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

Results: 10

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
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
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
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
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
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
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
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