Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 5

Results: 22

Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 933, doi. 10.1093/hmg/7.5.933

By:

Brindle, N.;
Song, Y.;
Rogaeva, E.;
Premkumar, S.;
Levesque, G.;
Yu, G.;
Ikeda, M.;
Nishimura, M.;
Paterson, A.;
Sorbi, S.;
Duara, R.;
Farrer, L.;
St George‐Hyslop, P.

Publication type:

Article

mdx muscle pathology is independent of nNOS perturbation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 823, doi. 10.1093/hmg/7.5.823

By:

Crosbie, Rachelle H.;
Straub, Volker;
Yun, Hye‐Young;
Lee, Jane C.;
Rafael, Jill A.;
Chamberlain, Jeffrey S.;
Dawson, Valina L.;
Dawson, Ted M.;
Campbell, Kevin P.

Publication type:

Article

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 847, doi. 10.1093/hmg/7.5.847

By:

Ofman, Rob;
Hettema, Ewald H.;
Hogenhout, Eveline M.;
Caruso, Ubaldo;
Muijsers, Anton O.;
Wanders, Ronald J.A.

Publication type:

Article

Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer[sup ]progression and metastasis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 895, doi. 10.1093/hmg/7.5.895

By:

Karnik, Pratima;
Paris, Mark;
Williams, Bryan R. G.;
Casey, Graham;
Crowe, Joseph;
Chen, Ping

Publication type:

Article

Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3) in a family with Bethlem myopathy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 807, doi. 10.1093/hmg/7.5.807

By:

Pan, Te‐Cheng;
Zhang, Rui‐Zhu;
Pericak‐Vance, Margaret A.;
Tandan, Rup;
Fries, Timothy;
Stajich, Jeffrey M.;
Viles, Kristi;
Vance, Jeffery M.;
Chu, Mon‐Li;
Speer, Marcy C.

Publication type:

Article

No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 937, doi. 10.1093/hmg/7.5.937

By:

Singleton, Andrew B.;
Smith, Graeme;
Gibson, Alison M.;
Woodward, Rebecca;
Perry, Robert H.;
Ince, Paul G.;
Edwardson, James A.;
Morris, Christopher M.

Publication type:

Article

High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 887, doi. 10.1093/hmg/7.5.887

By:

Baumer, Alessandra;
Dutly, Fabrizio;
Balmer, Damina;
Riegel, Mariluce;
Tükel, Turgut;
Krajewska‐Walasek, Malgorzata;
Schinzel, Albert A.

Publication type:

Article

Genetic and molecular definition of complementation group D in MHC class II deficiency.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 879, doi. 10.1093/hmg/7.5.879

By:

Fondaneche, Marie‐Claude;
Villard, Jean;
Wiszniewski, Wojciech;
Jouanguy, Emmanuelle;
Etzioni, Amos;
Le Deist, Françoise;
Peijnenburg, Ad;
Casanova, Jean‐Laurent;
Reith, Walter;
Mach, Bernard;
Fischer, Alain;
Lisowska‐Grospierre, Barbara

Publication type:

Article

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 855, doi. 10.1093/hmg/7.5.855

By:

Manilal, S.;
Recan, D.;
Sewry, C. A.;
Hoeltzenbein, M.;
Llense, S.;
Leturcq, F.;
Deburgrave, N.;
Barbot, J.‐C.;
Man, Nguyen thi;
Muntoni, F.;
Wehnert, M.;
Kaplan, J.‐C.;
Morris, G. E.

Publication type:

Article

Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 831, doi. 10.1093/hmg/7.5.831

By:

Guidotti, J.‐E.;
Akli, S.;
Castelnau‐Ptakhine, L.;
Kahn, A.;
Poenaru, L.

Publication type:

Article

Caveolin-3 in muscular dystrophy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 871, doi. 10.1093/hmg/7.5.871

By:

McNally, Elizabeth M.;
de Sá Moreira, Eloisa;
Duggan, David J.;
Bönnemann, Carsten G.;
Lisanti, Michael P.;
Lidov, Hart G.W.;
Vainzof, Mariz;
Passos‐Bueno, M. Rita;
Hoffman, Eric P.;
Zatz, Mayana;
Kunkel, Louis M.

Publication type:

Article

The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 767, doi. 10.1093/hmg/7.5.767

By:

Jeffs, Aaron R.;
Benjes, Suzanne M.;
Smith, Tania L.;
Sowerby, Stephen J.;
Morris, Christine M.

Publication type:

Article

Statistical features of human exons and their flanking regions.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 919, doi. 10.1093/hmg/7.5.919

By:

Zhang, M. Q.

Publication type:

Article

Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 777

By:

Li, Shi‐Hua;
Li, Xiao‐Jiang

Publication type:

Article

Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 783, doi. 10.1093/hmg/7.5.783

By:

Cooper, Jillian K.;
Schilling, Gabriele;
Peters, Matthew F.;
Herring, William J.;
Sharp, Alan H.;
Kaminsky, Zachary;
Masone, Jamie;
Khan, Farhat A.;
Delanoy, Michael;
Borchelt, David R.;
Dawson, Valina L.;
Dawson, Ted M.;
Ross, Christopher A.

Publication type:

Article

Functional analysis of the Huntington's disease (HD) gene promoter.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 791, doi. 10.1093/hmg/7.5.791

By:

Coles, Rhian;
Caswell, Richard;
Rubinsztein, David C.

Publication type:

Article

A novel mammalian Wnt gene, WNT8B , shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 813, doi. 10.1093/hmg/7.5.813

By:

Lako, Majlinda;
Lindsay, Susan;
Bullen, Phillip;
Wilson, David I.;
Robson, Steve C.;
Strachan, Tom

Publication type:

Article

Mutations of the flavin-containing monooxygenase gene ( FMO3) cause trimethylaminuria, a defect in detoxication.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 839, doi. 10.1093/hmg/7.5.839

By:

Treacy, E. P.;
Akerman, B. R.;
Chow, L. M. L.;
Youil, R.;
Bibeau, C.;
Lin, J.;
Bruce, A. G.;
Knight, M.;
Danks, D. M.;
Cashman, J. R.;
Forrest, S. M.

Publication type:

Article

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 865, doi. 10.1093/hmg/7.5.865

By:

Chang, Susie;
Rosenberg, Marjorie J.;
Morton, Holmes;
Francomano, Clair A.;
Biesecker, Leslie G.

Publication type:

Article

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 905, doi. 10.1093/hmg/7.5.905

By:

Christodoulou, Kyproula;
Tsingis, Marios;
Stavrou, Christoforos;
Eleftheriou, Andri;
Papapavlou, Petros;
Patsalis, Philippos C.;
Ioannou, Panos;
Pierides, Alkis;
Constantinou Deltas, C.

Publication type:

Article

The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 801

By:

Bar‐Sade, Revital Bruchim;
Kruglikova, Anna;
Modan, Baruch;
Gak, Eva;
Hirsh‐Yechezkel, Galit;
Theodor, Livia;
Novikov, Ilya;
Gershoni‐Baruch, Ruth;
Risel, Shulamit;
Papa, Moshe Z.;
Ben‐Baruch, Gilad;
Friedman, Eitan

Publication type:

Article

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 913, doi. 10.1093/hmg/7.5.913

By:

Holmberg, Monica;
Duyckaerts, Charles;
Dürr, Alexandra;
Cancel, Géraldine;
Gourfinkel‐An, Isabelle;
Damier, Philippe;
Faucheux, Baptiste;
Trottier, Yvon;
Hirsch, Etienne C.;
Agid, Yves;
Brice, Alexis

Publication type:

Article