Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 9

Results: 52

The density of transcriptional elements in promoter and non-promoter sequences.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1449

By:

Prestrldge, Dan S.;
Burks, Christian

Publication type:

Article

Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1443

By:

Yorlfujl, Tohru;
W.Wilson, Raymond;
Beaudet, Arthur L.

Publication type:

Article

Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1437

By:

Carrera, Paola;
Cordera, Renzo;
Ferrarl, Maurizio;
Cremonesl, Laura;
Taramelli, Roberto;
Andraghettl, Gabriella;
Carduccl, Caria;
Dozio, Nlcoletta;
Pozza, Guido;
Taylor, Simeon I.;
Mlcossl, Plero;
Barbettl, Fabrizlo

Publication type:

Article

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1429

By:

Richards, R.I.;
Holman, K.;
Yu, S.;
Sutherland, G.R.

Publication type:

Article

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1423

By:

Azlbi, Kemal;
Bachner, Luclen;
S.Beckmann, Jacques;
Matsumura, Kllchlro;
Hamouda, Elhadl;
Chaouch, Mallka;
Chaouch, Athmane;
Alt-Ouarab, Rachlda;
Vlgnal, Alaln;
Welssenbach, Jean;
Vinet, Marie-Claude;
Leturcq, France;
Collln, Huguette;
M.S.Tomé, Fernando;
Reghis, Abderrezak;
Fardeau, Michel;
P.Campbell, Kevin;
Kaplan, Jean-Claude

Publication type:

Article

Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1413

By:

Winderickx, Joris;
Battlsti, Laurie;
Hlbiya, Yuko;
G.Motulsky, Amo;
Deeb, Samir S.

Publication type:

Article

Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1407

By:

Llnnenbach, Alban J.;
Pressler, Lee B.;
A.Seng, Beth;
Klmmel, Barry S.;
E.Tomaszewskl, John;
Malkowlcz, S.Bruce

Publication type:

Article

Allelic association and linkage studies in Wilson disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1401

By:

Thomas, Gordon R.;
Roberts, Eve A.;
Rosales, Theodore O.;
Moroz, Stanley P.;
Lambert, Marie A.;
Wong, Lawrence T.K.;
Cox, Dlane W.

Publication type:

Article

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1397

By:

Anvret, M.;
Ahlberg, G.;
Grandell, U.;
Hedberg, B.;
Johnson, K.;
Edstrōm, L.

Publication type:

Article

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1389

By:

Gecz, J.;
Vlllard, L.;
Lossl, A.M.;
Mlllasseau, P.;
Djaball, M.;
Fontes, M.

Publication type:

Article

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1383

By:

Jodice, Caria;
Frontali, Marina;
Persichetti, Francesca;
Novelletto, Andrea;
Pandolfo, Massimo;
Spadaro, Maria;
Glunti, Paola;
Schinala, Gluseppe;
Lulli, Patrizia;
Malaspina, Patrizia;
Plasmati, Rosaria;
Tola, Rosaria;
Antonelli, Antonella;
Donato, Stefano Dl;
Morocutti, Cristoforo;
Welssenbach, Jean;
Cann, Howard M.;
Terrenato, Luclano

Publication type:

Article

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1377

By:

Glenn, Christopher C.;
Nicholls, Robert D.;
Robinson, Wendy P.;
Saitoh, Shinjl;
Nllkawa, Norlo;
Schlnzel, Albert;
Horsthemke, Bernhard;
Driscoll, Daniel J.

Publication type:

Article

The human D11S554 locus: four distinct families of repeat pattern alleles at one locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1373

By:

Adams, Mala;
Urquhart, Andy;
Kimpton, Colln;
Gill, Peter

Publication type:

Article

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1369

By:

Hayasaka, Kiyoshi;
Takada, Goro;
V.Ionasescu, Victor

Publication type:

Article

Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1361

By:

Xle, Ya-Gang;
Han, Fei-Yu;
Peyrard, Myrlam;
Ruttledge, Martin H.;
Fransson, Ingegerd;
DeJong, Pleter;
Collins, John;
Dunham, Ian;
Nordenakjöld, Magnus;
P.Dumanski, Jan

Publication type:

Article

Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1355

By:

Takamlya, Osamu;
Kemball-Cook, Geoffrey;
Martin, David M.A.;
Cooper, David N.;
von Felten, Arthur;
Melll, Esther;
Hann, Ian;
Prangnell, Dennls R.;
Lumley, Hllary;
Tuddenham, Edward G.D.;
McVey, John H.

Publication type:

Article

A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1349

By:

Heine, Roland;
Plka, Ursula;
Lehmann-Horn, Frank

Publication type:

Article

Dinucleotide repeat polymorphism at the KCNA5 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1512

By:

Phromchotikul, T.;
Browne, D.L.;
Curran, M.E.;
Keating, M.T.;
Litt, M.

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S320 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1512

By:

Rlley, Robyn;
Nelson, Lesa;
Lu, Jun;
Robertson, Margaret;
Ballard, Linda;
Connolly, Judy;
Ward, Kenneth

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 9, p. 1521
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 9, p. 1515
Publication type:: Article

Dinucleotide repeat polymorphism in the promoter region of neurotrophin-3 gene (NT3).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1511

By:

Hattori, M.;
Kuwata, S.;
Fukuda, R.;
Sasaki, T.;
Shibata, Y.;
Kazamatsuri, H.;
Nanko, S.

Publication type:

Article

Trinucleotide repeat polymorphism at D6S366.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1511

By:

W.Panzer, Shawn;
Hammond, Holly A.;
Stephens, Lisa;
Chal, Andrew;
Caskey, C.Thomas

Publication type:

Article

HindIII polymorphism in the BCL6 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1513

By:

W.Baron, Beverly;
Billstrand, Christine;
Madronero, Luisa;
McKeithan, Timothy W.

Publication type:

Article

An EcoRI polymorphism within the dipeptidyl peptidase IV (DPPIV) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1507

By:

Abbott, C.A.;
Koorey, D.;
McCaughan, G.W.

Publication type:

Article

Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11–p13.3.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1506

By:

Shen, Y.;
Holman, K.;
Doggett, N.A.;
Callen, D.F.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1505

By:

Shen, Y.;
Holman, K.;
Doggett, N.A.;
Callen, D.F.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

An Mspl polymorphism at the D7S599E locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1510

By:

Hampson, R.M.;
Black, G.C.M.;
Leung, L.S.;
Jones, S.E.;
Neal, M.J.

Publication type:

Article

Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1504

By:

Shen, Y.;
Holman, K.;
Doggett, N.A.;
Callen, D.F.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1510

By:

Rider, Sue H.;
P.Monaco, Anthony

Publication type:

Article

Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1503

By:

Wehnert, M.;
Reiner, O.;
Caskey, C.T.

Publication type:

Article

p53 Gain-of-function mutation in codon 175 is a rare event in human breast cancer.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1501

By:

Runnebaum, I.B.;
Kieback, D.G.;
Tong, X.-W.;
Krelenberg, R.

Publication type:

Article

A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1499

By:

Spritz, R.A.;
Holmes, Stuart A.;
Berg, Susan Z.;
Nordlund, James J.;
Fukal, Kazuyoshl

Publication type:

Article

A novel splicing abnormality in a Japanese patient with Gaucher's disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1497

By:

Ohshlma, Toshio;
Sasaki, Masayukl;
Matsuzaka, Tetsuo;
Sakuragawa, Norio

Publication type:

Article

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1495

By:

Todd, David J.;
Hughes, Anne E.;
Ennls, Kevin T.;
Ward, Alana J.;
Burrows, Desmond;
C.Nevin, Norman

Publication type:

Article

EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1509

By:

Gibson, Rachel A.;
Savola, Anna;
Buchwald, Manuel;
G.Mathew, Christopher

Publication type:

Article

An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1509

By:

Dittrich, Bärbel;
Groß, Stephanie;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

Dinucleotide repeat polymorphism in the inter-feron-gamma (IFNG) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1508

By:

Rulz-Linares, A.

Publication type:

Article

Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1491

By:

Zhong, Jun;
Spiegel, Roland;
Boltshauser, Eugen;
Schmid, Werner

Publication type:

Article

A new (old) deletion in the choroideremia gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1489

By:

Pascal, O.;
Donnelly, P.;
Fouanon, C.;
Herbert, O.;
Roux, M.G.Le;
Molsan, J.P.

Publication type:

Article

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1487

By:

Morell, Robert;
Friedman, Thomas B.;
Asher, James H.

Publication type:

Article

Trinucleotide repeat polymorphism at DXS101.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1508

By:

Allen, R.Cutier;
Belmont, John W.

Publication type:

Article

A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1493

By:

Gossage, David L.;
Norby-Slycord, Colette J.;
Hershfied, Michael S.;
Markert, M.Loulse

Publication type:

Article

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1483

By:

Stevanin, Glovanni;
Chnelweiss, Hervé;
Guern, Eric Le;
Ravise, Nicola;
Dürr, Alexandra;
Penet, Christlane;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Single-step screening method for the most common mutations in familial adenomatous polyposis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1481

By:

Friedl, Waltraut;
Mandl, Marion;
Sengteller, Marlies

Publication type:

Article

Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1477

By:

Cancel, Géraldine;
Khatl, Catherine;
Stevanin, Glovanni;
Pages, Jean-Christophe;
Agid, Yves;
Brice, Alexis;
M.Cann, Howard

Publication type:

Article

Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1475

By:

Nørremølle, Anne;
Rless, Olaf;
Eppien, Jörg T.;
Fenger, Kirsten;
Hasholt, Lis;
Sørensen, Sven Asger

Publication type:

Article

Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1471

By:

S.Scott, Hamish;
V.Nelson, Paul;
Litjens, Tom;
J.Hopwood, John;
Morris, C.Phillip

Publication type:

Article

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1467

By:

Zühike, Christine;
Rless, Olaf;
Schröder, Kirsten;
Sledlaczck, Ina;
T.Epplen, Jörg;
Engel, Wolfgang;
Thles, Ulrike

Publication type:

Article

Somatic mutations of the APC gene in precancerous lesion of the stomach.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1463

By:

Nakatsuru, Shulchl;
Yanaglsawa, Akio;
Furukawa, Yolchi;
Ichll, Shigetoshl;
Kato, Yo;
Nakamura, Yusuke;
Horil, Akira

Publication type:

Article