Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 2

Results: 27

Sequences flanking the centromere ofhuman chromosome 10 are a complex patchworkof arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 205, doi. 10.1093/hmg/8.2.205

By:

Jackson, M. S.;
Rocchi, M.;
Thompson, G.;
Hearn, T.;
Crosier, M.;
Guy, J.;
Kirk, D.;
Mulligan, L.;
Ricco, A.;
Piccininni, S.;
Marzella, R.;
Viggiano, L.;
Archidiacono, N.

Publication type:

Article

Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 229, doi. 10.1093/hmg/8.2.229

By:

Hemberger, Myriam;
Himmelbauer, Heinz;
Neumann, Hartmut P. H.;
Plate, Karl H.;
Schwarzkopf, Georg;
Fundele, Reinald

Publication type:

Article

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 247, doi. 10.1093/hmg/8.2.247

By:

Devuyst, Olivier;
Christie, Paul T.;
Courtoy, Pierre J.;
Beauwens, Renaud;
Thakker, Rajesh V.

Publication type:

Article

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 345, doi. 10.1093/hmg/8.2.345

By:

Serratosa, José M.;
Gómez-Garre, Pilar;
Gallardo, Ma Esther;
Anta, Berta;
Beltrán-Valero de Bernabé, Daniel;
Lindhout, Dick;
Augustijn, Paul B.;
Tassinari, Carlo A.;
Malafosse, Roberto Michelucci6, Alain;
Topcu, Meral;
Grid, Djamel;
Dravet, Charlotte;
Berkovic, Samuel F.;
Rodríguez de Córdoba, Santiago

Publication type:

Article

Thiopurine methyltransferase alleles in British and Ghanaian populations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 367, doi. 10.1093/hmg/8.2.367

By:

Ameyaw, Margaret-Mary;
Collie-Duguid, Elaina S. R.;
Powrie, Robert H.;
Ofori-Adjei, David;
McLeod, Howard L.

Publication type:

Article

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 165, doi. 10.1093/hmg/8.2.165

By:

Hanson, Isabel;
Churchill, Amanda;
Love, James;
Axton, Richard;
Moore, Tony;
Clarke, Michael;
Meire, Francoise;
van Heyningen, Veronica

Publication type:

Article

Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 307, doi. 10.1093/hmg/8.2.307

By:

Kyo, Kennoki;
Parkes, Miles;
Takei, Yoshiki;
Nishimori, Hiroyuki;
Vyas, Paulomi;
Satsangi, Jack;
Simmons, Jon;
Nagawa, Hirokazu;
Baba, Shozo;
Jewell, Derek;
Muto, Tetsuichiro;
Lathrop, G. Mark;
Nakamura, Yusuke

Publication type:

Article

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 353, doi. 10.1093/hmg/8.2.353

By:

Manilal, S.;
Sewry, C. A.;
Pereboev, A.;
Man, Nguyen thi;
Gobbi, P.;
Hawkes, S.;
Love, D. R.;
Morris, G. E.

Publication type:

Article

Sequence analysis of an 80 kb human neocentromere.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 217, doi. 10.1093/hmg/8.2.217

By:

Barry, Alyssa E.;
Howman, Emily V.;
Cancilla, Michael R.;
Saffery, Richard;
Choo, K. H. Andy

Publication type:

Article

Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 267, doi. 10.1093/hmg/8.2.267

By:

Gutmann, David H.;
Sherman, Larry;
Seftor, Liz;
Haipek, Carrie;
Hoang Lu, Kimberly;
Hendrix, Mary

Publication type:

Article

Isolation and characterization of human Patched 2(PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 291, doi. 10.1093/hmg/8.2.291

By:

Smyth, Ian;
Narang, Monica A.;
Evans, Tim;
Heimann, Cornelia;
Nakamura, Yusuke;
Chenevix-Trench, Georgia;
Pietsch, Torsten;
Wicking, Carol;
Wainwright, Brandon J.

Publication type:

Article

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 299, doi. 10.1093/hmg/8.2.299

By:

Swaroop, Anand;
Wang, Qing-Liang;
Wu, Weiping;
Cook, Jason;
Coats, Caraline;
Xu, Siqun;
Chen, Shiming;
Zack, Donald J.;
Sieving, Paul A.

Publication type:

Article

The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 323, doi. 10.1093/hmg/8.2.323

By:

Feng, Lijun;
Seymour, Albert B.;
Jiang, Shelley;
To, Agnes;
Peden, Andrew A.;
Novak, Edward K.;
Zhen, Lijie;
Rusiniak, Michael E.;
Eicher, Eva M.;
Robinson, Margaret S.;
Gorin, Michael B.;
Swank, Richard T.

Publication type:

Article

Xist RNA exhibits a banded localization on the inactive X chromosome and is excluded from autosomal material in cis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 195, doi. 10.1093/hmg/8.2.195

By:

Duthie, Sarah M.;
Nesterova, Tatyana B.;
Formstone, Emma J.;
Keohane, Ann M.;
Turner, Bryan M.;
Zakian, Suren M.;
Brockdorff, Neil

Publication type:

Article

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 313

By:

Wu, Yuan-Qing;
Heilstedt, Heidi A.;
Bedell, Joseph A.;
May, Kristin M.;
Starkey, David E.;
McPherson, John D.;
Shapira, Stuart K.;
Shaffer, Lisa G.

Publication type:

Article

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 185, doi. 10.1093/hmg/8.2.185

By:

Dahia, Patricia L. M.;
Aguiar, Ricardo C. T.;
Alberta, John;
Kum, Jennifer B.;
Caron, Stacey;
Sill, Heinz;
Marsh, Debbie J.;
Ritz, Jerome;
Freedman, Arnold;
Stiles, Charles;
Eng, Charis

Publication type:

Article

Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population:a population-based survey.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 331, doi. 10.1093/hmg/8.2.331

By:

Yamakawa-Kobayashi, Kimiko;
Yanagi, Hisako;
Fukayama, Hiromi;
Hirano, Chiaki;
Shimakura, Yae;
Yamamoto, Nao;
Arinami, Tadao;
Tsuchiya, Shigeru;
Hamaguchi, Hideo

Publication type:

Article

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 157, doi. 10.1093/hmg/8.2.157

By:

Al-Chalabi, Ammar;
Andersen, Peter M.;
Nilsson, Peter;
Chioza, Barry;
Andersson, Jörgen L.;
Russ, Carsten;
Shaw, Christopher E.;
Powell, John F.;
Leigh, P. Nigel

Publication type:

Article

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 277, doi. 10.1093/hmg/8.2.277

By:

Rinderle, Cornelia;
Christensen, Hoang-My;
Schweiger, Susann;
Lehrach, Hans;
Yaspo, Marie-Laure

Publication type:

Article

Localization of the APECED protein in distinct nuclear structures.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 259, doi. 10.1093/hmg/8.2.259

By:

Björses, Petra;
Pelto-Huikko, Markku;
Kaukonen, Jaakko;
Aaltonen, Johanna;
Peltonen, Leena;
Ulmanen, Ismo

Publication type:

Article

Analysis of germline mutation spectra at the Huntington's disease locus supports amitotic mutation mechanism.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 173, doi. 10.1093/hmg/8.2.173

By:

Leeflang, Esther P.;
Tavaré, Simon;
Marjoram, Paul;
Neal, Carolyn O. S.;
Srinidhi, Jayalakshmi;
MacDonald, Marcy E.;
de Young, Margot;
Wexler, Nancy S.;
Gusella, James F.;
Arnheim, Norman

Publication type:

Article

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 337, doi. 10.1093/hmg/8.2.337

By:

Färber, Claudia;
Dittrich, Bärbel;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361

By:

de Kok, Yvette J. M.;
Bom, Steven J. H.;
Brunt, Tibor M.;
Kemperman, Martijn H.;
van Beusekom, Ellen;
van der Velde-Visser, Saskia D.;
Robertson, Nahid G.;
Morton, Cynthia C.;
Huygen, Patrick L. M.;
Verhagen, Wim I. M.;
Brunner, Han G.;
Cremers, Cor W. R. J.;
Cremers, Frans P. M.

Publication type:

Article

Polymorphism of the thiopurine S-methyltransferase gene in African-Americans.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 371, doi. 10.1093/hmg/8.2.371

By:

Hon, Yuen Yi;
Fessing, Michael Y.;
Pui, Ching-Hon;
Relling, Mary V.;
Krynetski, Eugene Y.;
Evans, William E.

Publication type:

Article

A full genome scan for late onset Alzheimer's disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 237, doi. 10.1093/hmg/8.2.237

By:

Kehoe, Patrick;
Wavrant-De Vrieze, Fabienne;
Crook, Richard;
Wu, William S.;
Holmans, Peter;
Fenton, Iain;
Spurlock, Gillian;
Norton, Nadine;
Williams, Hywel;
Williams, Nigel;
Lovestone, Simon;
Perez-Tur, Jordi;
Hutton, Mike;
Chartier-Harlin, Marie-Christine;
Shears, Shantia;
Roehl, Kimberly;
Booth, Jeremy;
Van Voorst, Wendy;
Ramic, Dzanan;
Williams, Julie

Publication type:

Article

Repetitive conundrums of centromere structureand function.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 151, doi. 10.1093/hmg/8.2.151

By:

Eichler, Evan E.

Publication type:

Article

H4 acetylation, XIST RNA and replication timing are coincident and define X;autosome boundaries in two abnormal X chromosomes.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 377, doi. 10.1093/hmg/8.2.377

By:

Keohane, Ann M.;
Barlow, Andrew L.;
Waters, Jonathan;
Bourn, David;
Turner, Bryan M.

Publication type:

Article