Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 8

Results: 36

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1285

By:

Rafi, Mohammad A.;
Luzi, Paola;
Chen, Yue Qun;
Wenger, David A.

Publication type:

Article

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1273

By:

Wirth, B.;
Hahnen, E.;
Morgan, K.;
DiDonato, C.J.;
Dadze, A.;
Rudnik-Schöneborn, S.;
Simard, L.R.;
Zerres, K.;
Burghes, A.H.M.

Publication type:

Article

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1267

By:

Hoffmeyer, Sven;
Assum, Günter;
Griesser, Johann;
Kaufmann, Dieter;
Nurnberg, Peter;
Krone, Winfrid

Publication type:

Article

Comparison of the positional cloning methods used to isolate the BRCA1 gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1259

By:

Harshman, Keith;
Bell, Russell;
Rosenthal, Judith;
Katcher, Harold;
MlKl, Yoshio;
Swenson, Jeff;
Gholami, Zahra;
Frye, Cheryl;
Ding, Wei;
Dayananth, Priya;
Eddington, Ken;
Norris, Franklin H.;
Bristow, Pamela K.;
Phelps, Robert;
Haltier, Thomas;
Stone, Steven;
Shaffer, Daniel;
Bayer, Steven;
Hussey, Charles;
Tran, Thanh

Publication type:

Article

Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1251

By:

Phelps, Stephanie F.;
Hauser, Michael A.;
Cole, Neil M.;
Rafael, Jill A.;
Hinkle, Richard T.;
Faulkner, John A.;
Chamberlain, Jeffrey S.

Publication type:

Article

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465

By:

May, Melanie;
Colleaux, Laurence;
Murgia, Alessandra;
Aylsworth, Arthur;
Nussbaum, Robert;
Fontes, Michel;
Schwartz, Charles

Publication type:

Article

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1463

By:

Varon, Raymonda;
Magdorf, Klaus;
Staab, Doris;
Wahn, Hans-Ulrich;
Krawczak, Michael;
Sperling, Karl;
Reis, André

Publication type:

Article

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1459

By:

Bardienb, Soraya;
Ebenezer, Neil;
Greenberg, Jacquie;
Inglehearn, Chris F.;
Bartmann, Lecia;
Goliath, Rene;
Beighton, Peter;
Ramesar, Rajkumar;
Bhattacharya, Shomi S.

Publication type:

Article

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1453

By:

Sarfarazi, Mansoor;
Akarsu, A.Nurten;
Sayli, Bekir Sitki

Publication type:

Article

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1447

By:

Camuzat, Agnès;
Dollfus, Hélène;
Rozet, Jean-Michel;
Gerber, Sylvie;
Bonneau, Dominique;
Bonnemaison, Michèle;
Briard, Marie-Louise;
Dufier, Jean-Louis;
Ghazi, Imad;
Leowski, Corinne;
Weissenbach, Jean;
Frezal, Jean;
Munnich, Arnold;
Kaplan, Josseline

Publication type:

Article

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1441

By:

Holmberg, Monica;
Johansson, Jenni;
Forsgren, Lars;
Heijbel, Jan;
Sandgren, Ola;
Holmgren, Gösta

Publication type:

Article

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1435

By:

Héon, Elise;
Sheth, Bhavna P.;
Kalenak, Jeffrey W.;
Sunden, Sara L.F.;
Streb, Luan M.;
Taylor, Chris M.;
Alward, Wallace L.M.;
C.Sheffield, Val;
Stone, Edwin M.

Publication type:

Article

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1429

By:

Laue, Louisa;
Wu, Shao-Ming;
Kudo, Masataka;
Hsueh, Aaron J.W.;
Cutler, Gordon B.;
Griffin, James E.;
Wilson, Jean D.;
Brain, Caroline;
Berry, A.Caroline;
Grant, David B.;
Chan, Wai-Yee

Publication type:

Article

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1421

By:

Tiranti, Valeria;
Chariot, Patrick;
Carella, Francesco;
Toscano, Antonio;
Soliveri, Paola;
Girlanda, Paolo;
Carrara, Franco;
Fratta, Giovanni Matteo;
Reid, Fiona M.;
Mariotti, Caterina;
Zeviani, Massimo

Publication type:

Article

Friedreich's ataxia: a defect in signal transduction?

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1411

By:

Carvajal, Jaime J.;
Pook, Mark A.;
Doudney, Kit;
Hillermann, Renate;
Wilkes, David;
Al-Mahdawi, Sahar;
Williamson, Robert;
Chamberlain, Susan

Publication type:

Article

Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1403

By:

van Ree, Janine H.;
van den Broek, Walther J.J.A.;
van der Zee, André;
Dahlmans, Vivian E.H.;
Wieringa, Bé;
Frants, Rune R.;
Havekes, Louis M.;
Hofker, Marten H.

Publication type:

Article

Myotonia levior is a chloride channel disorder.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1397

By:

Lehmann-Horn, Frank;
Mailänder, Volker;
Heine, Roland;
George, Alfred L.

Publication type:

Article

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1391

By:

Parmentier, Laurent;
Blanchet-Bardon, Claudine;
Nguyen, Simon;
Prud'homme, Jean-François;
Dubertret, Louis;
Weissenbach, Jean

Publication type:

Article

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1387

By:

Gorry, Michael C.;
Preston, Robert A.;
White, Gregory J.;
Zhang, Yingze;
Singhal, Virender K.;
Losken, H.Wolgang;
Parker, Michael G.;
Nwokoro, Ngozi A.;
Post, J.Christopher;
Ehrlich, Garth D.

Publication type:

Article

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1381

By:

Attié, Tania;
Pelet, Anna;
Edery, Patrick;
Eng, Charis;
Mulligan, Lois M.;
Amiel, Jeanne;
Boutrand, Laetitia;
Beldjord, Chérif;
Nihoul-Fékété, Claire;
Munnich, Arnold;
Ponder, Bruce A.J.;
Lyonnet, Stanislas

Publication type:

Article

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1373

By:

Lee, Cheng Chi;
Yazdani, Ali;
Wehnert, Manfred;
Zhao, ZhaoYang;
Lindsay, Elizabeth A.;
Bailey, Jennifer;
Coolbaugh, Mary I.;
Couch, Lisa;
Xiong, Mengli;
Chinault, A.Craig;
Baldini, Antonio;
Caskey, C.Thomas

Publication type:

Article

Expression of the Huntington's disease (IT15) protein product in HD patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1365

By:

Schilling, Gabrlele;
Sharp, Alan H.;
Loev, Scott J.;
Wagster, Molly V.;
Li, Shi-Hua;
Stine, O.Colin;
Ross, Christopher A.

Publication type:

Article

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1355

By:

Cruts, Marc;
Backhovens, Hubert;
Theuns, Jessie;
Clark, Robert F.;
Le Paslier, Denis;
Weissenbach, Jean;
Goate, Alison M.;
Martin, Jean-Jaques;
Van Broeckhoven, Christine

Publication type:

Article

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1347

By:

Clark, Robert F.;
Cruts, Marc;
Korenblat, Kevin M.;
He, Chengshi;
Talbot, Christopher;
Van Broeckhoven, Christine;
Goate, Alison M.

Publication type:

Article

A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1337

By:

Geisen, Caroline;
Delius, Hajo;
Lichter, Peter;
Kahn, Tomas

Publication type:

Article

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1331

By:

Turco, Alberto E.;
Rossetti, Sandro;
Bresin, Elena;
Corra, Stefano;
Gammaro, Linda;
Maschio, Giuseppe;
Pignatti, Pier Franco

Publication type:

Article

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327

By:

Rötig, Agnès;
Bourgeron, Thomas;
Chretien, Dominique;
Rustin, Pierre;
Munnich, Arnold

Publication type:

Article

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1321

By:

Savoia, Anna;
Centra, Marta;
lanzano, Leonarda;
de Cillis, Gian Pio;
Zelante, Leopoldo;
Buchwald, Manuel

Publication type:

Article

A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1313

By:

Hansen, Lars;
Hansen, Torben;
Vestergaard, Henrik;
Bjørbæk, Christian;
Echwald, Søren M.;
Clausen, Jesper O.;
Chen, Yu Hua;
Chen, Mao Xiang;
Cohen, Patricia T.W.;
Pedersen, Oluf

Publication type:

Article

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1305

By:

Lucente, D.;
Chen, H.M.;
Shea, D.;
Samec, S.N.;
Rutter, M.;
Chrast, R.;
Rossier, C.;
Buckler, A.;
Antonarakis, S.E.;
McCormick, M.K.

Publication type:

Article

Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1291

By:

Yaspo, Marie-Laure;
Gellen, Lisa;
Mott, Richard;
Korn, Bernhard;
Nizetic, Dean;
Poustka, AnneMarie;
Lehrach, Hans

Publication type:

Article

Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1245

By:

Wells, Dominic J.;
Wells, Kim E.;
Asante, Emmanuel A.;
Turner, Gaynor;
Sunada, Yoshihide;
Campbell, Kevin P.;
Walsh, Frank S.;
Dickson, George

Publication type:

Article

An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1474

By:

Yulug, Isik G.;
Katsanis, Nicholas;
de Belleroche, Jacqueline;
Collinge, John;
Fisher, Elizabeth M.C.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 8, p. 1473
Publication type:: Article

A de novo frame-shift mutation in the tuberin gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1471

By:

Kumar, A.;
Wolpert, C.;
Kandt, R.S.;
Segal, J.;
Pufky, J.;
Roses, A.D.;
Pericak-Vance, M.A.;
Gilbert, J.R.

Publication type:

Article

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1467

By:

Bitner-Glindzicz, Maria;
Turnpenny, Peter;
Höglund, Pia;
Kääriäinen, Helena;
Sankila, Eeva-Marja;
van der Maarel, Sylvere M.;
de Kok, Yvette J.M.;
Ropers, Hans-Hilger;
Cremers, Frans P.M.;
Pembrey, Marcus;
Malcolm, Susan

Publication type:

Article