Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 5

Results: 45

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 5, p. 631
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 5, p. 621
Publication type:: Article

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 620

By:

Tupler, R.;
Rogaeva, E.;
Vaula, G.;
Mortilla, M.;
Lukiw, W.;
Liang, Y.;
Hancock, R.;
Rogaev, E.;
George-Hyslop, P.St

Publication type:

Article

Rapid detection of the hypertension-associated Met→ Thr allele of the human angiotensinogen gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 609

By:

Russ, Andreas P.;
Maerz, Winfried;
Ruzicka, Viktor;
Stein, Ulrike;
Groβ, Werner

Publication type:

Article

Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 607

By:

Fairweather, Nicholas;
Chelly, Jamel;
Monaco, Anthony P.

Publication type:

Article

Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 605

By:

Kleiman, Sandra;
Li, Jia;
Schwartz, Gerard;
Kimura, A.E.;
Eisensmith, Randy C.;
Woo, Savio L.C.;
Shiloh, Yosef

Publication type:

Article

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 601

By:

Nichols, B.E.;
Drack, A.V.;
Vandenburgh, K.;
Kimura, A.E.;
Sheffield, V.C.;
Stone, E.M.

Publication type:

Article

Five novel factor IX mutations in unrelated hemophilia B families.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 599

By:

Chen, Shi-Han;
Schoof, Jon M.;
Scott, C.Ronald;
Thompson, Arthur R.

Publication type:

Article

A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 597

By:

Ichii, Shigetoshi;
Nagase, Hiroki;
Mori, Takahiro;
Baba, Shozo;
Nakamura, Yusuke

Publication type:

Article

An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 595

By:

Boye, E.;
Flinter, F.A.;
Bobrow, M.;
Harris, A.

Publication type:

Article

Genomic organization of exons 22 to 25 of the dystrophin gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 593

By:

Bebchuk, Karen G.;
Bulman, Dennis E.;
D'Souza, Vinita N.;
Worton, Ronald G.;
Ray, Peter N.

Publication type:

Article

Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 591

By:

Fernie, B.A.;
Delbridge, G.;
Hobart, M.J.

Publication type:

Article

X-linked liver glycogenosis: localization and isolation of a candidate gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 583

By:

Hendrickx, Jan;
Coucke, Paul;
Bossuyt, Paul;
Wauters, Jan;
Raeymaekers, Peter;
Marchau, Fabienne;
Smit, G. Peter A.;
Stolte, Irene;
Sardharwalla, I.B.;
Berthelot, Jacques;
Van den Bergh, Inge;
Berger, Ruud;
Van Broeckhoven, Christine;
Baussan, Christiane;
Wapenaar, Martin;
John, Fernandes;
Willems, Patrick J.

Publication type:

Article

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 577

By:

Goltsov, Alexei A.;
Eisensmith, Randy C.;
Naughton, Eileen R.;
Jin, Li;
Charkraborty, Ranajit;
Woo, Savio L.C.

Publication type:

Article

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 571

By:

Gasparini, Paolo;
Borgato, Lorena;
Piperno, Alberto;
Girelli, Domenico;
Olivieri, Oliviero;
Gottardi, Enrico;
Roetto, Antonella;
Dianzani, Irma;
Fargion, Siliva;
Schinaia, Giuseppe;
Cappellini, Maria D.;
Gandini, Giorgio;
Pignatti, PierFranco;
Fiorelli, Gemino;
De Sandre, Giorgio;
Camaschella, Clara

Publication type:

Article

Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 563

By:

Soussi-Yanicostas, Nadia;
Whalen, Robert G.;
Petit, Christine

Publication type:

Article

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 557

By:

Passos-Bueno, M.Rita;
Wijmenga, Cisca;
Takata, Reinaldo E.;
Marie, Sueli K.N.;
Vainzof, Mariz;
Pavanello, Rita C.;
Hewitt, Jane E.;
Bakker, Egbert;
Carvalho, Alzira;
Akiyama, Jane;
Frants, Rune R.;
Zatz, Mayana

Publication type:

Article

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 549

By:

Weksberg, R.;
Teshima, I.;
Williams, B.R.G.;
Greenberg, C.R.;
Pueschel, S.M.;
Chernos, J.E.;
Fowlow, S.B.;
Hoyme, E.;
Anderson, I.J.;
Whiteman, D.A.H.;
Fisher, N.;
Squire, J.

Publication type:

Article

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 545

By:

Bernardi, F.;
Patracchini, P.;
Gemmati, D.;
Pinotti, M.;
Schwienbacher, C.;
Ballerini, G.;
Marchetti, G.

Publication type:

Article

Deletions in the prion protein gene are not associated with CJD.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 541

By:

Palmer, Mark S.;
Mahal, Sukhvir P.;
Campbell, Tracy A.;
Hill, Andrew F.;
Sidle, Katie C.L.;
Laplanche, Jean-Louis;
Collinge, John

Publication type:

Article

Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 535

By:

Lamour, Valérie;
Lévy, Nicolas;
Desmaze, Chantal;
Baude, Véronique;
Lécluse, Yann;
Delattre, Olivier;
Bernheim, Alain;
Thomas, Gilles;
Aurias, Alain;
Lipinski, Marc

Publication type:

Article

Quantification of tRNA3243 point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 525

By:

Suomalainen, Anu;
Majander, Anna;
Pihko, Helena;
Peltonen, Leena;
Syvänen, Ann-Christine

Publication type:

Article

Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 521

By:

Tinsley, Jonathon M.;
Blake, Derek J.;
Davies, Kay E.

Publication type:

Article

Allele-specific MVR-PCR analysis at minisatellite D1S8.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 513

By:

Monckton, Darren G.;
Tamaki, Keiji;
MacLeod, Annette;
Neil, David L.;
Jeffreys, Alec J.

Publication type:

Article

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 505

By:

Lengauer, Christoph;
Speicher, Michael;
Popp, Susanne;
Jauch, Anna;
Taniwaki, Masafumi;
Nagaraja, Ramaiah;
Riethman, Harold C.;
Donis-Keller, Helen;
D'Urso, Michele;
Schlessinger, David;
Cremer, Thomas

Publication type:

Article

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 499

By:

Wedell, Anna;
Luthman, Holger

Publication type:

Article

The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 497

By:

Willard, Huntington F.

Publication type:

Article

Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 619

By:

McDonald, M.T.;
Papenberg, K.A.;
Glatfelter, A.A.;
Vander-Stoep, J.L.;
Marchuk, D.A.

Publication type:

Article

A dinucleotide repeat polymorphism in the gene for the γ subunit of the human Fcε receptors (FLER16).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 619

By:

Brini, Anna T.;
Schmidt, Laura;
Zbar, Berton;
Kinet, Jean-Pierre

Publication type:

Article

Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 618

By:

Perry, D.J.

Publication type:

Article

Frequencies of human keratin 10 alleles.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 618

By:

Mischke, Dietmar

Publication type:

Article

A new probe detecting HLA-8 gene polymorphism.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 617

By:

Alizadeh, M.;
Semana, G.;
Fauchet, R.

Publication type:

Article

Dinculeotide repeat polymorphism in the HOX4E locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 617

By:

Rosen, D.R.;
Brown, R.H.

Publication type:

Article

A complex dinucleotide repeat polymorphism in the human NaKATPass alpha subunit (ATP1A2) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 616

By:

Lim, Lionel C.C.;
Gill, Michael

Publication type:

Article

Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 616

By:

Goto, J.;
Gnrike, A.;
Khodr, N.;
Kaufer, E.;
Krizus, A.;
Figlewicz, D.A.;
Rouleau, G.A.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S307 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 615

By:

Ward, Kenneth;
Riley, Robyn;
Lu, Jun;
Robertson, Margaret;
Nelson, Lesa

Publication type:

Article

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 615

By:

Carrozzo, Romeo;
Ledbetter, David H.

Publication type:

Article

Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 614

By:

Graw, Sharon L.;
Kwiatkowski, David J.

Publication type:

Article

Five sequence tagged sites for human chromosome band 11 q23.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 614

By:

Perry, H.;
Cerretti, D.P.;
Langdon, W.Y.;
Tunnacliffe, M.

Publication type:

Article

Dinucleotide repeat polymorphism at D21S49 (21 q22.3).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 613

By:

Bespalova, I.N.;
Kiousis, S.;
Chamberliain, J.S.;
Burmeister, M.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS556 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 613

By:

Thiselton, D.L.;
Kamakari, S.;
Curtis, A.R.J.;
Coleman, M.P.;
Davies, K.E.;
Lindsay, S.;
Bhattacharya, S.

Publication type:

Article

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 612

By:

Weber, C.;
Outdet, C.;
Johnson, S.;
Pilia, G.;
Schlessinger, D.;
Hanauer, A.

Publication type:

Article

Dinucleotide repeat polymorphism at Xq26.1 (DXS1114).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 612

By:

Weber, C.;
Outdet, C.;
Johnson, S.;
Pillia, G.;
Schlessinger, D.;
Hanauer, A.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS1111 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 611

By:

Browne, D.L.;
McMilin, K.D.;
Litt, M.

Publication type:

Article

Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 5, p. 611

By:

Overbeck, Larry D.;
Weston, Michael D.;
Kimberling, William J.;
Evans, Glen A.

Publication type:

Article