Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 9

Results: 25

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1399, doi. 10.1093/hmg/7.9.1399

By:

Okumoto, Kanji;
Itoh, Ryota;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Tamura, Shigehiko;
Kondo, Naomi;
Fujiki, Yukio

Publication type:

Article

Genome-wide search for asthma susceptibility loci in a founder population.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1393, doi. 10.1093/hmg/7.9.1393

By:

Ober, Carole;
Cox, Nancy J.;
Abney, Mark;
Di Rienzo, Anna;
Lander, Eric S.;
Changyaleket, Benjarat;
Gidley, Heidi;
Kurtz, Bradley;
Lee, June;
Nance, Marcus;
Pettersson, Anna;
Prescott, Joyce;
Richardson, Anthony;
Schlenker, Evelyn;
Summerhill, Eleanor;
Willadsen, Stephanie;
Parry, Rodney

Publication type:

Article

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis ( oc) mutation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1407, doi. 10.1093/hmg/7.9.1407

By:

Heaney, Conor;
Shalev, Hana;
Elbedour, Khalil;
Carmi, Rivka;
Staack, Jeffrey B.;
Sheffield, Val C.;
Beier, David R.

Publication type:

Article

Association between uncoupling protein polymorphisms ( UCP2-UCP3) and energy metabolism/obesity in Pima Indians.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1431, doi. 10.1093/hmg/7.9.1431

By:

Walder, Ken;
Norman, Rod A.;
Hanson, Robert L.;
Schrauwen, Patrick;
Neverova, Maria;
Jenkinson, Chris P.;
Easlick, Juliet;
Warden, Craig H.;
Pecqueur, Claire;
Raimbault, Serge;
Ricquier, Daniel;
Silver, Michael Harper4, Kristi;
Shuldiner, Alan R.;
Solanes, Gemma;
Lowell, Bradford B.;
Chung, Wendy K.;
Leibel, Rudolph L.;
Pratley, Richard;
Ravussin, Eric

Publication type:

Article

Mutational analysis of the Jagged 1 gene in Alagille syndrome families.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1363, doi. 10.1093/hmg/7.9.1363

By:

Yuan, Zeng‐Rong;
Kohsaka, Takao;
Ikegaya, Takeshi;
Suzuki, Teruaki;
Okano, Sachiko;
Abe, Jun;
Kobayashi, Noboru;
Yamada, Masao

Publication type:

Article

Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1425, doi. 10.1093/hmg/7.9.1425

By:

Cooper, Gillian;
Rubinsztein, David C.;
Amos, William

Publication type:

Article

Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1379, doi. 10.1093/hmg/7.9.1379

By:

Krushkal, Julia;
Xiong, Momiao;
Ferrell, Robert;
Sing, Charles F.;
Turner, Stephen T.;
Boerwinkle, Eric

Publication type:

Article

Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1347

By:

Du, Hong;
Duanmu, Ming;
Witte, David;
Grabowski, Gregory A.

Publication type:

Article

A gene recently inactivated in human defines a new olfactory receptor family in mammals.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1337, doi. 10.1093/hmg/7.9.1337

By:

Rouquier, Sylvie;
Friedman, Cynthia;
Delettre, Cécile;
van den Engh, Ger;
Blancher, Antoine;
Crouau‐Roy, Brigitte;
Trask, Barbara J.;
Giorgi, Dominique

Publication type:

Article

Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1385, doi. 10.1093/hmg/7.9.1385

By:

Howard, Perry L.;
Dally, Ghassan Y.;
Wong, Melanie H.;
Ho, Alex;
Weleber, Richard G.;
Pillers, De‐Ann M.;
Ray, Peter N.

Publication type:

Article

Mutations in the Δ[sup 1]-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1411, doi. 10.1093/hmg/7.9.1411

By:

Geraghty, Michael T.;
Vaughn, D.;
Nicholson, A. J.;
Jimenez‐Sanchez, Wei‐Wen Lin2, Gerardo;
Obie, Cassandra;
Flynn, M. P.;
Valle, David;
Hu, Chien‐an A.

Publication type:

Article

Organization, expression and polymorphism of the human persyn gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1417, doi. 10.1093/hmg/7.9.1417

By:

Ninkina, Natalia N.;
Alimova‐Kost, Maria V.;
Paterson, James W. E.;
Delaney, Liz;
Cohen, Brian B.;
Imreh, Stefan;
Gnuchev, Nikolai V.;
Davies, Alun M.;
Buchman, Vladimir L.

Publication type:

Article

Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1437, doi. 10.1093/hmg/7.9.1437

By:

Sahly, I.;
Gogat, K.;
Kobetz, A.;
Marchant, D.;
Menasche, M.;
Castel, M.‐N.;
Revah, F.;
Dufier, J.‐L.;
Guerre‐Millo, M.;
Abitbol, M. M.

Publication type:

Article

Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1371, doi. 10.1093/hmg/7.9.1371

By:

Agulnik, Alexander I.;
Zharkikh, Andrey;
Boettger‐Tong, Holly;
Bourgeron, Thomas;
McElreavey, Ken;
Bishop, Colin E.

Publication type:

Article

Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1453, doi. 10.1093/hmg/7.9.1453

By:

Pastinen, T.;
Perola, M.;
Niini, P.;
Terwilliger, J.;
Salomaa, V.;
Vartiainen, E.;
Peltonen, L.;
Syvänen, A.‐C.

Publication type:

Article

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1517, doi. 10.1093/hmg/7.9.1517

By:

Marquardt, Andreas;
Stöhr, Heidi;
Passmore, Lori A.;
Krämer, Franziska;
Rivera, Andrea;
Weber, Bernhard H. F.

Publication type:

Article

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1475, doi. 10.1093/hmg/7.9.1475

By:

Anderson, Jane;
Burns, Helen D.;
Enriquez‐Harris, Pita;
Wilkie, Andrew O. M.;
Heath, John K.

Publication type:

Article

A cellular model that recapitulates major pathogenic steps of Huntington's disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1355, doi. 10.1093/hmg/7.9.1355

By:

Lunkes, Astrid;
Mandel, Jean‐Louis

Publication type:

Article

Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a Bicoid-like specificity and is expressed in the developing mouse brain.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1497, doi. 10.1093/hmg/7.9.1497

By:

Gottlieb, Shoshanna;
Hanes, Steven D.;
Golden, Jeffrey A.;
Oakey, Rebecca J.;
Budarf, Marcia L.

Publication type:

Article

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1491, doi. 10.1093/hmg/7.9.1491

By:

McCarthy, Eleanor M. S.;
Phillips III, John A.

Publication type:

Article

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1485, doi. 10.1093/hmg/7.9.1485

By:

Koutnikova, Hana;
Campuzano, Victoria;
Koenig, Michel

Publication type:

Article

5-HT[sub 2A] and 5-HT[sub 2C] receptor polymorphisms and psychopathology in late onset Alzheimer's disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1507, doi. 10.1093/hmg/7.9.1507

By:

Holmes, Clive;
Arranz, Maria J.;
Powell, John F.;
Collier, David A.;
Lovestone, Simon

Publication type:

Article

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1449, doi. 10.1093/hmg/7.9.1449

By:

Doray, Bérénice;
Salomon, Rémi;
Amiel, Jeanne;
Pelet, Anna;
Touraine, Renaud;
Billaud, Marc;
Attié, Tania;
Bachy, Bruno;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

Huntingtin interacts with a family of WW domain proteins.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1463, doi. 10.1093/hmg/7.9.1463

By:

Faber, Peter W.;
Barnes, Glenn T.;
Srinidhi, Jayalakshmi;
Chen, Jianmin;
Gusella, James F.;
MacDonald, Marcy E.

Publication type:

Article

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1511, doi. 10.1093/hmg/7.9.1511

By:

Lambert, Jean‐Charles;
Berr, Claudine;
Pasquier, Florence;
Delacourte, André;
Frigard, Bernard;
Cottel, Dominique;
Pérez‐Tur, Jordi;
Mouroux, Vincent;
Mohr, Michel;
Cécyre, Danielle;
Galasko, Douglas;
Lendon, Corinne;
Poirier, Judes;
Hardy, John;
Mann, David;
Amouyel, Philippe;
Chartier‐Harlin, Marie‐Christine

Publication type:

Article