Works matching IS 09646906 AND DT 1992 AND VI 1 AND IP 5

Results: 26

A Rsal polymorphism in the ERCC2 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 355

By:

von Deimling, A.;
von Deimling, F.;
Louis, D.N.;
Trofatter, J.;
Gusella, J.F.;
Seizinger, B.R.

Publication type:

Article

Dinucleotide repeat polymorphism at the GABAA receptor α5 (GABRA5) locus at chromosome 15q11-q13.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 348

By:

Glatt, Karen A.;
Sinnett, Daniel;
Lalande, Marc

Publication type:

Article

Improving the polymorphism content of the 3′ UTR of the human IGF2R gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 347

By:

Hol, F.A.;
Geurds, M.P.A.;
Hamel, B.C.J.;
Mariman, E.C.M.

Publication type:

Article

A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 345

By:

Saad, Fawzy A.;
Vitiello, Libero;
Merlini, Luciano;
Mostacciuolo, Maria L.;
Oliviero, Salvatore;
Danieli, Gian A.

Publication type:

Article

Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 341

By:

Johnson, P. H.;
Hopkinson, D. A.

Publication type:

Article

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 335

By:

Bunge, Susanna;
Steglich, Cordula;
Beck, Michael;
Rosenkranz, Walter;
Schwinger, Eberhard;
Hopwood, John J.;
Gal, Andreas

Publication type:

Article

The ‘colorizing’ of cytogenetics: is it ready for prime time?

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 297

By:

Ledbetter, David H.

Publication type:

Article

Isolation and mapping to 17p12 – 13 of the human homologous of the murine growth arrest specific Gas-3 gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 331

By:

Martinotti, Alessia;
Cariani, Claudia T.;
Melani, Cecilia;
Sozzi, Gabriella;
Spurr, N. K.;
Pierotti, Marco A.;
Colombo, Mario P.

Publication type:

Article

Isolation of human minisatellite loci detected by synthetic tandem repeat probes: direct comparison with cloned DNA fingerprinting probes.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 319

By:

Armour, John A. L.;
Vergnaud, Gilles;
Crosier, Moira;
Jeffreys, Alec J.

Publication type:

Article

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 315

By:

Tsukamoto, Kazuhiro;
Tohma, Takaya;
Ohta, Tohru;
Yamakawa, Kazuhiro;
Fukushima, Yoshimitsu;
Nakamura, Yusuke;
Niikawa, Norio

Publication type:

Article

Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 307

By:

Ried, Thomas;
Landes, Greg;
Dackowski, William;
Klinger, Katherine;
Ward, David C.

Publication type:

Article

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 301

By:

Baird, Paul N.;
Santos, Ana;
Groves, Natalie;
Jadresic, Lyda;
Cowell, John K.

Publication type:

Article

D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 325

By:

Steinlein, Ortrud;
Fischer, Christine;
Keil, Ralf;
Smigrodzki, Rafal;
Vogel, Friedrich

Publication type:

Article

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome—proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 293

By:

Hastie, Nicholas D.

Publication type:

Article

Two Taql polymorphisms at the human PGM1 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 354

By:

Hollyoake, M.;
Putt, W.;
Edwards, Y.H.;
Whitehouse, D.B.

Publication type:

Article

Dinucleotide repeat polymorphism in the human estrogen receptor (ESR) gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 354

By:

Senno, L.del;
Aguiari, G.L.;
Piva, R.

Publication type:

Article

Dinucleotide repeat polymorphism at the human gene for the brainderived neurotrophic factor (BDNF).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 353

By:

Pröschel, Michael;
Saunders, A.;
Roses, A.D.;
Möller, C.R.

Publication type:

Article

Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR product.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 353

By:

Wilson, A.G.;
di Giovine, F.S.;
Blakemore, A.I.F.;
Duff, G.W.

Publication type:

Article

Two Mspl polymorphisms within the APC gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 352

By:

Cottrell, S.;
Bodmer, W.F.

Publication type:

Article

SAM 1.1 and JOSH 4.4: two RFLPs within the human DCC gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 352

By:

Simons, J.W.;
Oliner, J.D.;
Cho, K.R.;
Kinzler, K.W.;
Vogelstein, B.

Publication type:

Article

Additional polymorphism at a CHR 9 reference locus (D9S12).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 351

By:

Yuille, M.A.R.;
Goudie, D.R.;
Affara, N.A.;
Ferguson-Smith, M.A.

Publication type:

Article

An Mspl RFLP in the human ARNT gene, encoding a subunit of the nuclear form of the Ah (dioxin) receptor.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 351

By:

Johnson, Barton S.;
Brooks, Barbara A.;
Reyes, Herminio;
Hoffman, Emily C.;
Hankinson, Oliver

Publication type:

Article

Taql polymorphism at the alanine: glyoxylate aminotransferase (AGXT) gene locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 350

By:

Rumsby, G.;
Jones, R.;
Danpure, C. J.;
Samuell, C. T.

Publication type:

Article

Dinucleotide repeat polymorphism at the D21S65 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 350

By:

Goto, J.;
Tassone, F.;
Demczuk, S.;
Gardiner, K.;
Figlewicz, D.A.;
Khodr, N.;
Rouleau, G.A.

Publication type:

Article

A two-allele Pstl RFLP for the alpha-1C adrenergic receptor gene (ADRA1C).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 349

By:

Hoehe, Margret R.;
Berrettini, Wade H.;
Schwinn, Debra A.;
Hsieh, Wang-Ting

Publication type:

Article

Dinucleotide repeat polymorphism at the D4S251 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 349

By:

Petrukhin, Konstantin E.;
Modyanov, Nikolai N.;
Gilliam, T. Conrad

Publication type:

Article