Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 3

Results: 41

AK1 detects a VNTR locus in the pseudoautosomal region.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 339

By:

Klink, A.;
Wapenaar, M.;
Ommen, G.J.B. van;
Rappold, G.

Publication type:

Article

PA2.1 detects a Taql polymorphism in the pseudoautosomal region.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 339

By:

Henke, A.;
Rappold, G.

Publication type:

Article

A new polymorphic probe on chromosome 22q (XD6) (D22S313).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 338

By:

Cardoso, H.;
Mori, M.A.;
Crispino, B.;
Mimbacas, A.;
Uriarte, R.

Publication type:

Article

An Mspl polymorphism in the hyman serotonin receptor gene (HTR2): detection by DGGE and RFLP analysis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 338

By:

Warren, James T.;
Peacock, Michael L.;
Rodriguez, Luis C.;
Fink, John K.

Publication type:

Article

Microsatellite repeat polymorphism at the D13S197 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 337

By:

Hong, Hee-Kyung;
Giorda, Roberto;
Yu, Ling Mei;
Trucco, Massimo;
Chakravarti, Aravinda

Publication type:

Article

An Mbol RFLP in the human erythrocyte surface protein band 3-like 1 gene (EPB3L1) on chromosome 7q35–7q36.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 337

By:

Showe, Michael K.;
Williams, Donna;
Showe, Louise C.

Publication type:

Article

Dinucleotide repeat polymorphism at the D22S268 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 336

By:

Marineau, Claude;
Baron, Chantal;
Delattre, Olivier;
Zucman, Jessica;
Thomas, Gilles;
Rouleau, Guy A.

Publication type:

Article

D11S970 CATT polymorphism (RC29) located near the MEN1 locus at 11q13.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 336

By:

Taggart, R. Thomas;
Krebs, Christopher J.;
Mullins, Chadwick M.;
Horton, Joseph H.;
Paradee, William J.;
Slusher, Rodney

Publication type:

Article

A centromeric microsatellite probe on chromosome 3: LIB 9-95ca (D3S1338).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 335

By:

Schmidt, Laura;
Li, Hua;
Duh, Fuh-Mei C.;
Wei, Ming-Hui;
Lerman, Michael I.;
Zbar, Berton;
Tory, Kalman

Publication type:

Article

VNTR polymorphism for the human dopamine transporter gene (DAT1).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 335

By:

Byerley, William;
Hoff, Mark;
Holik, John;
Caron, Marc G.;
Giros, Bruno

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 3, p. 341
Publication type:: Article

High frequencies in African and non-African populations of independent mutation in the mannose binding protein gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 342

By:

Lipscombe, R.J.;
Sumiya, M.;
Hill, A.V.S.;
Lau, Y.L.;
Levinsky, R.J.;
Summerfield, J.A.;
Turner, M.W.

Publication type:

Article

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 334

By:

Verderio, E.;
Cavadini, P.;
Pandolfo, M.;
DiDonato, S.;
Taroni, F.

Publication type:

Article

Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 333

By:

Jansen, Gert;
Coerwinkel-Driessen, Marga;
Nillesen, Willy;
Brunner, Han;
Wieringa, Bé

Publication type:

Article

pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 332

By:

Lia, Kristen M.;
Bruns, Gail A.P.;
LeBeau, Michelle M.;
Silverman, Gary A.

Publication type:

Article

Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 331

By:

Silverman, Gary A.;
Jenkins, Richard;
Bruns, Gail A.P.;
LeBeau, Michelle M.

Publication type:

Article

DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 327

By:

Walker, J.I.H.;
Layton, D.M.;
Bellingham, A.J.;
Morgan, M.J.;
Faik, P.

Publication type:

Article

Molecular characterization of the H319Q galactosemia mutation.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 325

By:

K.V.Reichardt, Juergen;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 323

By:

Dvořáková, Dana;
Fajkusová, Lenka

Publication type:

Article

No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 321

By:

Carter, D.;
Campion, D.;
d'Amato, Th.;
Jay, M.;
Brice, A.;
Bellis, M.;
Mallet, J.;
Agid, Y.

Publication type:

Article

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 317

By:

Cheadle, Jeremy P.;
AI-Jader, Layla N.;
Meredith, Alison L.

Publication type:

Article

Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 315

By:

Glavac, Damjan;
Ravnik-Glavac, Metka;
Dean, Michael

Publication type:

Article

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 311

By:

Prior, Thomas W.;
Papp, Audrey C.;
Snyder, Pamela J.;
Burghes, Arthur H.M.;
Sedra, Mary S.;
Western, Lorraine M.;
Bartello, Claire;
Mendell, Jerry R.

Publication type:

Article

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 305

By:

Snell, R.G.;
Doucette-Stamm, L.A.;
Gillespie, K.M.;
Taylor, S.A.M.;
Riba, L.;
Bates, G.P.;
Altherr, M.R.;
MacDonald, M.E.;
Gusella, J.F.;
Wasmuth, J.J.;
Lehrach, H.;
Housman, D.E.;
Harper, P.S.;
Shaw, D.J.

Publication type:

Article

Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 299

By:

Mahadevan, Mani S.;
Amemiya, Chris;
Jansen, Gert;
Sabourin, Luc;
Baird, Stephen;
Neville, Catherine E.;
Wormskamp, Nicole;
Segers, Bart;
Batzer, Mark;
Lamerdin, Jane;
de Jong, Peter;
Wieringa, Bé;
Korneluk, Robert G.

Publication type:

Article

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 293

By:

Gostout, Bobbie;
Vielhaber, Erica;
Ketterling, Rhett P.;
Yoon, Hong-Sup;
Bottema, Cynthia D.K.;
Kasper, Carol K.;
Koerper, Marion A.;
Sommer, Steve S.

Publication type:

Article

Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 289

By:

Koorey, David J.;
Bishop, G.Alexander;
McCaughan, Geoffrey W.

Publication type:

Article

Multiple forms of the APC gene transcripts and their tissue-specific expression.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 283

By:

Horii, Akira;
Nakatsuru, Shuichi;
Ichii, Shigetoshi;
Nagase, Hiroki;
Nakamura, Yusuke

Publication type:

Article

Genetic linkage between Von Hippel—Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 279

By:

Crossey, P.A.;
Maher, E.R.;
Jones, M.H.;
Richards, F.M.;
Latif, F.;
Phipps, M.E.;
Lush, M.;
Foster, K.;
Tory, K.;
Green, J.S.;
Oostra, B.;
Yates, J.R.W.;
Linehan, W.M.;
Affara, N.A.;
Lerman, M.;
Zbar, B.;
Nakamura, Y.;
Ferguson-Smith, M.A.

Publication type:

Article

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 273

By:

Greenspan, Daniel S.

Publication type:

Article

Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 265

By:

Colleaux, Laurence;
Rougeulle, Claire;
Avner, Philip;
Dujon, Bernard

Publication type:

Article

Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 259

By:

Little, Melissa H.;
Williamson, Kathleen A.;
Mannens, Marcel;
Kelsey, Anna;
Gosden, Christine;
Hastie, Nicholas D.;
Heyningen, Veronica van

Publication type:

Article

Point mutation in a 3′ flanking sequence of the alpha-1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 253

By:

Morgan, Kevin;
Scobie, Graeme;
Kalsheker, Noor A.

Publication type:

Article

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 247

By:

Mole, Sara E.;
Mulligan, Lois M.;
Healey, Catherine S.;
Ponder, Bruce A.J.;
Tunnacliffe, Alan

Publication type:

Article

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 241

By:

Gardner, Emily;
Papi, Laura;
Easton, Douglas F.;
Cummings, Tim;
Jackson, Charles E.;
Kaplan, Michael;
Love, Donald R.;
Mole, Sara E.;
Moore, Julie K.;
Mulligan, Lois M.;
Norum, Robert A.;
Ponder, Margaret A.;
Reichlin, Seymour;
Stall, Glenn;
Telenius, Håkan;
Telenius-Berg, Margareta;
Tunnacliffe, Alan;
Ponder, Bruce A.J.

Publication type:

Article

The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 237

By:

Yon, Jeffrey;
Jones, Tania;
Garson, Ken;
Sheer, Denise;
Fried, Mike

Publication type:

Article

Alternative splicing in the first nucleotide binding fold of CFTR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 231

By:

Will, Katrin;
Stuhrmann, Manfred;
Dean, Michael;
Schmidtke, Jörg

Publication type:

Article

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 225

By:

Strong, Theresa V.;
Wilkinson, Daniel J.;
Monsoura, Monique K.;
Devor, Daniel C.;
Henze, Karlin;
Yang, Yiping;
Wilson, James M.;
Cohn, Jonathan A.;
Dawson, David C.;
Frizzell, Raymond A.;
Collins, Francis S.

Publication type:

Article

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 219

By:

Tizzano, Eduardo F.;
Chitayat, David;
Buchwald, Manuel

Publication type:

Article

Expression of the cystic fibrosis gene in human foetal tissues.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 213

By:

Trezise, Ann E.O.;
Chambers, Julie A.;
Wardle, Catherine J.;
Gould, Stephen;
Harris, Ann

Publication type:

Article

Gene therapy for cystic fibrosis—Where and When?

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 211

By:

Porteous, David J.;
Dorin, Julia R.

Publication type:

Article