Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 1

Results: 16

Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 59

By:

J.Bell, Callum;
L.Budarf, Marcia;
W.Nieuwenhuijsen, Bart;
L.Barnoski, Barry;
H.Buetow, Kenneth;
Campbell, Keely;
M.E.Colbert, Angela;
Collins, Joelle;
Daly, Mark;
R.Desjardins, Philippe;
DeZwaan, Todd;
Eckman, Barbara;
Foote, Simon;
Hart, Kyle;
Hiester, Kevin;
Hoog, Marius J.Van Het;
Hopper, Elizabeth;
Kaufman, Alan;
E.McDermid, Heather;
Overton, G.Christian

Publication type:

Article

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 51

By:

Igor VoŘechovskýIgor VoŘechovský;
Vihinen, Mauno;
de Saint Basile, Geneviève;
Honsov´, Stanislava;
Hammarström, Lennart;
Müller, Susanne;
Nilsson, Lennart;
Fischer, Alain;
Smith, C.I.Edvard

Publication type:

Article

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 45

By:

Graaff, Esther de;
Rouillard, Patricia;
J.Willems, Patrick;
P.T.Smits, Arie;
Rousseau, Francois;
A.Oostra, Ben

Publication type:

Article

Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 37

By:

Frigerio, Jean-Marc;
Berthézène, Patrice;
Garrido, Patricia;
Barthellemy, Emilia Ortiz Sandrine;
Vasseur, Sophie;
Sastre, Bernard;
Seleznieff, Igor;
Dagorn, Jean-Charles;
lovanna, Juan Lucio

Publication type:

Article

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 31

By:

Lüdecke, Hermann-Josef;
J.Wagner, Michael;
Nardmann, Judith;
Pillo, Biagio La;
E.Parrish, Julia;
J.Willems, Patrick;
A.Haan, Eric;
Frydman, Moshe;
J.H.Hamers, Guus;
E.Weils, Dan;
Horsthemke, Bernhard

Publication type:

Article

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 19

By:

Verderio, Elisabetta;
Cavadini, Patrizia;
Montermini, Laura;
Wang, Haowei;
Lamantea, Eleonora;
Finocchiaro, Gaetano;
DiDonato, Stefano;
Gellera, Cinzia;
Taroni, Franco

Publication type:

Article

Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 15

By:

Stine, O. Colin;
Li, Shi-Hua;
Pleasant, Nicole;
Wagster, Molly V.;
Hedreen, John C.;
Ross, Christopher A.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 1, p. 147
Publication type:: Article

Deficiency of lecithin: cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 143

By:

Wlebusch, Heiko;
Cullen, paul;
S.Owen, James;
Collins, David;
S.Sharp, Patrick;
Funke, Harald;
Assmann, Gerd

Publication type:

Article

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 141

By:

Brown, David M.;
Vandenburgh, Kim;
Kimura, Alan E.;
Weingeist, Thomas A.;
Sheffield, Val C.;
Stone, Edwin M.

Publication type:

Article

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 137

By:

Sainz, Jesús;
Figueroa, Karla;
E.Baser, Michael;
Mautner, Victor-F.;
Pulst, Stefan-Matthias

Publication type:

Article

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 135

By:

P.Leeflang, Esther;
Arnhelm, Norman

Publication type:

Article

Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 129

By:

M.Shanley, Susan;
Dawkins, Hugh;
J.Wainwright, Brandon;
Wicking, Carol;
Heenan, Peter;
Eldon, Michael;
Searle, Jeffrey;
Chenevlx-Trench, Georgia

Publication type:

Article

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 121

By:

F.Davles, Angela;
J.Stephens, Richard;
G.OIavesen, Mark;
Heather, Lisa;
J.Dixon, Michael;
Magee, Alex;
Flinter, Frances;
Ragoussis, Jiannis

Publication type:

Article

Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 113

By:

Thacker, John;
E.Tambini, Cathryn;
J.Simpson, Paul;
Tsui, Lap-Chee;
W.Scherer, Stephen

Publication type:

Article

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 1, p. 109

By:

Lind, Lisbet;
Sandström, Herbert;
Wahlin, Anders;
Eriksson, Mikael;
Nilsson-Sojka, Birgitta;
Sikström, Carin;
Holmgren, Gösta

Publication type:

Article