Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 2

Results: 21

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 171, doi. 10.1093/hmg/7.2.171

By:

Johansson, Jenni;
Forsgren, Lars;
Sandgren, Ola;
Brice, Alexis;
Holmgren, Gösta;
Holmberg, Monica

Publication type:

Article

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 209, doi. 10.1093/hmg/7.2.209

By:

Soufir, Nadem;
Avril, Marie‐Françoise;
Chompret, Agnès;
Demenais, Florence;
Bombled, Johny;
Spatz, Alain;
Stoppa‐Lyonnet, Dominique;
Study Group, the French Familial Melanoma;
Bénard, Jean;
Bressac‐de Paillerets, Brigitte

Publication type:

Article

Localization of a gene for otosclerosis to chromosome 15q25-q26.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 285, doi. 10.1093/hmg/7.2.285

By:

Tomek, Michael S.;
Brown, Matthew R.;
Mani, Sabitha R.;
Ramesh, Arabandi;
Srisailapathy, C. R. Srikumari;
Coucke, Paul;
Zbar, Ross I. S.;
Bell, Adam M.;
McGuirt, Wyman T.;
Fukushima, Kunihiro;
Willems, Patrick J.;
Van Camp, Guy;
Smith, Richard J. H.

Publication type:

Article

Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 249, doi. 10.1093/hmg/7.2.249

By:

Michalickova, Katerina;
Susic, Miki;
Willing, Marcia C.;
Wenstrup, Richard J.;
Cole, William G.

Publication type:

Article

The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 299, doi. 10.1093/hmg/7.2.299

By:

Perry, Jo;
Feather, Sally;
Smith, Alice;
Palmer, Steve;
Ashworth, Alan

Publication type:

Article

A candidate mammalian DNA methyltransferase related to pmt1p of fission yeast.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 279, doi. 10.1093/hmg/7.2.279

By:

Yoder, Jeffrey A.;
Bestor, Timothy H.

Publication type:

Article

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 239, doi. 10.1093/hmg/7.2.239

By:

Braiterman, Lelita T.;
Zheng, Siqun;
Watkins, Paul A.;
Geraghty, Michael T.;
Johnson, Gerald;
McGuinness, Martina C.;
Moser, Ann B.;
Smith, Kirby D.

Publication type:

Article

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 265, doi. 10.1093/hmg/7.2.265

By:

Jalanko, Anu;
Tenhunen, Kai;
McKinney, Cindy E.;
LaMarca, Mary E.;
Rapola, Juhani;
Autti, Taina;
Joensuu, Raimo;
Manninen, Tuula;
Sipilä, Ilkka;
Ikonen, Sami;
Riekkinen Jr, Edward I, Paavo;
Peltonen, Leena

Publication type:

Article

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 177

By:

Del‐Favero, Jurgen;
Krols, Luc;
Michalik, Andrej;
Theuns, Jessie;
Löfgren, Ann;
Goossens, Dirk;
Wehnert, Anita;
Van den Bossche, Dirk;
Van Zand, Karel;
Backhovens, Hubert;
van Regenmorter, Nicole;
Martin, Jean‐Jacques;
Van Broeckhoven, Christine

Publication type:

Article

A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 313, doi. 10.1093/hmg/7.2.313

By:

Rottier, Robbert J.;
Bonten, Erik;
d, Alessandra

Publication type:

Article

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 195, doi. 10.1093/hmg/7.2.195

By:

Thai, To Hoa;
Du, Fenghe;
Tsan, Julia Tsou;
Jin, Ying;
Phung, Anne;
Spillman, Monique A.;
Massa, Hillary F.;
Muller, Carolyn Y.;
Ashfaq, Raheela;
Mathis, J. Michael;
Miller, David S.;
Trask, Barbara J.;
Baer, Richard;
Bowcock, Anne M.

Publication type:

Article

Mutations in the canalicular multispecific organic anion transporter ( cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 203, doi. 10.1093/hmg/7.2.203

By:

Wada, Morimasa;
Toh, Satoshi;
Taniguchi, Ken;
Nakamura, Takanori;
Uchiumi, Takeshi;
Kohno, Kimitoshi;
Yoshida, Ichiro;
Kimura, Akihiko;
Sakisaka, Shotaro;
Adachi, Yukihiko;
Kuwano, Michihiko

Publication type:

Article

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 227

By:

Yamakawat,, Kazuhiro;
Huot,, Yong-Kang;
Haendelt, Melissa A.;
Hubert, René;
Chen, Xiao-Ning;
Lyons, Gary E.;
Korenberg,, Julie R.

Publication type:

Article

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 307, doi. 10.1093/hmg/7.2.307

By:

Martorell, Loreto;
Monckton, Darren G.;
Gamez, José;
Johnson, Keith J.;
Gich, Ignasi;
de Munain, Adolfo Lopez;
Baiget,, Montserrat

Publication type:

Article

HLA-DR alleles display sex-dependent effects on survival and discriminate between individual and familial longevity.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 187, doi. 10.1093/hmg/7.2.187

By:

Ivanova, Rayna;
Hénon, Nicolas;
Lepage, Virginia;
Charron, Dominique;
Vicaut, Eric;
Schächter, François

Publication type:

Article

Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 257, doi. 10.1093/hmg/7.2.257

By:

Kraft, Hans‐Georg;
Windegger, Michaela;
Menzel, Hans J.;
Utermann, Gerd

Publication type:

Article

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 273, doi. 10.1093/hmg/7.2.273

By:

Payne, Annette M.;
Downes, Susan M.;
Bessant, David A.R.;
Taylor, Rachel;
Holder, Graham E.;
Warren, Martin J.;
Bird, Alan C.;
Bhattacharya, Shomi S.

Publication type:

Article

Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 217, doi. 10.1093/hmg/7.2.217

By:

Deguen, Brigitte;
Mérel, Philippe;
Goutebroze, Laurence;
Giovannini, Marco;
Reggio, Hubert;
Arpin, Monique;
Thomas, Gilles

Publication type:

Article

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy ( SCA7 ).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 165, doi. 10.1093/hmg/7.2.165

By:

David, Gilles;
Dürr, Alexandra;
Stevanin, Giovanni;
Cancel, Géraldine;
Abbas, Nacer;
Benomar, Ali;
Belal, Samir;
Lebre, Anne‐Sophie;
Abada‐Bendib, Myriem;
Grid, Djamel;
Holmberg, Monica;
Yahyaoui, Mohamed;
Hentati, Fayçal;
Chkili, Taïeb;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Mutations in the palmitoyl-protein thioesterase gene ( PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 291, doi. 10.1093/hmg/7.2.291

By:

Mitchison, Hannah M.;
Hofmann, Sandra L.;
Becerra, Carlos H. R.;
Munroe, Patricia B.;
Lake, Brian D.;
Crow, Yanick J.;
Stephenson, John B. P.;
Williams, Ruth E.;
Hofman, Irene L.;
Taschner, Peter E. M.;
Martin, Jean‐Jacques;
Philippart, Michel;
Andermann, Eva;
Andermann, Frederick;
Mole, Sara E.;
Gardiner, R. Mark;
O, Angela M.

Publication type:

Article

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2ψ: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 157, doi. 10.1093/hmg/7.2.157

By:

Schollen, Els;
Pardon, Els;
Heykants, Leen;
Renard, Jan;
Doggett, Norman A.;
Callen, David F.;
Cassiman, Jean‐Jacques;
Matthijs, Gert

Publication type:

Article