Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 2

Results: 32

Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 173

By:

Mooser, Vincent;
Mancini, Francesco P.;
Bopp, Sabina;
Pethö-Schramm, Attila;
Guerra, Rudy;
Boerwinkle, Eric;
Müller, Hans-Joachim;
Hobbs, Helen H.

Publication type:

Article

Engraftment of immune-deficient mice with primitive hematopoietic cells from β-thalassemia and sickle cell anemia patients: implications for evaluating human gene therapy protocols.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 163

By:

Larochelle, André;
Vormoor, Josef;
Lapidot, Tsvee;
Sher, Graham;
Furukawa, Tatsuo;
Li, Qiliang;
Shultz, Leonard D.;
Olivieri, Nancy F.;
Stamatoyannopoulos, George;
Dick, John E.

Publication type:

Article

Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 157

By:

Beard, Shannon E.;
Goodman, Stephen I.;
Bemelen, Kristina;
Frerman, Frank E.

Publication type:

Article

COMMENTARY: So many needles, so much hay.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 153

By:

Brennan, Miles B.;
Hochgeschwender, Ute

Publication type:

Article

REVIEW: The end of an era.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 149

By:

Williamson, Bob

Publication type:

Article

Instructions to Authors.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 2, p. 323
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 2, p. 321
Publication type:: Article

Two novel mutations involved in hereditary tyrosinemia type I.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 319

By:

St-Louis, Maryse;
Poudrier, Jacques;
Phaneuf, Daniel;
Lecierc, Barbara;
Laframboise, Rachel;
Tanguay, Robert M.

Publication type:

Article

Five novel genes from the cri-du-chat critical region isolated by direct selection.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 295

By:

Simmons, Andrew D.;
Goodart, Sheryl A.;
Gallardo, Teresa D.;
Overhauser, Joan;
Lovett, Michael

Publication type:

Article

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1α subunit.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 315

By:

Hemalatha, S.G.;
Kerr, Douglas S.;
Wexler, Isaiah D.;
Lusk, Marllyn M.;
Kaung, Marie;
Du, Yufen;
Kolli, Madhu;
Schelper, Robert L.;
Patel, Mulchand S.

Publication type:

Article

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 309

By:

Williams, Charlene J.;
Rock, Matthew;
Considine, Eileen;
McCarron, Seamus;
Gow, Peter;
Ladda, Roger;
McLain, David;
Michels, Virginia M.;
Murphy, William;
Prockop, Darwin J.;
Ganguly, Arupa

Publication type:

Article

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 307

By:

Lissens, Willy;
Desguerre, Isabelle;
Benelli, Chantal;
Marsac, Cécile;
Fouque, Françoise;
Haenggell, Charles;
Ponsot, Gérard;
Seneca, Sara;
Liebaers, Inge;
Meirleir, Linda De

Publication type:

Article

CAG repeat length variation in sperm from a patient with Kennedy's disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 303

By:

Zhang, Lin;
Fischbeck, Kenneth H.;
Arnhelm, Norman

Publication type:

Article

An amino-terminally truncated p53 protein expressed in a human choriocarcinoma cell line, CC1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 313

By:

Horikawa, Izumi;
Suzuki, Mikio;
Oshimura, Mitsuo

Publication type:

Article

Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 289

By:

Page, Scott L.;
Earnshaw, William C.;
Choo, K.H.Andy;
Shaffer, Lisa G.

Publication type:

Article

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly→Arg) in the type II collagen trimer.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 285

By:

Mortler, Geert R.;
Wilkin, Douglas J.;
Wllcox, William R.;
Rimoin, David L.;
Lachman, Ralph S.;
Eyre, David R.;
Cohn, Daniel H.

Publication type:

Article

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 279

By:

Brederlow, Benigna von;
Hahn, Angelika F.;
Koopman, Wilma J.;
Ebers, George C.;
Bulman, Dennis E.

Publication type:

Article

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 275

By:

Lamoril, Jérôme;
Martasek, Pavel;
Deybach, Jean-Charles;
Silva, Vasco Da;
Grandchamp, Bernard;
Nordmann, Yves

Publication type:

Article

Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 269

By:

Smit, Lisa S.;
Strong, Theresa V.;
Wilkinson, Daniel J.;
Macek, Milan;
Mansoura, Monique K.;
Wood, Deborah L.;
Cole, Jeffery L.;
Cutting, Garry R.;
Cohn, Jonathan A.;
Dawson, David C.;
Collins, Francis S.

Publication type:

Article

Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic Stiff—Man syndrome, and mapping of its gene (AMPH) to chromosome 7p13–p14.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 265

By:

Yamamoto, Raina;
LI, Xu;
Winter, Silke;
Francke, Uta;
Kilimann, Manfred W.

Publication type:

Article

The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 257

By:

Sultana, Razla;
Adler, David A.;
Edelhoff, Susanne;
Carrel, Laura;
Lee, Kwang ho;
Chapman, Verne C.;
Willard, Huntington F.;
Disteche, Christine M.

Publication type:

Article

The DXS423E gene in Xp11.21 escapes X chromosome inactivation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 251

By:

Brown, Carolyn J.;
Miller, Andrew P.;
Carrel, Laura;
Rupert, Jim L.;
Davies, Kay E.;
Willard, Huntington F.

Publication type:

Article

The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 243

By:

Rocques, Phillppe J.;
Clark, Jeremy;
Ball, Sarah;
Crew, Jayne;
Gill, Sandra;
Christodoulou, Zoe;
Borts, Rhona H.;
Louis, Edward J.;
Davies, Kay E.;
Cooper, Colin S.

Publication type:

Article

Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 237

By:

Han, Hye-Jung;
Maruyama, Masakazu;
Baba, Shozo;
Park, Jae-Gahb;
Nakamura, Yusuke

Publication type:

Article

Slow N-acetylation genotype is a susceptibility factor in occupational and smoking related bladder cancer.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 231

By:

Risch, A.;
Wallace, D.M.A.;
Bathers, S.;
Sim, E.

Publication type:

Article

Structure and function of ASP, the human homolog of the mouse agouti gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 223

By:

Wilson, Brent D.;
Ollmann, Michael M.;
Kang, Lana;
Stoffel, Markus;
Bell, Graeme I.;
Barsh, Gregory S.

Publication type:

Article

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 215

By:

Kauppinen, R.;
Mustajoki, S.;
Pihlaja, H.;
Peltonen, L.;
Mustajoki, P.

Publication type:

Article

Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 207

By:

Almqvist, E.;
Spence, N.;
Nichol, K.;
Andrew, S.E.;
Vesa, J.;
Peltonen, L.;
Anvret, M.;
Goto, J.;
Kanazawa, I.;
Goldberg, Y.P.;
Hayden, M.R.

Publication type:

Article

Haplotype analysis of the Δ2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent ‘founder’ HD haplotype.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 203

By:

Rubinsztein, David C.;
Leggo, Jayne;
Goodburn, Sandy;
Barton, David E.;
Ferguson-Smith, Malcolm A.

Publication type:

Article

Analysis of the CD3 gene region and type 1 diabetes: application of fluorescence-based technology to linkage disequilibrium mapping.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 197

By:

Pritchard, Lynn E.;
Kawaguchi, Yoshihiko;
Reed, Peter W.;
Copeman, James B.;
Davies, June L.;
Barnett, Anthony H.;
Bain, Stephen C.;
Todd, John A.

Publication type:

Article

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 189

By:

Telenius, H.;
Almqvist, E.;
Kremer, B.;
Spence, N.;
Squitieri, F.;
Nichol, K.;
Grandell, U.;
Starr, E.;
Benjamin, C.;
Castaldo, I.;
Calabrese, O.;
Anvret, M.;
Goldberg, Y.P.;
Hayden, M.R.

Publication type:

Article

Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 183

By:

Kosugi, Shinji;
Dop, Cornelis Van;
Geffner, Mitchell E.;
Rabl, Wolfgang;
Carel, Jean-Claude;
Chaussain, Jean-Louis;
Mori, Toru;
Merendino, John J.;
Shenker, Andrew

Publication type:

Article