Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 4

Results: 10

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 555, doi. 10.1093/hmg/ddi052

By:

Shaag, Avraham;
Walsh, Tom;
Renbaum, Paul;
Kirchhoff, Tomas;
Nafa, Khedoudja;
Shiovitz, Stacey;
Mandell, Jessica B.;
Welcsh, Piri;
Lee, Ming K.;
Ellis, Nathan;
Offit, Kenneth;
Levy-Lahad, Ephrat;
King, Mary-Claire

Publication type:

Article

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 543, doi. 10.1093/hmg/ddi051

By:

Soares, Miguel L.;
Coelho, Teresa;
Sousa, Alda;
Batalov, Serge;
Conceição, Isabel;
Sales-Luís, Maria L.;
Ritchie, Marylyn D.;
Williams, Scott M.;
Nievergelt, Caroline M.;
Schork, Nicholas J.;
Saraiva, Maria João;
Buxbaum, Joel N.

Publication type:

Article

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 535, doi. 10.1093/hmg/ddi050

By:

Kurotaki, Naohiro;
Stankiewicz, Pawel;
Wakui, Keiko;
Niikawa, Norio;
Lupski, James R.

Publication type:

Article

SMC1 involvement in fragile site expression.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 525, doi. 10.1093/hmg/ddi049

By:

Musio, Antonio;
Montagna, Cristina;
Mariani, Tullio;
Tilenni, Manuela;
Focarelli, Maria Luisa;
Brait, Lorenzo;
Indino, Esterina;
Benedetti, Pier Alberto;
Chessa, Luciana;
Albertini, Alberto;
Ried, Thomas;
Vezzoni, Paolo

Publication type:

Article

CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 513, doi. 10.1093/hmg/ddi048

By:

Banting, Graham S.;
Barak, Orr;
Ames, Tanya M.;
Burnham, Amanda C.;
Kardel, Melanie D.;
Cooch, Neil S.;
Davidson, Courtney E.;
Godbout, Roseline;
McDermid, Heather E.;
Shiekhattar, Ramin

Publication type:

Article

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 503, doi. 10.1093/hmg/ddi047

By:

Cerrato, Flavia;
Sparago, Angela;
Matteo, Ines Di;
Zou, Xiangang;
Dean, Wendy;
Sasaki, Hiroyuki;
Smith, Paul;
Genesio, Rita;
Bruggemann, Marianne;
Reik, Wolf;
Riccio, Andrea

Publication type:

Article

Onset and inheritance of abnormal epigenetic regulation in hematopoietic cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 493, doi. 10.1093/hmg/ddi046

By:

Bottardi, Stefania;
Bourgoin, Vincent;
Pierre-Charles, Natacha;
Milot, Eric

Publication type:

Article

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 483, doi. 10.1093/hmg/ddi045

By:

Samaco, Rodney C.;
Hogart, Amber;
LaSalle, Janine M.

Publication type:

Article

Involvement of multiple developmental genes on chromosome 1p in lung tumorigenesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 475, doi. 10.1093/hmg/ddi043

By:

Garnis, Cathie;
Campbell, Jennifer;
Davies, Jonathan J.;
MacAulay, Calum;
Lam, Stephen;
Lam, Wan L.

Publication type:

Article

Friedreich ataxia: the oxidative stress paradox.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 463, doi. 10.1093/hmg/ddi042

By:

Seznec, Hervé;
Simon, Delphine;
Bouton, Cécile;
Reutenauer, Laurence;
Hertzog, Ariane;
Golik, Pawel;
Procaccio, Vincent;
Patel, Manisha;
Drapier, Jean-Claude;
Koenig, Michel;
Puccio, Hélène

Publication type:

Article