Works matching IS 09646906 AND DT 1992 AND VI 1 AND IP 7

Results: 33

A new VNTR-type RFLP probe (ChdTC-114) on chromosome 20p (D20S72).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 554

By:

Honma, Masamitsu;
Mitani, Khonosuke;
Mizusawa, Hiroshi;
Sofuni, Toshio;
Muramatsu, Masami;
Kominami, Ryo

Publication type:

Article

A new VNTR-type RFLP probe (λTM-18) on chromosome 1 (D1S157).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 554

By:

Honma, Masamitsu;
Mitani, Khonosuke;
Mizusawa, Hiroshi;
Sofuni, Toshio;
Muramatsu, Masami;
Kominami, Ryo

Publication type:

Article

Dinucleotide repeat polymorphism in the human thyroid hormone receptor α gene (THRA1) on chromosome 17.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 553

By:

Sakurai, A.;
Bell, G.I.;
DeGroot, L.J.

Publication type:

Article

Dinucleotide repeat polymorphism at the D18S19 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 553

By:

W.Bare, John;
Rothman, AIana;
Epstein, Ervin

Publication type:

Article

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 552

By:

Velasco, Eladio;
Sanchez-Corral, Pilar;
Moreno, Felipe;
de Cordoba, Santiago Rodriguez

Publication type:

Article

An EcoRI RFLP at the human insulin-like growth factor binding protein 2 gene (IGFBP2).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 552

By:

Ehrenborg, Ewa;
Larsson, Catharina

Publication type:

Article

A chromosome 19 CA-dinucleotide repeat polymorphism.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 551

By:

Phillips, K.L.;
Garbutt, J.H.;
Roses, A.D.;
Lee, J.E.

Publication type:

Article

An Sphl polymorphism at the ZNF22 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 551

By:

Mulligan, L.M.;
Gardner, E.;
Ponder, B.A.J.

Publication type:

Article

An Sphl polymorphism at the vinculin locus (VCL).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 550

By:

Mulligan, L.M.;
Gardner, E.;
Ponder, B.A.J.

Publication type:

Article

Taql polymorphisms at the annexin VIII locus (ANX8).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 550

By:

Chambers, J.A.;
Gardner, E.;
Hauptmann, R.;
Ponder, B.A.J.;
Mulligan, L.M.

Publication type:

Article

Dinucleotide repeat polymorphism at the D9SI47E locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 549

By:

Polymeropoulos, Mihael H.;
Xiao, Hong;
Merril, Carl R.

Publication type:

Article

Dinucleotide repeat polymorphism at the D7S476 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 549

By:

Xiao, Hong;
Merril, Carl R.;
Polymeropoulos, Mihael H.

Publication type:

Article

Erratum.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 558

By:

Tamaki, K.;
Monckton, D.G.;
MacLeod, A.;
Neil, D.L.;
Allen, M.;
Jeffreys, A.J.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1992, v. 1, n. 7, p. 557
Publication type:: Article

A new VNTR-type RELP probe (ChdTC-15) on chromosome 12 (D12S65).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 555

By:

Honma, Masamitsu;
Mitani, Khonosuke;
Mizusawa, Hiroshi;
Sofuni, Toshio;
Muramatsu, Masami;
Kominami, Ryo

Publication type:

Article

Dinucleotide repeat polymorphisms at the D11S439 and HBB loci.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 548

By:

Hauge, X. Y.;
Litt, R.;
Litt, M.

Publication type:

Article

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 547

By:

Rosen, D.R.;
Sapp, P.C.;
O'Regan, J.;
Horvitz, H.R.;
Donaldson, D.H.;
Nussbaum, C.;
Gusella, J.F.;
Haines, J.L.;
Pestka, S.;
Jung, V.;
Patterson, D.;
Brown, R.H.

Publication type:

Article

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 545

By:

Kälin, Nanette;
Dörk, Thilo;
Bozon, Dominique;
Tümmler, Burkhard

Publication type:

Article

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 542

By:

Hamosh, Ada;
Rosenstein, Beryl J.;
Cutting, Garry R.

Publication type:

Article

Mismatch PCR: a rapid method to screen for the Pro → Leu mutation in the lipoprotein lipase (LPL) gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 541

By:

M.Bijvoet, Saskia;
R.Hayden, Michael

Publication type:

Article

Oligonucleotide probes for the analysis of specific repetitive DNA sequences by fluorescence in situ hybridization.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 535

By:

Matera, A. Gregory;
Ward, David C.

Publication type:

Article

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 529

By:

Kaneko, Kiyotoshi;
Kobayashi, Hisashi;
Onodera, Osamu;
Miyatake, Tadashi;
Tsuji, Shoji

Publication type:

Article

The genomic structure of the human skeletal muscle sodium channel gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 521

By:

I.McClatchey, Andrea;
S.Lin, Carol;
Wang, Jianzhou;
P.Hoffman, Eric;
Rojas, Cecilia;
F.Gusella, James

Publication type:

Article

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 517

By:

Nigro, Vincenzo;
Politano, Luisa;
Nigro, Giovanni;
Romano, Sergio Colonna;
Molinari, Anna Maria;
Puca, Giovanni Alfredo

Publication type:

Article

Segregation of the fragile X mutation from an affected male to his normal daughter.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 511

By:

Willems, Patrick J.;
Roy, Bernadette Van;
De Boulle, Kristel;
Vits, Lieve;
Reyniers, Edwin;
Beck, Olivia;
Dumon, Jan E.;
Verkerk, Annemieke;
Oostra, Ben

Publication type:

Article

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 505

By:

Górecki, Dariusz C.;
Monaco, Anthony P.;
Derry, Jonathan M. J.;
Walker, Ann P.;
Barnard, Eric A.;
Barnard, Pene J.

Publication type:

Article

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 497

By:

Batch, J. A.;
Williams, D. M.;
Davies, H. R.;
Brown, B. D.;
Evans, B. A. J.;
Hughes, I. A.;
Patterson, M. N.

Publication type:

Article

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 491

By:

Kumar, Shrawan;
Kimberling, William J.;
Kenyon, Judy B.;
Smith, Richard J. H.;
Marres, Henri A. M.;
Cremers, Cor W. R. J.

Publication type:

Article

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 483

By:

Tümer, Zeynep;
Chelly, Jamel;
Tommerup, Niels;
Ishikawa-Brush, Yumiko;
Tønnesen, Tønne;
Monaco, Anthony P.;
Horn, Nina

Publication type:

Article

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 475

By:

Christiano, Angela M.;
Rosenbaum, Louise M.;
Chung-Honet, Linda C.;
Parente, M. Gabriela;
Woodley, David T.;
Pan, Te-Cheng;
Zhang, Rui Zhu;
Chu, Mon-Li;
Burgeson, Robert E.;
Uitto, Jouni

Publication type:

Article

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 467

By:

Shelbourne, Peggy;
Winqvist, Robert;
Kunert, Erich;
Davies, June;
Leisti, Jaakko;
Thiele, Hannelore;
Bachmann, Hans;
Buxton, Jessica;
Williamson, Bob;
Johnson, Keith

Publication type:

Article

Cystic fibrosis mice have arrived!

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 459

By:

Higgins, Christopher F.;
Trezise, Ann E. O.

Publication type:

Article

Mutations in the candidate gene for Norrie disease.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 461

By:

Berger, Wolfgang;
de Pol, Dorien van;
Warburg, Mette;
Gal, Andreas;
Bleeker-Wagemakers, Liesbeth;
de Silva, Harendra;
Meindl, Alfons;
Meitinger, Thomas;
Cremers, Frans;
Ropers, Hans-Hilger

Publication type:

Article