Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 3

Results: 29

Expression of the myotonin protein kinase gene in preimplantation human embryos.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 389

By:

Daniels, Robert;
Kinis, Thannasis;
Serhal, Paul;
Monk, Marilyn

Publication type:

Article

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 383

By:

Blanquet, Véronique;
Turleau, Catherine;
Gross-Morand, Marie Sylvie;
Sénamaud-Beaufort, Catherine;
Doz, François;
Besmond, Claude

Publication type:

Article

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 329

By:

Lidov, Hart G. W.;
Selig, Sara;
Kunkel, Louis M.

Publication type:

Article

Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 373

By:

Schiaffino, M.Vittoria;
Bassi, Maria T.;
Rugarli, Elena I.;
Renieri, Alessandra;
Galli, Lucia;
Ballabio, Andrea

Publication type:

Article

Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 471

By:

Gutmann, David H.;
Wright, Douglas E.;
Geist, Robert T.;
Snider, William D.

Publication type:

Article

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 465

By:

Jou, Yuh-Shan;
Myers, Richard M.

Publication type:

Article

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 459

By:

Allamand, V.;
Broux, O.;
Bourg, N.;
Richard, I.;
Tischfield, J.A.;
Hodes, M.E.;
Conneally, P.M.;
Fardeau, M.;
Jackson, C.E.;
Beckmann, J.S.

Publication type:

Article

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 449

By:

Dubovsky, Jan;
Sheffield, Val C.;
Duyk, Geoffrey M.;
Weber, James L.

Publication type:

Article

A gene responsible for cavernous malformations of the brain maps to chromosome 7q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 453

By:

Dubovsky, Jan;
Zabramski, Joseph M.;
Kurth, Janice;
Spetzier, Robert F.;
Rich, Steven S.;
Orr, Harry T.;
Weber, James L.

Publication type:

Article

Blepharophimosis syndrome is linked to chromosome 3q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 443

By:

Small, Kent W.;
Stalvey, Mike;
Fisher, Lucretia;
Mullen, Lynne;
Dickel, Cynthia;
Beadles, Kevin;
Reimer, Robert;
Lessner, Alan;
Lewis, Karen;
Pericak-Vance, Margaret

Publication type:

Article

Deletion of the C-terminal end of aspartylgiucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 435

By:

Jalanko, Anu;
Manninen, Tuula;
Paltonen, Leena

Publication type:

Article

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 429

By:

Brais, Bernard;
Xie, Ya-Gang;
Sanson, Marc;
Morgan, Kenneth;
Weissenbach, Jean;
Korczyn, Amos D.;
Blumen, Sergiu C.;
Fardeau, Michel;
Tomé, Fernando M.S.;
Bouchard, Jean-Pierre;
Rouleau, Guy A.

Publication type:

Article

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 415

By:

Fantes, Judy;
Redeker, Bert;
Breen, Matthew;
Boyle, Shelagh;
Brown, John;
Fletcher, Judy;
Jones, Sinead;
Bickmore, Wendy;
Fukushima, Yoshimitsu;
Mannens, Marcel;
Danes, Sarah;
van Heyningen, Veronica;
Hanson, Isabel

Publication type:

Article

Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 423

By:

Martin, Maureen;
Mann, Dean;
Carrington, Mary

Publication type:

Article

Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 407

By:

Cid, Luis P.;
Montrose-Rafizadeh, Charhzad;
Smith, David I.;
Guggino, William B.;
Cutting, Garry R.

Publication type:

Article

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 401

By:

Zatz, Mayana;
Passos-Bueno, Maria Rita;
Cerqueira, Antonia;
Marie, Suely K.;
Vainzof, Mariz;
Pavanello, Rita C.M.

Publication type:

Article

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 395

By:

Bischoff, Farideh Z.;
Feldman, Gerald L.;
McCaskill, Christopher;
Subramanian, Stephanie;
Hughes, Mark R.;
Shaffer, Lisa G.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 3, p. 497
Publication type:: Article

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 493

By:

Greenberg, Cheryl R.;
Reimer, David;
Singal, Rupinder;
Triggs-Raine, Barbara;
Chudley, Albert E.;
Dilling, Louise A.;
Philipps, Sylvia;
Haworth, James C.;
Seargeant, Lorne E.;
Goodman, Stephen I.

Publication type:

Article

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 491

By:

Ikeda, M.;
Abe, K.;
Ogasawara, M.;
Kameya, T.;
Watanabe, M.;
Shoji, M.;
Hirai, S.;
Itoyama, Y.

Publication type:

Article

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 367

By:

Nancarrow, J.K.;
Holman, K.;
Mangelsdorf, M.;
Hori, T.;
Denton, M.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 323

By:

Schell, Ute;
Hehr, Andreas;
Feldman, George J.;
Robin, Nathaniel H.;
Zackai, Elaine H.;
de Die-Smulders, Christine;
Viskochil, David H.;
Stewart, Janet M.;
Wolff, Gerhard;
Ohashi, Hirofumi;
Price, R. Arlen;
Cohen, M.Michael;
Muenke, Maximilian

Publication type:

Article

Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 359

By:

Hergersberg, Martin;
Matsuo, Koichi;
Gassmann, Max;
Schaffner, Walter;
Lüscher, Bernhard;
Rülicke, Thomas;
Aguzzi, Adriano

Publication type:

Article

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 351

By:

Little, Melissa;
Holmes, Gregory;
Bickmore, Wendy;
van Heyningen, Veronica;
Hastie, Nicholas;
Wainwright, Brandon

Publication type:

Article

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 341

By:

Ogawa, Tatsuya;
Tomatsu, Shunji;
Fukuda, Seiji;
Yamagishi, Atsushi;
Rezvi, Golam Md. Maruf;
Sukegawa, Kazuko;
Kondo, Neomi;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Orii, Tadao

Publication type:

Article

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 337

By:

Caspari, Reiner;
Olschwang, Sylciane;
Friedl, Waltraut;
Mandl, Marion;
Boisson, Cécile;
Böker, Thorsten;
Augustin, Albert;
Kadmon, Martina;
Möslein, Gabriela;
Thomas, Gilles;
Propping, Peter

Publication type:

Article

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 489

By:

Meindl, Alfons;
Lorenz, Bright;
Achatz, Helene;
Hellebrand, Heide;
Schmitz-Valckenberg, Peter;
Meitinger, Thomas

Publication type:

Article

Linkage of posterior polymorphous corneal dystrophy to 20q11.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 485

By:

Héon, Elise;
Mathers, William D.;
Alward, L.M.Alward;
Weisenthal, Robert W.;
Sunden, Sara L.F.;
Fishbaugh, Jill A.;
Taylor, Chris M.;
Krachmer, Jay H.;
Sheffield, Val C.;
Stone, Edwin M.

Publication type:

Article

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 479

By:

Fossdal, Ragnheidur;
Magnússon, Loftur;
Weber, James L.;
Jensson, Ólafur

Publication type:

Article