Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 3

Results: 12

A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 263, doi. 10.1007/s00439-002-0773-8

By:

Coon, Hilary;
Eckfeldt, John H.;
Leppert, Mark F.;
Myers, Richard H.;
Arnett, Donna K.;
Heiss, Gerardo;
Province, Michael A.;
Hunt, Steven C.

Publication type:

Article

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 247, doi. 10.1007/s00439-002-0788-1

By:

Scotet, Virginie;
Gillet, Dominique;
Duguépéroux, Ingrid;
Audrézet, Marie-Pierre;
Bellis, Gil;
Garnier, Bénédicte;
Roussey, Michel;
Rault, Gilles;
Parent, Philippe;
De Braekeleer, Marc;
Férec, Claude;
Bretagne, Réseau Mucoviscidose;
de Loire, Pays

Publication type:

Article

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 290, doi. 10.1007/s00439-002-0787-2

By:

Fisher, Andrew M.;
Thomas, Simon N.;
Cockwell, Annette;
Stecko, Olga;
Kerr, Bronwyn;
Temple, Karen I.;
Clayton, Peter

Publication type:

Article

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 255, doi. 10.1007/s00439-002-0755-x

By:

Moulard, Bruno;
Genton, Pierre;
Grid, Djamel;
Jeanpierre, Marc;
Ouazzani, Réda;
Mrabet, Amel;
Morris, Mike;
LeGuern, Eric;
Dravet, Charlotte;
Mauguière, François;
Utermann, Barbara;
Baldy-Moulinier, Michel;
Belaidi, Halima;
Bertran, Françoise;
Biraben, Arnaud;
Ali Chérif, André;
Chkili, Taieb;
Crespel, Arielle;
Darcel, Françoise;
Dulac, Olivier

Publication type:

Article

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter).

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 242, doi. 10.1007/s00439-002-0767-6

By:

Fernandez, Rosa;
Marchal, Juan A.;
Sanchez, Antonio;
Pasaro, Eduardo

Publication type:

Article

Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 299, doi. 10.1007/s00439-002-0779-2

By:

Trinh, Binh N.;
Ong, Choon-Nam;
Coetzee, Gerhard A.;
Yu, Mimi C.;
Laird, Peter W.

Publication type:

Article

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 284, doi. 10.1007/s00439-002-0789-0

By:

Paoloni-Giacobino, Ariane;
Rey-Berthod, Claudine;
Couturier, Alexia;
Antonarakis, Stylianos E.;
Hutter, Pierre

Publication type:

Article

Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 297, doi. 10.1007/s00439-002-0764-9

By:

Bonke, Benno;
Tibben, Aad;
Lindhout, Dick;
Stijnen, Theo

Publication type:

Article

Complex segregation analysis of hypospadias.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 231, doi. 10.1007/s00439-002-0799-y

By:

Fredell, Louise;
Iselius, Lennart;
Collins, Andy;
Hansson, Einar;
Holmner, Staffan;
Lundquist, Lars;
Läckgren, Göran;
Pedersen, Jörgen;
Stenberg, Arne;
Westbacke, Gunnar;
Nordenskjöld, Agneta

Publication type:

Article

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 278, doi. 10.1007/s00439-002-0772-9

By:

Queipo, Gloria;
Zenteno, Juan;
Peńa, Rocço;
Nieto, Karen;
Radillo, Alejandro;
Dorantes, Luis;
Eraña, Luis;
Lieberman, Esther;
Söderlund, Daniela;
Jiménez, Ana;
Ramón, Guillermo;
Kofman-Alfaro, Susana

Publication type:

Article

A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 270, doi. 10.1007/s00439-002-0801-8

By:

Goedde, Rene;
Sawcer, Stephen;
Boehringer, Stefan;
Miterski, Bianca;
Sindern, Eckhart;
Haupts, Michael;
Schimrigk, Sebastian;
Compston, Alastair;
Epplen, Joerg T.

Publication type:

Article

Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6

By:

Gimelli, Giorgio;
Giglio, Sabrina;
Zuffardi, Orsetta;
Alhonen, Leena;
Suppola, Suvikki;
Cusano, Roberto;
Lo Nigro, Cristiana;
Gatti, Rosanna;
Ravazzolo, Roberto;
Seri, Marco

Publication type:

Article