Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 5

Results: 24

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 795, doi. 10.1093/hmg/8.5.795

By:

Jong, Michelle T. C.;
Carey, Alisoun H.;
Caldwell, Kim A.;
Lau, Michel H.;
Handel, Mary Ann;
Driscoll, Daniel J.;
Stewart, Colin L.;
Rinchik, Eugene M.;
Nicholls, Robert D.

Publication type:

Article

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 783, doi. 10.1093/hmg/8.5.783

By:

Jong, Michelle T. C.;
Gray, Todd A.;
Ji, Yonggang;
Glenn, Christopher C.;
Saitoh, Shinji;
Driscoll, Daniel J.;
Nicholls, Robert D.

Publication type:

Article

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 831, doi. 10.1093/hmg/8.5.831

By:

Guidotti, J. E.;
Mignon, A.;
Haase, G.;
Caillaud, C.;
McDonell, N.;
Kahn, A.;
Poenaru, L.

Publication type:

Article

Dysferlin is a plasma membrane protein and is expressed early in human development.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 855, doi. 10.1093/hmg/8.5.855

By:

Anderson, Louise V. B.;
Davison, Keith;
Moss, Jennifer A.;
Young, Carol;
Cullen, Michael J.;
Walsh, John;
Johnson, Margaret A.;
Bashir, Rumaisa;
Britton, Stephen;
Keers, Sharon;
Argov, Zohar;
Mahjneh, Ibrahim;
Fougerousse, Françoise;
Beckmann, Jacques S.;
Bushby, Kate M. D.

Publication type:

Article

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 839, doi. 10.1093/hmg/8.5.839

By:

Usdin, Martine T.;
Shelbourne, Peggy F.;
Myers, Richard M.;
Madison, Daniel V.

Publication type:

Article

Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 723, doi. 10.1093/hmg/8.5.723

By:

Xue, Yingzi;
Gao, Xiang;
Lindsell, Claire E.;
Norton, Christine R.;
Chang, Bo;
Hicks, Carol;
Gendron-Maguire, Maureen;
Rand, Elizabeth B.;
Weinmaster, Gerry;
Gridley, Thomas

Publication type:

Article

Zim1, a maternally expressed mouse Kruppel-type zinc-finger gene located in proximal chromosome 7.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 847, doi. 10.1093/hmg/8.5.847

By:

Kim, Joomyeong;
Lu, Xiaochen;
Stubbs, Lisa

Publication type:

Article

Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 731, doi. 10.1093/hmg/8.5.731

By:

Stenoien, David L.;
Cummings, Chris J.;
Adams, Henry P.;
Mancini, Maureen G.;
Patel, Kavita;
DeMartino, George N.;
Marcelli, Marco;
Weigel, Nancy L.;
Mancini, Michael A.

Publication type:

Article

Formation of polyglutamine inclusions in non-CNS tissue.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 813, doi. 10.1093/hmg/8.5.813

By:

Sathasivam, Kirupa;
Hobbs, Carl;
Turmaine, Mark;
Mangiarini, Laura;
Mahal, Amarbirpal;
Bertaux, Fabien;
Wanker, Erich E.;
Doherty, Pat;
Davies, Stephen W.;
Bates, Gillian P.

Publication type:

Article

Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 879, doi. 10.1093/hmg/8.5.879

By:

Tamaki, Keiji;
May, Celia A.;
Dubrova, Yuri E.;
Jeffreys, Alec J.

Publication type:

Article

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 863, doi. 10.1093/hmg/8.5.863

By:

Tamanini, Filippo;
Bontekoe, Carola;
Bakker, Cathy E.;
van Unen, Leontine;
Anar, Burcu;
Willemsen, Rob;
Yoshida, Minoru;
Galjaard, Hans;
Oostra, Ben A.;
Hoogeveen, André T.

Publication type:

Article

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 899, doi. 10.1093/hmg/8.5.899

By:

Fingert, John H.;
Héon, Elise;
Liebmann, Jeffrey M.;
Yamamoto, Tetsuya;
Craig, Jamie E.;
Rait, Julian;
Kawase, Kazuhide;
Hoh, Sek-Tien;
Buys, Yvonne M.;
Dickinson, Joanne;
Hockey, Robin R.;
Williams-Lyn, Donna;
Trope, Graham;
Kitazawa, Yoshiaki;
Ritch, Robert;
Mackey, David A.;
Alward, Wallace L. M.;
Sheffield, Val C.;
Stone, Edwin M.

Publication type:

Article

Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 889, doi. 10.1093/hmg/8.5.889

By:

Janezic, Susan A.;
Ziogas, Argyrios;
Krumroy, Lisa M.;
Krasner, Meagan;
Plummer, Sarah J.;
Cohen, Patricia;
Gildea, Maureen;
Barker, David;
Haile, Robert;
Casey, Graham;
Anton-Culver, Hoda

Publication type:

Article

DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 915, doi. 10.1093/hmg/8.5.915

By:

Fisher, Paul J.;
Turic, Dragana;
Williams, Nigel M.;
McGuffin, Peter;
Asherson, Philip;
Ball, David;
Craig, Ian;
Eley, Thalia;
Hill, Linzy;
Chorney, Karen;
Chorney, Michael J.;
Benbow, Camilla P.;
Lubinski, Robert Plomin, David;
Owen, Michael J.

Publication type:

Article

Genome-wide scan for autism susceptibility genes.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 805

By:

Philippe, Anne;
Martinez, Maria;
Guilloud-Bataille, Michel;
Gillberg, Christopher;
Råstam, Maria;
Sponheim, Eili;
Coleman, Mary;
Zappella, Michele;
Aschauer, Harald;
van Malldergerme, Lionel;
Penet, Christiane;
Feingold, Josué;
Brice,, Alexis;
Leboyer, Marion

Publication type:

Article

Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 923, doi. 10.1093/hmg/8.5.923

By:

Hernandez, Diana;
Mee, P. Joseph;
Martin, Joanne E.;
Tybulewicz, Victor L. J.;
Fisher, Elizabeth M. C.

Publication type:

Article

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 823, doi. 10.1093/hmg/8.5.823

By:

Millar, Anna L.;
Pal, Tuya;
Madlensky, Lisa;
Sherman, Chris;
Temple, Larissa;
Mitri, Angela;
Cheng, Hong;
Marcus, Victoria;
Gallinger, Steven;
Redston, Mark;
Bapat, Bharati;
Narod, Steven

Publication type:

Article

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 743, doi. 10.1093/hmg/8.5.743

By:

Allikmets, Rando;
Raskind, Wendy H.;
Hutchinson, Amy;
Schueck, Nichole D.;
Dean, Michael;
Koeller, David M.

Publication type:

Article

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 775, doi. 10.1093/hmg/8.5.775

By:

Bertrandy, Solange;
Burlet, Philippe;
Clermont, Olivier;
Huber, Céline;
Fondrat, Christian;
Thierry-Mieg, Danielle;
Munnich, Arnold;
Lefebvre, Suzie

Publication type:

Article

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 907, doi. 10.1093/hmg/8.5.907

By:

Netik, Angela;
Forss-Petter, Sonja;
Holzinger, Andreas;
Molzer, Brunhilde;
Unterrainer, Gertraud;
Berger, Johannes

Publication type:

Article

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 763, doi. 10.1093/hmg/8.5.763

By:

Shelbourne, Peggy F.;
Killeen, Nigel;
Hevner, Robert F.;
Johnston, Heather M.;
Tecott, Laurence;
Lewandoski, Mark;
Ennis, Margaret;
Ramirez, Lucia;
Li, Zhen;
Iannicola, Carlo;
Littman, Dan R.;
Myers, Richard M.

Publication type:

Article

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 935, doi. 10.1093/hmg/8.5.935

By:

Colella, Stefano;
Nardo, Tiziana;
Mallery, Donna;
Borrone, Carla;
Ricci, Roberta;
Ruffa, Giuseppe;
Lehmann, Alan R.;
Stefanini, Miria

Publication type:

Article

Generation of an ∼2.4 Mb human X centromere-based minichromosome by targeted telomere-associated chromosome fragmentation in DT40.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 751, doi. 10.1093/hmg/8.5.751

By:

Mills, Walter;
Critcher, Ricky;
Lee, Charles;
Farr, Christine J.

Publication type:

Article

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 871, doi. 10.1093/hmg/8.5.871

By:

Weiler, Tracey;
Bashir, Rumaisa;
Anderson, Louise V. B.;
Davison, Keith;
Moss, Jennifer A.;
Britton, Stephen;
Nylen, Edward;
Keers, Sharon;
Vafiadaki, Elizabeth;
Bushby, Cheryl R. Greenberg2, Kate M. D.;
Wrogemann, Klaus

Publication type:

Article