Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 12

Results: 47

Subject Index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 12, p. 2273
Publication type:: Article

Adhalin gene polymorphism.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2269

By:

Allamand, V.;
Leturcq, F.;
Piccoto, F.;
Jeanpierre, M.;
Azibi, K.;
Roberds, S.L.;
Lim, L.E.;
Campbell, K.P.;
Beckmann, J.S.;
Kaplan, J.C.

Publication type:

Article

Author Index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 12, p. 2281
Publication type:: Article

Tri- and tetranucleotide repeat polymorphism in the LIPA gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2269

By:

Aslanidis, C.;
Lackner, K.J.;
Schmitz, G.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 12, p. 2271
Publication type:: Article

Dinucleotide repeat polymorphism at the human TYRP1 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2270

By:

Box, N.F.;
Sturm, R.A.

Publication type:

Article

DGGE polymorphism in intron 10 of MSH2, the HNPCC gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2268

By:

Wijnen, J.;
Fodde, R.;
Khan, P. Meera

Publication type:

Article

Dinucleotide repeat polymorphism at the human biglycan (BGN) locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2268

By:

Just, W.;
Rau, W.;
Müller, R.;
Geerkens, C.;
Vogel, W.

Publication type:

Article

Hinfl polymorphism detected by FAEES3 cDNA.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2267

By:

Bora, P.S.;
Smith, C.M.;
Devor, E.J.;
Cloninger, C.R.;
Gerhard, D.S.

Publication type:

Article

A dinucleotide repeat polymorphism in the MYBPH gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2267

By:

Watkins, H.;
MacRae, C.A.;
Fischman, D.A.;
Seidman, J.G.;
Seidman, C.E.

Publication type:

Article

Taql polymorphism of the human MXI1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2266

By:

Bova, G. S.;
Wechsler, D. S.;
Van Dang, C.;
Isaacs, W. B.

Publication type:

Article

A polymorphic dinucleotide repeat at the human HLA-F locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2266

By:

Fullan, A.;
Thomas, W.

Publication type:

Article

Dinucleotide repeat polymorphism adjacent to CDKN2.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2265

By:

Herbst, R. A.;
Nobori, T.;
Cavenee, W. K.;
Carson, D. A.;
Arden, K. C.

Publication type:

Article

Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2265

By:

Mochizuki, H.;
Prochazka, M.

Publication type:

Article

A polymorphic dinucleotide repeat in the second intron of HUMCLC.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2264

By:

Curran, M.;
Keating, M.

Publication type:

Article

AnEcoRI RFLP in human phenol sulfotransferase genes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2264

By:

Henkel, R. D.;
Galindo, L. V.;
Dooley, T. P.

Publication type:

Article

Identification of a polymorphism in exon 11 of the RET proto-oncogene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2263

By:

Bugalho, M.J.M.;
Cote, G. J.;
Khorana, S.;
Schutz, P.N.;
Gagel, R.F.

Publication type:

Article

Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2263

By:

Gregor, P.;
Hoff, M.;
Holik, J.;
Hadley, D.;
Fang, N.;
Coon, H.;
Byerley, W.

Publication type:

Article

Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2261

By:

Kostrzewa, Markus;
Burck-Lehmann, Uta;
Müller, Ulrich

Publication type:

Article

Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2257

By:

Lazar, Vladimir;
Grandjouan, Sophie;
Bognel, Caroline;
Couturier, Daniel;
Rougier, Philippe;
Bellet, Dominique;
Paillerets, Brigitte Bressac-de

Publication type:

Article

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2255

By:

Fransen, Erik;
Schrander-Stumpel, Connle;
Vits, Lieve;
Coucke, Paul;
Van Camp, Guy;
Willems, Patrick J.

Publication type:

Article

Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2251

By:

Folz, Rodney J.;
Peno-Green, Laura;
Crapo, James D.

Publication type:

Article

Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2249

By:

Teng, Hul;
Cuppens, Harry;
De Boeck, Christine;
Cassiman, Jean-Jacques

Publication type:

Article

A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2247

By:

Gutiérrez, Marina I.;
Bhatla, Kishor G.;
Berreiro, Cristina;
Spangler, Gordon;
Schvartzmann, Enrique;
Muriel, Federico Sackmann;
Magrath, lan T.

Publication type:

Article

Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2243

By:

Yamada, Yasukazu;
Goto, Haruko;
Murase, Takaji;
Ogasawara, Nobuaki

Publication type:

Article

Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2237

By:

Peltola, Minna;
Chiatayat, David;
Peltonen, Leena;
Jalanko, Anu

Publication type:

Article

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2231

By:

Hule, M.L.;
Chen, A.S.;
Tsujino, S.;
Shanske, S.;
DiMauro, S.;
Engel, A.G.;
Hirschhorn, R.

Publication type:

Article

Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2223

By:

Paunlo, Tllna;
Kangas, Hannele;
Kalkklnen, Nisse;
Haltia, Matti;
Palo, Jorma;
Peltonen, Leena

Publication type:

Article

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2219

By:

Chaib, Hassan;
Lina-Granade, Geneviéve;
Guilford, Parry;
Plauchu, Henri;
Levilliers, Jacqueline;
Morgon, Alain;
Petit, Christine

Publication type:

Article

The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2213

By:

Hermans, Monique M.P.;
De Graaff, Esther;
Kroos, Marian A.;
Mohkamsing, Serita;
Eussen, Bert J.;
Joosse, Marijke;
Willemsen, Rob;
Kleijer, Wim J.;
Oostra, Ben A.;
Reuser, Arnold J.J.

Publication type:

Article

Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2207

By:

Nöthen, Markus M.;
Cichon, Sven;
Hemmer, Susanne;
Hebebrand, Johannes;
Remschmidt, Helmut;
Lehmkuhl, Gerd;
Poustka, Fritz;
Schmidt, Martin;
Catalano, Marco;
Fimmers, Rolf;
Kömer, Judith;
Rletschel, Marcella;
Propping, Peter

Publication type:

Article

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2201

By:

Forlino, A.;
Zolezzi, F.;
Valli, M.;
Pignatti, P.F.;
Cetta, G.;
Brunelli, P.C.;
Mottes, M.

Publication type:

Article

Genetic heterogeneity in familial malignant melanoma.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2195

By:

MacGeoch, Catriona;
Bishop, Julia A.Newton;
Batallle, Veronique;
Bishop, D.Timothy;
Frischauf, Anne-Maria;
Melonl, Rolando;
Cuzlck, Jack;
Plnney, Elizabeth;
Spurr, Nigel K.

Publication type:

Article

Spectrum of small length germline mutations in the RB1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2187

By:

Lohmann, Dletmar R.;
Brandt, Birglt;
Höpping, Wolfgang;
Passarge, Eberhard;
Horsthemke, Bernhard

Publication type:

Article

The substitution of Arg for Gly in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2181

By:

Phillips, Michael S.;
Khanna, Vijay K.;
De Leon, Stella;
Frodls, Wanda;
Britts, Beverley A.;
MacLennan, David H.

Publication type:

Article

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2175

By:

Rees, Mark I.;
Andrew, Martin;
Jawad, Sudad;
Owen, Michael J.

Publication type:

Article

Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2169

By:

Foster, Keith;
Prowse, Amanda;
van den Berg, Anke;
Fleming, Stewart;
Hulsbeek, Miriam M.F.;
Crossey, Paul A.;
Richards, Frances M.;
Cairns, Paul;
Affara, Nabeel A.;
Ferguson-Smith, Malcolm A.;
Buys, Charles H.CM.;
Maher, Eamonn R.

Publication type:

Article

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2163

By:

Mulligan, Lois M.;
Eng, Charts;
Attlé, Tanla;
Lyonnet, Stanislas;
Marsh, Debbie J.;
Hyland, Valentine J.;
Robinson, Bruce G.;
Frilling, Andrea;
Verellen-Dumoulln, Christine;
Safar, Anne;
Venter, Deon J.;
Munnich, Arnold;
Ponder, Bruce A.J.

Publication type:

Article

Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2159

By:

Selelstad, Mark T.;
Hebert, Joan M.;
Lin, Alice A.;
UnderhllI, Peter A.;
Ibrahlm, Muntaser;
vollrath, Douglas;
Cavalll-Storza, L.Luca

Publication type:

Article

REPORTS.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2153

By:

Robin, Nathaniel H.;
Feldman, George J.;
Mitchell, Heather F.;
Lorenz, Peter;
Wilroy, R.Sid;
Zackal, Elaine H.;
AIIanson, Judith E.;
Reich, Elsa W.;
Pfeiffer, Rudolf A.;
Clarke, Lome A.;
Warmani, Matthew L.;
Mulliken, John B.;
Brueton, Louise A.;
Winter, Robin M.;
Price, R.Arien;
Gasser, David L.;
Muenke, Maximilian

Publication type:

Article

Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2147

By:

Berg, Lutz-Peter;
Scopes, Deborah A.;
Alhaq, Anwar;
Kakkar, Vijay V.;
Cooper, David N.

Publication type:

Article

A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2137

By:

Rogner, Ute C.;
Kioschis, Petra;
Wilke, Klaus;
Gong, Wellong;
Pick, Elke;
Dietrich, Alexander;
Zechner, Ulrich;
Hameister, Horst;
Pragllola, Antonella;
Herman, Gail E.;
Yates, John R.W.;
Lehrach, Hans;
Poustka, Annemarie

Publication type:

Article

A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration site.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2131

By:

van der Drift, Pauline;
Chan, Alvin;
van Roy, Nadine;
Laureys, Geneviève;
Westerveld, Andries;
Speleman, Frank;
Versteeg, Rogier

Publication type:

Article

Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2123

By:

Jones, Christopher;
Slljepcevic, Predrag;
Marsh, Sharon;
Baker, Elizabeth;
Langdon, Wallace Y.;
Richards, Robert I.;
Tunnacliffe, Alan

Publication type:

Article

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2115

By:

Ritchie, Rachael J.;
Knight, Samantha J.L.;
Hirst, Mark C.;
Grewal, Prabhjit K.;
Bobrow, Martin;
Cross, Gareth S.;
Davies, Kay E.

Publication type:

Article

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2103

By:

Squitieri, F.;
Andrew, S.E.;
Goldberg, Y.P.;
Kremer, B.;
Spence, N.;
Zelsler, J.;
Nichol, K.;
Theilmann, J.;
Greenberg, J.;
Goto, J.;
Kanazawa, I.;
Vesa, J.;
Peltonen, L.;
Almqvist, E.;
Anvret, M.;
Telenius, H.;
Lin, B.;
Napolitano, G.;
Morgan, K.;
Hayden, M.R.

Publication type:

Article

Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 12, p. 2093

By:

Miniou, Pierre;
Jeanpierre, Marc;
Blanquet, Véronique;
Sibella, Valé rie;
Bonneau, Dominique;
Herbelin, Catherine;
Fischer, Alain;
Niveleau, Alain;
Viegas-Péquignot, Evani

Publication type:

Article