Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 4

Results: 41

Identification of 12 novel mutations in the CFTR gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 496

By:

Audrézet, M.P.;
Mercier, B.;
Guillermit, H.;
Quéré, I.;
Verlingue, C.;
Rault, G.;
Férec, C.

Publication type:

Article

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 496

By:

Akli, S.;
Chomel, J.C.;
Lacorte, J.M.;
Bachner, L.;
Kahn, A.;
Poenaru, L.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 4, p. 495
Publication type:: Article

Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 493

By:

Sleddens, H.F.B.M.;
Oostra, B.A.;
Brinkmann, A.O.;
Trapman, J.

Publication type:

Article

A Pvull-polymorphism within the AXL gene on chromosome 19q13.1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 492

By:

Linz, Ute;
Schleithoff, Lothar;
Janssen, Johannes W.G.;
Bartram, Claus R.;
MüIIer, C.R.

Publication type:

Article

Dinucleotide repeat polymorphism at the D11S480 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 492

By:

Moffatt, M.F.

Publication type:

Article

A polymorphic dinucleotide repeat at the ZNF22 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 491

By:

Love, D.R.;
Gardner, E.;
Ponder, B.A.J.

Publication type:

Article

A polymorphic dinucleotide repeat at the D10S141 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 491

By:

Love, D.R.;
Gardner, E.;
Ponder, B.A.J.

Publication type:

Article

Dinucleotide repeat polymorphisms at the D2S108 and D2S109 loci.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 490

By:

Todd, S.;
Naylor, S. L.

Publication type:

Article

Dinucleotide repeat polymorphism at the D14S99E locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 490

By:

Polymeropoulos, Mihael H.;
Xiao, Hong;
Ide, Susan E.;
Merril, Carl R.

Publication type:

Article

Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 489

By:

Tagle, Danilo A.;
Blanchard-McQuate, Kristina L.;
Valdes, John;
Castilla, Lucio;
MacDonald, Marcy E.;
Gusella, James F.;
Collins, Francis S.

Publication type:

Article

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 488

By:

Andresen, Brage S.;
Kølvraa, Steen;
Bross, Peter;
Bolund, Lars;
Curtis, Diana;
Eiberg, Hans;
Zhang, Zhifang;
Kelly, Daniel P.;
Strauss, Arnold W.;
Gregersen, Niels

Publication type:

Article

Apal, Bsml, EcoRV and Taql polymorphisms at the human vitamin D receptor gene locus in Caucasians, Blacks and Asians.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 487

By:

Hustmyer, Frank G.;
DeLuca, Hector F.;
Peacock, Munro

Publication type:

Article

A polymorphic Msel site 5' to the factor IX gene varies among ethnic groups.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 486

By:

Weinmann, Ann F.;
Reiner, Alexander P.;
Thompson, Arthur R.

Publication type:

Article

Lack of independence between five DNA polymorphisms in the NF1 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 485

By:

Messiaen, Ludwine;
De Bie, Sylvia;
Moens, Tanya;
Enden, Apollonia Van den;
Leroy, Jules

Publication type:

Article

A simple and rapid PCR based method for AGUFin determination.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 484

By:

Nilssen, Øivind;
Tollersrud, Ole Kristian;
Borud, Olav;
Tranebjærg, Lisbeth

Publication type:

Article

Detection of polymorphisms in the estradiol 17β-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11–q21.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 479

By:

Normand, Thierry;
Narod, Steven;
Labrie, Fernand;
Simard, Jacques

Publication type:

Article

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 475

By:

Hewett, D.R.;
Lynch, J.R.;
Smith, R.;
Sykes, B.C.

Publication type:

Article

A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 473

By:

Takakubo, Fumie;
Thorburn, David R.;
Dahl, Hans-Henrik M.

Publication type:

Article

Loss of the ‘azoospermia factor’ (AZF) on Yq in man is not associated with loss of HYA.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 469

By:

Simpson, Elizabeth;
Chandler, Phillip;
Goulmy, Els;
Ma, Kun;
Hargreave, Timothy B.;
Chandley, Ann C.

Publication type:

Article

Pelizaeus — Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 465

By:

Pham-Dinh, Danielle;
Boespflug-Tanguy, Odile;
Mimault, Corinne;
Cavagna, Annie;
Giraud, Geneviève;
Leberre, Gérard;
Lemarec, Bernard;
Dautigny, André

Publication type:

Article

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 461

By:

Leahey, Ann-Marie;
Charnas, Lawrence R.;
Nussbaum, Robert L.

Publication type:

Article

Subtelomeric as well as telomeric sequences are lost from chromosomes in proliferating B lymphocytes.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 455

By:

Guerrini, Anna Maria;
Camponeschi, Barbara;
Ascenzioni, Fiorentina;
Piccolella, Enza;
Donini, Pierluigi

Publication type:

Article

Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 449

By:

Chun, Kathy;
MacKay, Neviana;
Petrova-Benedict, Roumyana;
Robinson, Brian H.

Publication type:

Article

Segregation of ΔF508 and normal CFTR alleles in human sperm.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 445

By:

Williams, Carolyn;
Davies, Derek;
Williamson, Robert

Publication type:

Article

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 439

By:

Rodenhiser, David I.;
Coulter-Mackie, Marion B.;
Singh, Shiva M.

Publication type:

Article

A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 431

By:

Mahtani, Melanie M.;
Willard, Huntington F.

Publication type:

Article

Fucosidosis: four new mutations and a new polymorphism.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 423

By:

Seo, Hee-Chan;
Willems, Patrick J.;
Kretz, Keith A.;
Martin, Brian M.;
O'Brien, John S.

Publication type:

Article

The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 417

By:

Smith, Matthijs J.;
Goodfellow, Paul J.;
Goodfellow, Peter N.

Publication type:

Article

A study of the origin of ‘shadow bands’ seen when typing dinucleotide repeat polymorphisms by the PCR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 411

By:

Hauge, X.Y.;
Litt, M.

Publication type:

Article

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 405

By:

lonasescu, Victor V.;
lonasescu, Rebecca;
Searby, Charles;
Barker, David F.

Publication type:

Article

Alternative splicing in the fragile X gene FMR1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 399

By:

Verkerk, Annemieke J.M.H.;
de Graaff, Esther;
De Boulle, Kristel;
Eichler, Evan E.;
Konecki, David S.;
Reyniers, Edwin;
Manca, Antonella;
Poustka, Annemarie;
Willems, Patrick J.;
Nelson, David L.;
Oostra, Ben A.

Publication type:

Article

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 393

By:

Costes, B.;
Girodon, E.;
Ghanem, N.;
Chassignol, M.;
Thuong, N.T.;
Dupret, D.;
Goossens, M.

Publication type:

Article

Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 385

By:

Bascom, Roger A.;
Schappert, Keith;
Mclnnes, Roderick R.

Publication type:

Article

A G → A substitution in an HNF I binding site in the human α-fetoprotein gene is associated with hereditary persistence of α-fetoprotein (HPAFP).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 379

By:

McVey, John H.;
Michaelides, Katerina;
Hansen, Linda P.;
Ferguson-Smith, Malcolm;
Tilghman, Shirley;
Krumlauf, Robb;
Tuddenham, Edward G.D.

Publication type:

Article

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 373

By:

Hardelin, Jean-Pierre;
Levilliers, Jacqueline;
Blanchard, Stéphane;
Carel, Jean-Claude;
Leutenegger, Marc;
Pinard-Bertelletto, Jean-Pierre;
Bouloux, Pierre;
Petit, Christine

Publication type:

Article

Genomic organization, chromosomal localization and promoter function of the human zinc-finger gene pAT133.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 367

By:

Holst, Corinna;
Skerka, Christine;
Lichter, Peter;
Bialonski, Alexandra;
Zipfel, Peter F.

Publication type:

Article

The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoforms.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 361

By:

Hoek, Ytje Y. van der;
Wittekoek, Marianne E.;
Beisiegel, Ulrike;
Kastelein, John J.P.;
Koschinsky, MarlysL.

Publication type:

Article

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 355

By:

Amselem, Serge;
Duquesnoy, Philippe;
Duriez, Bénédicte;
Dastot, Florence;
Sobrier, Marie-Laure;
Valleix, Sophie;
Goossens, Michel

Publication type:

Article

Exclusion of FAU as the Multiple Endocrine Neoplasia type 1 (MEN1) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 349

By:

Kas, Koen;
Weber, Günther;
Merregaert, Jozef;
Michiels, Luc;
Sandelin, Kerstin;
Skogseid, Britt;
Thompson, Norman;
Nordenskjöld, Magnus;
Larsson, Catharina;
Friedman, Eitan

Publication type:

Article

The Huntington disease gene—still a needle in a haystack?

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 343

By:

Bates, Gillian;
Lehrach, Hans

Publication type:

Article