Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 7

Results: 68

The state of DNA methylation in the promoter and exon 1 regions of the human gene for the interleukin-2 receptor α chain (IL-2Rα) in various cell types.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 993

By:

Behn-Krappa, Annett;
Doerfler, Walter

Publication type:

Article

An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 989

By:

H.Gutmann, David;
B.Andersen, Lone;
L.Cole, Jeffery;
Swaroop, Manju;
S.Collins, Francis

Publication type:

Article

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 981

By:

Upadhyaya, M.;
Jardine, P.;
Maynard, J.;
Farnham, J.;
Sarfarazi, M.;
Wijmenga, C.;
Hewitt, J.E.;
Frants, R.;
Harper, P.S.;
Lunt, P.W.

Publication type:

Article

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 975

By:

Blanquet, Véronique;
Turleau, Catherine;
Gross, Marie-Sylvie;
Goossens, Michel;
Besmond, Claude

Publication type:

Article

Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 969

By:

M.McConville, Carmel;
J.Byrd, Philip;
J.Ambrose, Helen;
Stankovic, Tanja;
Ziv, Yael;
Bar-Shira, Anat;
Vanagaite, Lina;
Rotman, Galit;
Shiloh, Yosef;
T.Gillett, Godfrey;
H.Riley, John;
R.Taylor, A.Malcolm

Publication type:

Article

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 961

By:

Pereira, Lygia;
D'Alessio, Marina;
Ramirez, Francesco;
R.Lynch, Jennifer;
Sykes, Bryan;
Pangilinan, Theresa;
Bonadio, Jeffrey

Publication type:

Article

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 953

By:

Pasterls, N.German;
J.Trask, Barbara;
Sheldon, Susan;
L.Gorskl, Jerome

Publication type:

Article

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 947

By:

Wapenaar, Martin C.;
Bassl, Maria T.;
Schaefer, Laura;
Grillo, Alessandra;
Ferrero, Giovanni B.;
Chlnault, A.Craig;
Ballabio, Andrea;
Zoghbi, Huda Y.

Publication type:

Article

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 941

By:

Labelle, Yves;
Phaneuf, Daniel;
Leclerc, Barbara;
M.Tanguay, Robert

Publication type:

Article

Molecular definition of the extreme size polymorphism in apolipoprotein(a).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 933

By:

Lackner, Carolin;
Cohen, Jonathan C.;
Hobbs, Helen H.

Publication type:

Article

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 925

By:

Paul, Philip;
Letteboer, Tom;
Gelbert, Larry;
Groden, Joanna;
White, Ray;
Coppes, Max J.

Publication type:

Article

Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 883

By:

Lepplg, Kathleen A.;
Brown, Carolyn J.;
Bressler, Steven L.;
Gustashaw, Karen;
Pagon, Roberta A.;
Willard, Huntington F.;
Disteche, Christine M.

Publication type:

Article

PAX6 mutations in aniridia.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 915

By:

M.Hanson, Isabel;
Seawright, Anne;
Hardman, Karen;
Hodgson, Shirley;
Zaletayev, Dmitri;
Fekete, Gyorgy;
Heyningen, Veronica van

Publication type:

Article

A microsatellite-based index map of human chromosome 11.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 909

By:

Litt, M.;
Kramer, P.;
Hauge, X.Y.;
Weber, J.L.;
Wang, Z.;
Wilkle, P.J.;
Holt, M.S.;
Mishra, S.;
Donis-Keller, H.;
Warnich, L.;
Retief, A.E.;
Jones, C.;
Welssenbach, J.

Publication type:

Article

A transcription map of the region containing the Huntington disease gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 901

By:

Rommens, J.M.;
Lin, B.;
Hutchinson, G.B.;
Andrew, S.E.;
Goldberg, Y.P.;
Glaves, M.L.;
Graham, R.;
Lal, V.;
McArthur, J.;
Nasir, J.;
Theilmann, J.;
McDonald, H.;
Kalchman, M.;
Clarke, L.A.;
Schappert, K.;
Hayden, M.R.

Publication type:

Article

Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 889

By:

Zuo, Jlan;
Robblns, Carolyn;
Bahariloo, Slamak;
Cox, David R.;
Myers, Richard M.

Publication type:

Article

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 921

By:

Greger, Valerie;
Woolf, Elizabeth;
Lalande, Marc

Publication type:

Article

Mapping the Von Hippel — Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 879

By:

Richards, Frances M.;
Phipps, Maude E.;
Latlf, Farida;
Yao, Masahlro;
Crossey, Paul A.;
Foster, Kelth;
Llnehan, W. Marston;
Affara, Nabeel A.;
Lerman, Michael I.;
Zbar, Berton;
Ferguson-Smith, Malcolm A.;
Maher, Eamonn R.

Publication type:

Article

Exclusion of the involvement of all known Retinitis Pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 875

By:

Kumar-Singh, Rajendra;
Farrar, G.Jane;
Mansergh, Fiona;
Kenna, Paul;
Bhattacharya, Shoml;
Gal, Andreas;
Humphries, Peter

Publication type:

Article

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 869

By:

Olson, Timothy M.;
Michels, Virginia V.;
Lindor, Noralane M.;
Pastores, Gregory M.;
Weber, JamesL.;
Schaid, DanielJ.;
Driscoll, David J.;
Feldt, Robert H.;
Thibodeau, Stephen N.

Publication type:

Article

Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 863

By:

lles, David E.;
Segers, Bart;
Sengers, Robert C.A.;
Monsieurs, Koen;
Heytens, Luc;
Halsall, P.Jane;
Hopkins, Philip M.;
Ellis, F.Richard;
Hall-Curran, Julle L.;
Stewart, Alistair D.;
Berend Wieringa

Publication type:

Article

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 857

By:

Sudbrak, R.;
Golla, A.;
Hogan, K.;
Powers, P.;
Gregg, R.;
Chesne, I.Du;
Lehmann-Horn, F.;
Deufel, T.

Publication type:

Article

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 851

By:

Donis-Keller, Helen;
Dou, Shenshen;
Chi, David;
Carlson, Katrin M.;
Toshima, Koji;
Lairmore, Terry C.;
Howe, James R.;
Moley, Jeffrey F.;
Goodfellow, Paul;
Wells, Samuel A.

Publication type:

Article

Malignant hyperthermia hots up!

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 849

By:

Johnson, Keith

Publication type:

Article

Positional cloning uncovers a new old oncogene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 847

By:

Frischauf, Anna-Maria

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 7, p. 1095
Publication type:: Article

New human DNA polymorphisms submitted to the genome data base.

Published in:: Human Molecular Genetics, 1993, v. 2, n. 7, p. 1089
Publication type:: Article

Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1087

By:

D.Briggs, Michael;
H.Cohn, Daniel

Publication type:

Article

Tetranucleotide repeat polymorphism at the D8S344 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1087

By:

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

Publication type:

Article

A CA dinucleotide polymorphism at D17S107 (17q12–q24).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1086

By:

Barker, David F.;
Nguyen, Kim;
Fain, Pamela R.

Publication type:

Article

An EcoRI polymorphism in the AML1 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1084

By:

Birn, Debbi J.;
McKeithan, Timothy W.;
Nucifora, Giuseppina

Publication type:

Article

Two consecutive dinucleotide repeats constitute an informative marker at the α1-antichymotrypsin (AACT) locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085

By:

Byth, Barbara C.;
Cox, Diane W.

Publication type:

Article

Dinucleotide repeat polymorphism at the D6S348 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1085

By:

Kansara, M.S.;
Athwal, R.S.

Publication type:

Article

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1084

By:

Watkins, H.C.;
MacRae, C.A.;
Thierfelder, L.;
McKenna, W.J.;
Seidman, C.E.;
Seidman, J.G.

Publication type:

Article

A compound nucleotide repeat in the neurofibro-matosis (NF1) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1083

By:

Andersen, Lone B.;
Tarlé, Susan A.;
Marchuk, Douglas A.;
Legius, Eric;
Collins, Francis S.

Publication type:

Article

A Pstl polymorphism in the 3′ end of the human type IV collagen alpha 3 chain (COL4A3) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1086

By:

Delbridge, M.L.;
Savige, J.A.

Publication type:

Article

A microsatellite polymorphism at the THRB locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1083

By:

Brett, Peter M.;
Melmer, Georg;
Robertson, Mary M.;
Gurling, Hugh M.D.

Publication type:

Article

Dinucleotide repeat polymorphism at the locus D13S231.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1082

By:

Saksova, Ludmila;
Hennies, Hans-Christian;
Reis, André

Publication type:

Article

Banl and Pvull polymorphisms in intron 2 of selection E (SELE).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1082

By:

Powers, Patricia K.;
Hixson, James E.

Publication type:

Article

Dinucleotide repeat polymorphism at the D11S982E locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1081

By:

Xiao, Hong;
lde, Susan E.;
Merril, Carl R.;
Polymeropoulos, Mihael H.

Publication type:

Article

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1081

By:

Dollfus, H.;
Rozet, J. -M.;
Musarella, M. A.;
Kaplan, J.;
Munnich, A.

Publication type:

Article

Human Bg/ll/Bc/l RFLP recognized by 3' region of human MAP 2 gene probe.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1080

By:

Ding, Yuan;
Reed, Danielle R.;
Price, R.Arlen

Publication type:

Article

Tetranucleotide repeat polymorphism at D17S846 maps within 40 kb of GAS at 17q12–q22.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1080

By:

Flejter, Wendy L.;
Kukowska-Latallo, Jolanta F.;
Kiousis, Sam;
Chandrasekharappa, Settara C.;
King, Stephanie E.;
Chamberlain, Jeffrey S.

Publication type:

Article

A Taql site identifies the A allele at the ACP1 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1079

By:

Sensabaugh, G.F.;
Lazaruk, K.Ayer

Publication type:

Article

The detection of a VNTR at the Huntington disease genetic marker D4S10.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1079

By:

Cariock, Leon;
Vo, Trieu

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS1146 locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1078

By:

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

Publication type:

Article

A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1067

By:

Cheadle, Jeremy P.;
Al-Jader, Layla N.;
Meredith, Allson L.

Publication type:

Article

A new mutation of exon 5 of the P53 gene in breast cancer.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1075

By:

Carrere, N.;
Leblanc, R.M.;
Begueret, J.;
Blouin, P.;
Cheyrou, A.

Publication type:

Article

A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1073

By:

Igarashi, Yutaka;
Ogawa, Masamichi;
Kamijo, Takashi;
Iwatani, Noritaka;
Nishi, Yoshikazu;
Kohno, Hitoshi;
Masumura, Takehiro;
Koga, Junichi

Publication type:

Article

Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 7, p. 1071

By:

Chevalier-Porst, F.;
Mathieu, M.;
Bozon, D.

Publication type:

Article