett, J.R.;
Segawa, M.;
Nomura, Y.

Publication type:

Article

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1119

By:

Kolluri, Rikki;
Shehabeldin, Amro;
Peacocke, Monica;
Lamhonwah, Anne-Marie;
Teichert-Kuliszewska, Krystyna;
Weissman, Sherman M.;
Siminovitch, Katherine A.

Publication type:

Article

Erratum.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
Publication type:: Article

Corrigendum.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
Publication type:: Article

Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1239

By:

Enayat, Z.E.;
Orrell, R.W.;
Claus, A.;
Ludolph, A.;
Bachus, R.;
Brockmüller, J.;
Ray-Chaudhuri, K.;
Radunovic, A.;
Shaw, C.;
Wilkinson, J.;
king, A.;
Swash, M.;
Leigh, P.N.;
Belleroche, J.de;
Powell, J.

Publication type:

Article

The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1235

By:

Schloesser, Manfred;
Hofferbert, Sigrun;
Bartz, Ute;
Lutze, Gerd;
Lämmle, Bernhard;
Engel, Wolfgang

Publication type:

Article

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1229

By:

Park, Woo-Jin;
Meyers, Gregory A.;
Li, Xiang;
Theda, Christiane;
Day, Donald;
Oriow, Seth J.;
Jones, Marilyn C.;
Jabs, Ethylin Wang

Publication type:

Article

Localisation of a gene for chondrocalcinosis to chromosome 5p.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1225

By:

Hughes, Anne E.;
McGibbon, David;
Woodward, Emma;
Dixey, Josh;
Doherty, Michael

Publication type:

Article

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1217

By:

Naylor, Jennifer A.;
Buck, David;
Green, Peter;
Williamson, Helen;
Bentley, David;
Gianneill, Francesco

Publication type:

Article

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1213

By:

Kobayashi, Hisashi;
Baumbach, Lisa;
Matise, Tara Cox;
Schiavi, Adam;
Greenberg, Frank;
Hoffman, Eric

Publication type:

Article

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1209

By:

Knappskog, Per M.;
Flatmark, Torgeir;
Mallet, Jacques;
Lūdecke, Barbara;
Bartholomé, Klaus

Publication type:

Article

Mapping of genes predisposing to idiopathic generalized epilepsy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1201

By:

Zara, Federico;
Blanchi, Amedeo;
Avanzini, Gluliano;
Donato, Stefano Di;
Castellotti, Barbara;
Patel, Pragna I.;
Pandolfo, Massimo

Publication type:

Article

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1193

By:

Talbot, C.Conover;
Avramopouls, Dimitris;
Gerken, Steven;
Chakravarti, Aravinda;
Armour, John A.;
Matsunami, Norisada;
White, Ray;
Antonarakis, Stylianos E.

Publication type:

Article

A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1187

By:

Matsuda, Miho;
Hatano, Naoya;
Ideguchi, Hiroshi;
Takahira, Hiroyuki;
Fukumaki, Yasuyuki

Publication type:

Article

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1183

By:

Koiwai, Osamu;
Nishizawa, Miwako;
Hasada, Kayo;
Aono, Sachiko;
Adachi, Yukihiko;
Mamlya, Naoto;
Sato, Hiroshi

Publication type:

Article

Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1173

By:

Schmitt, Ina;
Bächner, Dletmar;
Megow, Dirk;
Henkiein, Peter;
Hamelster, Horst;
Epplen, Jörg T.;
Riess, Olaf

Publication type:

Article

Double mutant alleles: are they rare?

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1169

By:

Savov, Alexey;
Angelicheva, Dora;
Balassopoulou, Angeliki;
Jordanova, Albena;
Noussia-Arvanltakis, S.;
Kalaydjieva, Luba

Publication type:

Article

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1163

By:

Bueno, M.Rita Passos;
Moreira, Eloísa S.;
Vainzof, Mariz;
Chamberlain, Jeffrey;
Marle, Suely K.;
Pereira, Lygia;
Akiyama, Jeanne;
Roberds, Steven L.;
Campbell, Kevin P.;
Zatz, Mayana

Publication type:

Article

A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1155

By:

kruger, Warren D.;
Cox, David R.

Publication type:

Article

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 7, p. 1127

By:

Derry, Jonathan M.J.;
Kerns, Julie A.;
Weinberg, Kenneth I.;
Ochs, Hans D.;
Volpini, Victor;
Estivill, Xavier;
Walker, Ann P.;
Francke, Uta

Publication type:

Article