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

Results: 27

The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1479, doi. 10.1093/hmg/8.8.1479

By:

Smith, Darrin P.;
Spicer, James;
Smith, Amanda;
Swift, Sally;
Ashworth, Alan

Publication type:

Article

Use of a human minichromosome as a cloning and expression vector for mammalian cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1417, doi. 10.1093/hmg/8.8.1417

By:

Guiducci, Cristiana;
Ascenzioni, Fiorentina;
Auriche, Christina;
Piccolella, Enza;
Guerrini, Anna Maria;
Donini, Pierluigi

Publication type:

Article

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461

By:

Marsh, Debbie J.;
Kum, Jennifer B.;
Lunetta, Kathryn L.;
Bennett, Michael J.;
Gorlin, Robert J.;
Ahmed, S. Faisal;
Bodurtha, Joann;
Crowe, Carol;
Curtis, Mary A.;
Dasouki, Majed;
Dunn, Teresa;
Feit, Howard;
Geraghty, Michael T.;
Graham Jr, John M.;
Hodgson, Shirley V.;
Hunter, Alasdair;
Korf, Bruce R.;
Manchester, David;
Miesfeldt, Susan;
Murday, Victoria A.

Publication type:

Article

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1517, doi. 10.1093/hmg/8.8.1517

By:

de Villiers, J. Nico P.;
Hillermann, Renate;
Loubser, Lynzie;
Kotze, Maritha J.

Publication type:

Article

An L1 element intronic insertion in the black-eyed white (MITF[sup mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1431, doi. 10.1093/hmg/8.8.1431

By:

Yajima, Ichiro;
Sato, Shigeru;
Kimura, Takaharu;
Yasumoto, Ken-ichi;
Shibahara, Shigeki;
Goding, Colin R.

Publication type:

Article

Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotropic lateral sclerosis kindreds.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1451, doi. 10.1093/hmg/8.8.1451

By:

Ratovitski, Tamara;
Corson, Laura B.;
Strain, Jeffrey;
Wong, Philip;
Cleveland, Don W.;
Culotta, Valeria C.;
Borchelt, David R.

Publication type:

Article

Targeted disruption of the lysosomal [alpha]-mannosidase gene results in mice resembling a mild form of human [alpha]-mannosidosis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1365, doi. 10.1093/hmg/8.8.1365

By:

Stinchi, Sofia;
Lüllmann-Rauch, Renate;
Hartmann, Dieter;
Coenen, Ruth;
Beccari, Tommaso;
Orlacchio, Aldo;
Figura, Kurt von;
Saftig, Paul

Publication type:

Article

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1473, doi. 10.1093/hmg/8.8.1473

By:

Goodyer, Ian D.;
Jones, Emma E.;
Monaco, Anthony P.;
Francis, Michael J.

Publication type:

Article

The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1373, doi. 10.1093/hmg/8.8.1373

By:

Smith, Zoe E.

Publication type:

Article

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1491, doi. 10.1093/hmg/8.8.1491

By:

Alwazzan, Madawi;
Newman, Emma;
Hamshere, Marion G.;
Brook, J. David

Publication type:

Article

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1509, doi. 10.1093/hmg/8.8.1509

By:

Grunsven, Elisabeth G. van;
Mooijer, Petra A. W.;
Aubourg, Patrick;
Wanders, Ronald J. A.

Publication type:

Article

High prevalence of symptoms of Meniere's disease in three families with a mutation on the COCH gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1425, doi. 10.1093/hmg/8.8.1425

By:

Fransen, Erik;
Verstreken, Margriet;
Verhagen, Wim I. M.;
Wuyts, Floris L.;
Huygen, Patrick L. M.;
D'Haese, Patrick;
Robertson, Nahid G.;
Morton, Cynthia C.;
McGuirt, Wyman T.;
Smith, Richard J. H.;
Declau, Frank;
Heyning, Paul H. Van de;
Camp, Guy Van

Publication type:

Article

Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1409, doi. 10.1093/hmg/8.8.1409

By:

Ema, Masatsugu;
Ikegami, Shiro;
Hosoya, Tomonori;
Mimura, Junsei;
Ohtani, Haruo;
Nakao, Kazuki;
Inokuchi, Kaoru;
Katsuki, Motoya;
Fujii-Kuriyama, Yoshiaki

Publication type:

Article

Cellular dysfunction of LQT5-minK mutants: abnormalities of I [sub Ks3] I [sub Kr] and trafficking in long QT syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1499, doi. 10.1093/hmg/8.8.1499

By:

Bianchi, Laura;
Shen, Zhijun;
Dennis, Adrienne T.;
Priori, Silvia G.;
Napolitano, Carlo;
Ronchetti, Elena;
Bryskin, Robert;
Schwartz, Peter J.;
Brown, Arthur M.

Publication type:

Article

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1357, doi. 10.1093/hmg/8.8.1357

By:

Tsai, Ting-Fen

Publication type:

Article

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1557, doi. 10.1093/hmg/8.8.1557

By:

Kimberland, Michelle L.

Publication type:

Article

Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1487, doi. 10.1093/hmg/8.8.1487

By:

Kimura, Kazumi;
Noguchi, Emiko;
Shibasaki, Masanao;
Arinami, Tadao;
Yokouchi, Yukako;
Takeda, Kazunori;
Yamakawa-Kobayashi, Kimiko;
Matsui, Akira;
Hamaguchi, Hideo

Publication type:

Article

Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1561, doi. 10.1093/hmg/8.8.1561

By:

Schmucker, Beatrice

Publication type:

Article

A common functional polymorphism (C->A substitution at position -863) in the promoter region of the tumour necrosis factor-Alpha(TNF-Alpha) gene associated with reduced circulating levels of TNF-Alpha.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1443, doi. 10.1093/hmg/8.8.1443

By:

Skoog, Tiina;
van't Hooft, Ferdinand M.;
Kaltin, Bengt;
Jovinge, Stevan;
Boquist, Suzanna;
Nilsson, Jan;
Ericksson, Per;
Hansten, Anders

Publication type:

Article

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1523, doi. 10.1093/hmg/8.8.1523

By:

Houten, S. M.;
Romeijn, G. J.;
Koster, J.;
Gray, R. G. F.;
Darbyshire, P.;
Smit, G. P. A.;
Klerk, J. B. C. de;
Duran, M.;
Gibson, K. M.;
Wanders, R. J. A.;
Waterham, H. R.

Publication type:

Article

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubles throughout the cell cycle.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1387, doi. 10.1093/hmg/8.8.1387

By:

Cainarca, Silvia;
Messali, Silvia;
Ballabio, Andrea;
Meroni, Germana

Publication type:

Article

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1571, doi. 10.1093/hmg/8.8.1571

By:

Kirschner, Renate;
Rosenberg, Thomas;
Schultz-Heienbrok, Robert;
Lenzner, Steffen;
Feil, Silke;
Roepman, Ronald;
Cremers, Frans P. M.;
Ropers, Hans-Hilger;
Berger, Wolfgang

Publication type:

Article

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1541, doi. 10.1093/hmg/8.8.1541

By:

Guillonneau, Xavier;
Piriev, Natik I.;
Danciger, Michael;
Kozak, Christine A.;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Farber, Debora B.

Publication type:

Article

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1547, doi. 10.1093/hmg/8.8.1547

By:

Ambrosini, Loreta

Publication type:

Article

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased ABeta42 secretion.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1529, doi. 10.1093/hmg/8.8.1529

By:

Jonghe, Chris De;
Cruts, Marc;
Rogaeva, Ekaterina A.;
Tysoe, Carolyn;
Singleton, Andrew;
Vanderstichele, Hugo;
Meschino, Wendy;
Dermaut, Bart;
Vanderhoeven, Inge;
Backhovens, Hubert;
Vanmechelen, Eugeen;
Morris, Christopher M.;
Hardy, John;
Rubinsztein, David C.;
St. George-Hyslop, Peter H.;
Van Broeckhoven, Christine

Publication type:

Article

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1397, doi. 10.1093/hmg/8.8.1397

By:

Buchner, Georg;
Montini, Eugenio;
Andolfi, Grazia;
Quaderi, Nandita;
Cainarca, Silvia;
Bassi, Maria Teresa;
Ballabio, Andrea;
Meroni, Germana;
Franco, Brunella

Publication type:

Article

Mutation of the Na-K-Cl co-transporter gene Sic12a2 results in deafness in mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1579, doi. 10.1093/hmg/8.8.1579

By:

Dixon, Michael J.;
Gazzard, James;
Chaudhry, Shazia S.;
Sampson, Natalie;
Schulte, Bradley A.;
Steel, Karen P.

Publication type:

Article