Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 11

Results: 19

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 773, doi. 10.1038/sj.ejhg.5200866

By:

Dobson-Stone, C;
Danek, A;
Rampoldi, L;
Hardie, R J;
Chalmers, R M;
Wood, N W;
Bohlega, S;
Dotti, M T;
Federico, A;
Shizuka, M;
Tanaka, M;
Watanabe, M;
Ikeda, Y;
Brin, M;
Goldfarb, L G;
Karp, B I;
Mohiddin, S;
Fananapazir, L;
Storch, A

Publication type:

Article

Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 682, doi. 10.1038/sj.ejhg.5200859

By:

Kaati, G;
Bygren, L O;
Edvinsson, S

Publication type:

Article

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 694, doi. 10.1038/sj.ejhg.5200867

By:

Velissariou, Voula;
Antoniadi, Thalia;
Gyftodimou, Jolanda;
Bakou, Katerina;
Grigoriadou, Maria;
Christopoulou, Stavroula;
Hatzipouliou, Athina;
Donoghue, Jackie;
Karatzis, Panagiotis;
Katsarou, Efstathia;
Petersen, Michael B

Publication type:

Article

CFTR gene mutations in sarcoidosis.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 729

By:

Schürmann, Manfred;
Albrecht, Melanie;
Schwinger, Eberhard;
Stuhrmann, Manfred

Publication type:

Article

Cardiovascular Genetics for Clinicians.

Published in:

2002

By:

Humpries, Steve E

Publication type:

Book Review

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 733

By:

Cavé-Riant, Florence;
Denier, Christian;
Labauge, Pierre;
Cécillon, Michaelle;
Maciazek, Jacqueline;
Joutel, Anne;
Laberge-le Couteulx, Sophie;
Tournier-Lasserve, Elisabeth

Publication type:

Article

Prenatal testing for Huntington's disease: a European collaborative study.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 689, doi. 10.1038/sj.ejhg.5200871

By:

Simpson, Sheila A;
Zoeteweij, Moniek W;
Nys, Kurt;
Harper, Peter;
Dürr, Alexandra;
Jacopini, Gioia;
Yapijakis, Christos;
Evers-Kiebooms, Gerry

Publication type:

Article

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 741, doi. 10.1038/sj.ejhg.5200872

By:

Kabaeva, Zhyldyz T;
Perrot, Andreas;
Wolter, Bastian;
Dietz, Rainer;
Cardim, Nuno;
Correia, João Martins;
Schulte, Hagen D;
Aldashev, Almaz A;
Mirrakhimov, Mirsaid M;
Osterziel, Karl Josef

Publication type:

Article

Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 749, doi. 10.1038/sj.ejhg.5200873

By:

O'Dell, Sandra D;
Syddall, Holly E;
Sayer, Avan Aihie;
Cooper, Cyrus;
Fall, Caroline H D;
Dennison, Elaine M;
Phillips, David I W;
Gaunt, Tom R;
Briggs, Patricia J;
Day, Ian N M

Publication type:

Article

Detection of putative functional angiotensinogen (AGT) gene variants controlling plasma AGT levels by combined segregation-linkage analysis.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 715, doi. 10.1038/sj.ejhg.5200874

By:

Brand, Eva;
Chatelain, Nathalie;
Paillard, Françoise;
Tiret, Laurence;
Visvikis, Sophie;
Lathrop, Mark;
Soubrier, Florent;
Demenais, Florence

Publication type:

Article

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 753, doi. 10.1038/sj.ejhg.5200875

By:

Felder, Bärbel;
Stegmann, Karolin;
Schultealbert, Almut;
Geller, Frank;
Strehl, Elisabeth;
Ermert, August;
Koch, Manuela C

Publication type:

Article

Marfan syndrome in the third Millennium.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 673, doi. 10.1038/sj.ejhg.5200876

By:

Collod-Béroud, Gwenaëlle;
Boileau, Catherine

Publication type:

Article

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 757, doi. 10.1038/sj.ejhg.5200877

By:

Vervoort, Virginie S;
Smith, Richard J H;
O'Brien, Jane;
Schroer, Richard;
Abbott, Albert;
Stevenson, Roger E;
Schwartz, Charles E

Publication type:

Article

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879

By:

Faivre, Laurence;
Gosset, Philippe;
Cormier-Daire, Valérie;
Odent, Sylvie;
Amiel, Jeanne;
Giurgea, Irina;
Nassogne, Marie-Cécile;
Pasquier, Laurent;
Munnich, Arnold;
Romana, Serge;
Prieur, Marguerite;
Vekemans, Michel;
de Blois, Marie-Christine;
Turleau, Catherine

Publication type:

Article

Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 724, doi. 10.1038/sj.ejhg.5200880

By:

Dagan, Efrat;
Friedman, Eitan;
Paperna, Tamar;
Carmi, Nirit;
Gershoni-Baruch, Ruth

Publication type:

Article

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 767, doi. 10.1038/sj.ejhg.5200881

By:

Shaw, Marie A;
Chiurazzi, Pietro;
Romain, Dennis R;
Neri, Giovanni;
Gécz, Jozef

Publication type:

Article

An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 707, doi. 10.1038/sj.ejhg.5200882

By:

Joyce, Christine A;
Dennis, Nicholas R;
Howard, Francis;
Davis, Louisa M;
Thomas, N Simon

Publication type:

Article

Diagnosis of Hb-pathies.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 672, doi. 10.1038/sj.ejhg.5200885

By:

Giordano, P C

Publication type:

Article

Time to take epigenetic inheritance seriously.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 669, doi. 10.1038/sj.ejhg.5200901

By:

Pembrey, Marcus E

Publication type:

Article