Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 2

Results: 55

Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 341

By:

Vesa, Jouni;
Hellsten, Elina;
Bamoski, Barry L.;
Emanuel, Beverly S.;
Billheimer, Jeffrey T.;
Mead, Scott;
Cowell, John K.;
Strauss, Jerome F.;
Peltonen, Leena

Publication type:

Article

A PCR generated AccI RFLP in the 3′ untranslated region of the von Hippel — Lindau disease (VHL) tumour suppressor gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 390

By:

Payne, S.J.;
Richards, F.M.;
Maher, E.R.

Publication type:

Article

Dinucleotide repeat polymorphism for HLX1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 392

By:

Sander, A.;
Kennedy, M.A.;
Rayner, J.C.;
Murray, J.C.

Publication type:

Article

Dinucleotide repeat polymorphism at the D18S336 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 390

By:

Nakashima, H.;
Sakai, M.;
Inaba, R.;
Imamura, T.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1994, v. 3, n. 2, p. 391
Publication type:: Article

EcoRl and BglII polymorphisms at the BPI-locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 389

By:

Hollings, P.E.;
Gray, P.W.

Publication type:

Article

TaqI/Clal polymorphism in the P4HB gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 387

By:

Matysiak-Scholze, U.;
Scherer, G.

Publication type:

Article

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 303

By:

Mcintosh, Ialn;
Abbott, Margaret H.;
Warman, Matthew L.;
Olsen, Biorn R.;
Francomano, Clair A.

Publication type:

Article

VNTR at the DXYS14 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 389

By:

Roux, M.-G.Le;
Pascal, O.;
Lostanlen, A.;
Bérard, I.;
Vergnaud, O.;
Moisan, J.-P.

Publication type:

Article

Tetranucleotide repeat polymorphism (D8S582) for human EST00680 (D8S340E).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 386

By:

Sullivan, L.S.;
Parrish, J.;
Wagner, M.J.;
Wells, D.;
Blanton, S.H.;
Daiger, S.P.

Publication type:

Article

Dinucleotide repeat polymorphism at D9S328E (EST hbc220).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 387

By:

Takeda, J.;
Blackbum, C.L.;
Menzel, S.;
Yano, H.;
Bell, G.I.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS1283E locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 388

By:

Yen, P.;
Lin, H.

Publication type:

Article

An EcoRI RFLP at the D6S509E locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 388

By:

Yen, P.H.;
Salido, E.;
Shapiro, L.;
Mohandas, T.

Publication type:

Article

Transcribed dinucleotide repeat polymorphism in the IGF2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 386

By:

Rainier, S.;
Dobry, C.J.;
Feinberg, A.P.

Publication type:

Article

Dinucleotide repeat polymorphism at D7S813.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 385

By:

Ye, L.;
Nakura, J.;
Miki, T.;
Kihara, K.;
Nagano, K.;
Mitsuda, N.;
Kamino, K.;
Ogihara, T.;
Takahashi-Fujii, A.;
Ishino, Y.

Publication type:

Article

Dinucleotide repeat polymorphisms in the HSD3B2 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 384

By:

Verreault, H.;
Dufort, I.;
Simard, J.;
Labrie, F.;
Luu-The, V.

Publication type:

Article

BstUI and Dpnll RFLPs at the COL5A1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 385

By:

Greenspan, D.S.;
Pasquinelli, A.E.

Publication type:

Article

New alleles in F7 VNTR.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 384

By:

Knijf, P.de;
Green, F.;
Johansen, L.G.;
Grootendorst, D.;
Temple, A.;
Cruickshank, J.K.;
Humphries, S.E.;
Jespersen, J.;
Kluft, C.

Publication type:

Article

Two dinucleotide repeats tightly linked to D12S91.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 382

By:

de Souza, A.Pereira;
Allamand, V.;
Richard, l.;
Brenguier, L.;
Beckmann, J.S.

Publication type:

Article

Pstl RFLP at the SERT locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 383

By:

Gelernter, J.;
Freimer, M.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S474 locus.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 383

By:

Ward, K.;
Riley, R.;
Lu, J.;
Fillmore, K.;
Robertson, M.;
Nelson, L.

Publication type:

Article

Dinucleotide repeat polymorphism at D15S221.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 382

By:

Allamand, V.;
Souza, A.Pereira de;
Richard, I.;
Brenguier, L.;
Beckmann, J.S.

Publication type:

Article

Three dinucleotide markers on chromosome 21.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 381

By:

de Souza, A.Pereira;
Allamand, V.;
Richard, I.;
Brenguier, L.;
Beckmann, J.S.

Publication type:

Article

Chromosome 13 and chromosome 2 (CA)n polymorphisms.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 380

By:

Deyo, A.M.;
Matise, T.C.;
Perry, Y.M.;
Ferrell, R.E.

Publication type:

Article

Steroid 11β-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 377

By:

Skinner, C.A.;
Rumsby, G.

Publication type:

Article

Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 379

By:

Giacalone, Joseph;
Francke, Uta

Publication type:

Article

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 373

By:

Hayward, Caroline;
Rae, Alison L.;
Porteous, Mary E.M.;
Logie, Lindsay J.;
Brock, David J.H.

Publication type:

Article

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 369

By:

Culard, Jean-Francois;
Desgeorges, Marie;
Romey, Marie-Catherine;
Malzac, Perrine;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 365

By:

Bienvenu, Thierry;
Cazeneuve, Ceclle;
Beldjord, Cherlf;
Dusser, Daniel;
Kaplan, Jean Claude;
Hubert, Dominique

Publication type:

Article

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin geneother.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 367

By:

Keen, T.Jeffrey;
Ingleheam, Chris F.;
Kim, Robert;
Bird, Alan C.;
Bhattacharya, Shoml

Publication type:

Article

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 371

By:

Claustres, Mireille;
Laussel, Maguelone;
Desgeorges, Marie;
Demallle, Jacques

Publication type:

Article

Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 363

By:

Elshafey, Alaa;
Lanyon, W.George;
Connor, J.Mlchael

Publication type:

Article

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 347

By:

Irving, Richard M.;
Moffat, David A.;
Hardy, David G.;
Barton, David E.;
Xuereb, John H.;
Maher, Eamonn R.

Publication type:

Article

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 355

By:

Ionasescu, Victor;
Searby, Charles;
Ionasescu, Rebecca

Publication type:

Article

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 351

By:

Al-Maghtheh, Mai;
Inglehearn, Chris F.;
Jeffrey, T. Keen;
Evans, Kevin;
Moore, Anthony T.;
Jay, Marcelle;
Bird, Alan C.;
Bhattacharya, Shomi S.

Publication type:

Article

Genetic linkage of familial expansile osteolysis to chromosome 18q.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 359

By:

Hughes, Anne E.;
Shearman, Amanda M.;
Weber, James L.;
Barr, R.John;
Wallace, Richard G.H.;
Osterberg, Paul H.;
Nevin, Norman C.;
A.B.Mollan, Raymond

Publication type:

Article

Localizaion of the gene for dominant cystoid macular dystrophy on chromosome 7p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 299

By:

Kremer, Hannie;
Pinckers, Alfred;
Helm, Bellinda van den;
Deutman, August F.;
Ropers, Hans-HIlger;
Mariman, Edwin C.M.

Publication type:

Article

Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 229

By:

Ben-Arie, Nissim;
Lancet, Doron;
Taylor, Clare;
Khen, Miriam;
NaomlWalker;
Ledbetter, David H.;
Carrozzo, Romeo;
Patel, Ketan;
Sheer, Denlse;
Lehrach, Hans;
North, Michael A.

Publication type:

Article

Instability of simple sequence repeats in a mammalian cell line.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 253

By:

Farber, Rosann A.;
Petes, Thomas D.;
Dominska, Margaret;
Hudgens, Sarah S.;
Liskay, R.Michael

Publication type:

Article

Activation of the ΓE-crystallin pseudogene in the human hereditary Coppock-like cataract.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 279

By:

Brakenhoff, Ruud H.;
Henskens, Hans A.M.;
Rossum, Maarten W.P.C.van;
Lubsen, Nicolette H.;
Schoenmakers, John G.G.

Publication type:

Article

The E subunit of vacuolar H-ATPase localizes close to the centromere on human chromosome 22.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 335

By:

Baud, Véronique;
Mears, Alan J.;
Lamour, Valérie;
Scamps, Christine;
Duncan, Alessandra M.V.;
McDermid, Heather E.;
Liplnski, Marc

Publication type:

Article

A point mutation responsible for human erythrocyte AMP deaminase deficiency.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 331

By:

Yamada, Yasukazu;
Goto, Haruko;
Ogasawara, Nobuaki

Publication type:

Article

Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 327

By:

Simard, Jacques;
Rhéaume, Eric;
Lebianc, Jean-François;
Wallis, Simon C.;
Joplln, Graham F.;
Gilbey, Stephen;
Allanson, Judith;
Mettler, Gabrielle;
Bettendorf, Markus;
Heinrich, Udo;
Labrie, Fernand

Publication type:

Article

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 323

By:

Gal, Andreas;
Xu, Suying;
Piczenik, Yoa;
Eiberg, Hans;
Duvigneau, Christine;
Schwinger, Eberhard;
Rosenberg, Thomas

Publication type:

Article

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 317

By:

LemmInk, Henny H.;
KIuIjtmans, Léonard A.J.;
Brunner, Han G.;
Schröder, Cornells H.;
Knebelmann, Bertrand;
JelInková, Eva;
Oost, Bernard A.van;
Monnens, Leo A.H.;
Smeets, Hubert J.M.

Publication type:

Article

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 309

By:

Nakao, Mltsuyoshl;
Sutcliffe, James S.;
Durtschl, Becky;
Mutlrangura, Aplwat;
Ledbetter, David H.;
Beaudet, Arthur L.

Publication type:

Article

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 273

By:

Smahl, A.;
Hyden-Granskog, C.;
Peterlin, B.;
Vabres, P.;
Heuertz, S.;
Fulchlgnoni-Lataud, M.C.;
Dahl, N.;
Labrune, P.;
Marec, B.Le;
PIussan, C.;
Taleb, A.;
Koskul, H.von;
Hors-Cayla, M.C.

Publication type:

Article

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 237

By:

Eng, Charis;
SmIth, Darrin P.;
MullIgan, Lois M.;
Nagal, Maria A.;
Healey, Catherine S.;
Ponder, Margaret A.;
Gardner, Emily;
Scheumann, Georg F.W.;
Jackson, CharIes E.;
Tunnacllffe, Alan;
Ponder, Bruce A.J.

Publication type:

Article

An explanation for the constitutive exon 9 cassette splicing of the DMD gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 295

By:

Reiss, Jochen;
Rininsland, Frauke

Publication type:

Article

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 285

By:

Fougerousse, Francoise;
Broux, Odile;
Richard, Isabelle;
Allamand, Valérie;
Souza, Anete Perelra de;
Bourg, Nathalie;
Brenguler, Lydle;
Devaud, Catherine;
Pasturaud, Patricia;
Roudaut, Carinne;
Chiannilkulchai, Nuchanard;
Hillaire, Dominique;
Bui, Hung;
Chumakov, Ilya;
Welssenbach, Jean;
Cherif, Dorra;
Cohen, Daniel;
S.Beckmann, Jacques

Publication type:

Article