Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 4

Results: 10

Disease-associated mutations in conserved residues of ALK-1 kinase domain.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 279, doi. 10.1038/sj.ejhg.5200919

By:

Abdalla, Salma A;
Cymerman, Urszula;
Johnson, Rachel M;
Deber, Charles M;
Letarte, Michelle

Publication type:

Article

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956

By:

Conti, Emanuela;
Grifone, Nicoletta;
Sarkozy, Anna;
Tandoi, Caterina;
Marino, Bruno;
Digilio, Maria Cristina;
Mingarelli, Rita;
Pizzuti, Antonio;
Dallapiccola, Bruno

Publication type:

Article

PNA on human sperm: a new approach for in situ aneuploidy estimation.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 337, doi. 10.1038/sj.ejhg.5200958

By:

Pellestor, Franck;
Andreo, Brigitte;
Taneja, Krihan;
Williams, Brett

Publication type:

Article

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 352, doi. 10.1038/sj.ejhg.5200959

By:

Raynaud, Martine;
Dessay, Sabine;
Ronce, Nathalie;
Opitz, John;
Pembrey, Marcus;
Romano, Corrado;
Moraine, Claude;
Briault, Sylvain

Publication type:

Article

Apparent intrachromosomal exchange on the human Y chromosome explained by population history.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 304, doi. 10.1038/sj.ejhg.5200960

By:

Kittler, Ralf;
Erler, Axel;
Brauer, Silke;
Stoneking, Mark;
Kayser, Manfred

Publication type:

Article

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 288, doi. 10.1038/sj.ejhg.5200961

By:

Yakobson, Emanuel;
Eisenberg, Shlomit;
Isacson, Ruth;
Halle, David;
Levy-Lahad, Efrat;
Catane, Raphael;
Safro, Mark;
Sobolev, Vladimir;
Huot, Thomas;
Peters, Gordon;
Ruiz, Anna;
Malvehy, Josep;
Puig, Suzana;
Chompret, Agnes;
Avril, Marie-Fracoise;
Shafir, Raphael;
Peretz, Hava;
Paillerets, Brigitte Bressac-de

Publication type:

Article

Chromosome instability and nibrin protein variants in NBS heterozygotes.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 297, doi. 10.1038/sj.ejhg.5200962

By:

Tanzarella, Caterina;
Antoccia, Antonio;
Spadoni, Emanuela;
Masi, Alessandra di;
Pecile, Vanna;
Demori, Eliana;
Varon, Raymonda;
Marseglia, Gian Luigi;
Tiepolo, Luciano;
Maraschio, Paola

Publication type:

Article

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200963

By:

Kamnasaran, Deepak;
O'Brien, Patricia C;
Zackai, Elaine H;
Muenke, Maximilian;
Ferguson-Smith, Malcolm A;
Cox, Diane W

Publication type:

Article

Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 342, doi. 10.1038/sj.ejhg.5200964

By:

Robinson, R L;
Anetseder, M J;
Brancadoro, V;
van Broekhoven, C;
Carsana, A;
Censier, K;
Fortunato, G;
Girard, T;
Heytens, L;
Hopkins, P M;
Jurkat-Rott, K;
Klinger, W;
Kozak-Ribbens, G;
Krivosic, R;
Monnier, N;
Nivoche, Y;
Olthoff, D;
Rueffert, H;
Sorrentino, V

Publication type:

Article

Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200965

By:

Pujol, Aida;
Boiso, Irene;
Benet, Jordi;
Veiga, Anna;
Durban, Merce;
Campillo, Mercedes;
Egozcue, Josep;
Navarro, Joaquima

Publication type:

Article