Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 12

Results: 15

Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1241, doi. 10.1002/humu.20587

By:

Frank, Jorge;
van Steensel, Maurice A.M.;
van Geel, Michel

Publication type:

Article

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1225, doi. 10.1002/humu.20583

By:

Ting, Jason C.;
Roberson, Elisha D.O.;
Miller, Nathaniel D.;
Lysholm-Bernacchi, Alana;
Stephan, Dietrich A.;
Capone, George T.;
Ruczinski, Ingo;
Thomas, George H.;
Pevsner, Jonathan

Publication type:

Article

Chasing genes for mood disorders and schizophrenia in genetically isolated populations.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1156, doi. 10.1002/humu.20582

By:

Venken, Tine;
Del-Favero, Jurgen

Publication type:

Article

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1198, doi. 10.1002/humu.20591

By:

Sheen, Campbell R.;
Jewell, Ursula R.;
Morris, Christine M.;
Brennan, Stephen O.;
Férec, Claude;
George, Peter M.;
Smith, Mark P.;
Chen, Jian-Min

Publication type:

Article

Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1245, doi. 10.1002/humu.9512

By:

Gámez-Pozo, Angelo;
Palacios, Itziar;
Kontic, Milica;
Menéndez, Ibis;
Camino, Isabel;
García-Miguel, Purificación;
Abelairas, José;
Pestaña, Ángel;
Alonso, Javier

Publication type:

Article

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1189, doi. 10.1002/humu.20594

By:

Bendavid, Claude;
Dubourg, Christèle;
Pasquier, Laurent;
Gicquel, Isabelle;
Le Gallou, Simon;
Mottier, Stéphanie;
Durou, Marie-Renée;
Henry, Catherine;
Odent, Sylvie;
David, Véronique

Publication type:

Article

The UK National Cancer Research Institute (NCRI) Informatics Initiative: promoting partnership in cancer research.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1151, doi. 10.1002/humu.20584

By:

Reddington, Fiona;
Ajose-Adeogun, Abi;
Clark, Robin

Publication type:

Article

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1207, doi. 10.1002/humu.20599

By:

Ramus, Susan J.;
Harrington, Patricia A.;
Pye, Carole;
DiCioccio, Richard A.;
Cox, Mark J.;
Garlinghouse-Jones, Kim;
Oakley-Girvan, Ingrid;
Jacobs, Ian J.;
Hardy, Richard M.;
Whittemore, Alice S.;
Ponder, Bruce A.J.;
Piver, M. Steven;
Pharoah, Paul D.P.;
Gayther, Simon A.

Publication type:

Article

Sequence variation database for the Wilson disease copper transporter, ATP7B.

Published in:

2007

By:

Kenney, Susan M.;
Cox, Diane W.

Publication type:

Other

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1216, doi. 10.1002/humu.20600

By:

Ennis, S.;
Murray, A.;
Brightwell, G.;
Morton, N.E.;
Jacobs, P.A.

Publication type:

Article

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1183, doi. 10.1002/humu.20611

By:

Moncla, Anne;
Missirian, Chantal;
Cacciagli, Pierre;
Balzamo, Eve;
Legeai-Mallet, Laurence;
Jouve, Jean-Luc;
Chabrol, Brigitte;
Le Merrer, Martine;
Plessis, Ghislaine;
Villard, Laurent;
Philip, Nicole

Publication type:

Article

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1236, doi. 10.1002/humu.20592

By:

Bayrakli, Fatih;
Bilguvar, Kaya;
Mason, Christopher E.;
DiLuna, Michael L.;
Bayri, Yasar;
Gungor, Levent;
Terzi, Murat;
Mane, Shrikant M.;
Lifton, Richard P.;
State, Matthew W.;
Gunel, Murat

Publication type:

Article

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1245, doi. 10.1002/humu.9513

By:

Gerber, Sylvie;
Hanein, Sylvain;
Perrault, Isabelle;
Delphin, Nathalie;
Aboussair, Nisrine;
Leowski, Corinne;
Dufier, Jean-Louis;
Roche, Olivier;
Munnich, Arnold;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1178, doi. 10.1002/humu.20608

By:

Cmejla, Radek;
Cmejlova, Jana;
Handrkova, Helena;
Petrak, Jiri;
Pospisilova, Dagmar

Publication type:

Article

Association of SSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.).

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1243, doi. 10.1002/humu.20585

By:

Zhang, Zhenghua;
Niu, Zhenmin;
Wang, Yi;
Huang, Wei

Publication type:

Article