Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 11

Results: 22

In silico analysis of missense substitutions using sequence-alignment based methods.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1327, doi. 10.1002/humu.20892

By:

Tavtigian, Sean V.;
Greenblatt, Marc S.;
Lesueur, Fabienne;
Byrnes, Graham B.

Publication type:

Article

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1342, doi. 10.1002/humu.20896

By:

Tavtigian, Sean V.;
Byrnes, Graham B.;
Goldgar, David E.;
Thomas, Alun

Publication type:

Article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1273, doi. 10.1002/humu.20889

By:

Greenblatt, Marc S.;
Brody, Lawrence C.;
Foulkes, William D.;
Genuardi, Maurizio;
Hofstra, Robert M.W.;
Olivier, Magali;
Plon, Sharon E.;
Sijmons, Rolf H.;
Sinilnikova, Olga;
Spurdle, Amanda B.

Publication type:

Article

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.

Published in:

2008

By:

Tavtigian, Sean V.;
Greenblatt, Marc S.;
Goldgar, David E.;
Boffetta, Paolo

Publication type:

Other

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1282, doi. 10.1002/humu.20880

By:

Plon, Sharon E.;
Eccles, Diana M.;
Easton, Douglas;
Foulkes, William D.;
Genuardi, Maurizio;
Greenblatt, Marc S.;
Hogervorst, Frans B.L.;
Hoogerbrugge, Nicoline;
Spurdle, Amanda B.;
Tavtigian, Sean V.

Publication type:

Article

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E220, doi. 10.1002/humu.20851

By:

Grossi, Serena;
Regis, Stefano;
Rosano, Camillo;
Corsolini, Fabio;
Uziel, Graziella;
Sessa, Maria;
Di Rocco, Maja;
Parenti, Giancarlo;
Deodato, Federica;
Leuzzi, Vincenzo;
Biancheri, Roberta;
Filocamo, Mirella

Publication type:

Article

A database to support the interpretation of human mismatch repair gene variants.

Published in:

2008

By:

Ou, Jianghua;
Niessen, Renée C.;
Vonk, Jan;
Westers, Helga;
Hofstra, Robert M.W.;
Sijmons, Rolf H.

Publication type:

Other

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E231, doi. 10.1002/humu.20844

By:

Chiara Manzini, M.;
Gleason, Danielle;
Chang, Bernard S.;
Sean Hill, R.;
Barry, Brenda J.;
Partlow, Jennifer N.;
Poduri, Annapurna;
Currier, Sophie;
Galvin-Parton, Patricia;
Shapiro, Lawrence R.;
Schmidt, Karen;
Davis, Jessica G.;
Basel-Vanagaite, Lina;
Seidahmed, Mohamed Z.;
Salih, Mustafa A. M.;
Dobyns, William B.;
Walsh, Christopher A.

Publication type:

Article

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1364, doi. 10.1002/humu.20866

By:

Krasnov, Kristina V.;
Tzetis, Maria;
Cheng, Jie;
Guggino, William B.;
Cutting, Garry R.

Publication type:

Article

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E205, doi. 10.1002/humu.20819

By:

Beysen, Diane;
De Jaegere, Sarah;
Amor, David;
Bouchard, Philippe;
Christin-Maitre, Sophie;
Fellous, Marc;
Touraine, Philippe;
Grix, Arthur W.;
Hennekam, Raoul;
Meire, Françoise;
Oyen, Nina;
Wilson, Louise C.;
Barel, Dalit;
Clayton-Smith, Jill;
de Ravel, Thomy;
Decock, Christian;
Delbeke, Patricia;
Ensenauer, Regina;
Ebinger, Friedrich;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

TCF4 Deletions in Pitt-Hopkins Syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E242, doi. 10.1002/humu.20859

By:

Giurgea, Irina;
Missirian, Chantal;
Cacciagli, Pierre;
Whalen, Sandra;
Fredriksen, Tessa;
Gaillon, Thierry;
Rankin, Julia;
Mathieu-Dramard, Michele;
Morin, Gilles;
Martin-Coignard, Dominique;
Dubourg, Christèle;
Chabrol, Brigitte;
Arfi, Jacqueline;
Giuliano, Fabienne;
Claude Lambert, Jean;
Philip, Nicole;
Sarda, Pierre;
Villard, Laurent;
Goossens, Michel;
Moncla, Anne

Publication type:

Article

Assessment of functional effects of unclassified genetic variants.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1314, doi. 10.1002/humu.20899

By:

Couch, Fergus J.;
Rasmussen, Lene Juel;
Hofstra, Robert;
Monteiro, Alvaro N.A.;
Greenblatt, Marc S.;
de Wind, Niels

Publication type:

Article

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1292, doi. 10.1002/humu.20894

By:

Hofstra, Robert M.W.;
Spurdle, Amanda B.;
Eccles, Diana;
Foulkes, William D.;
de Wind, Niels;
Hoogerbrugge, Nicoline;
Hogervorst, Frans B.L.

Publication type:

Article

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E271, doi. 10.1002/humu.20865

By:

Enya, Mayumi;
Horikawa, Yukio;
Kuroda, Eiji;
Yonemaru, Kayoko;
Tonooka, Naoko;
Tomura, Hideaki;
Oda, Naohisa;
Yokoi, Norihide;
Yamagata, Kazuya;
Shihara, Nobuyuki;
Iizuka, Katsumi;
Saibara, Toshiji;
Seino, Susumu;
Takeda, Jun

Publication type:

Article

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E278, doi. 10.1002/humu.20869

By:

Wyatt, Alexander;
Bakrania, Preeti;
Bunyan, David J.;
Osborne, Robert J.;
Crolla, John A.;
Salt, Alison;
Ayuso, Carmen;
Newbury-Ecob, Ruth;
Abou-Rayyah, Y.;
Collin, J. Richard O.;
Robinson, David;
Ragge, Nicola

Publication type:

Article

Prediction and assessment of splicing alterations: implications for clinical testing.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1304, doi. 10.1002/humu.20901

By:

Spurdle, Amanda B.;
Couch, Fergus J.;
Hogervorst, Frans B.L.;
Radice, Paolo;
Sinilnikova, Olga M.

Publication type:

Article

Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E252, doi. 10.1002/humu.20860

By:

Danielsen, Stine A.;
Lind, Guro E.;
Bjørnslett, Merete;
Meling, Gunn I.;
Rognum, Torleiv O.;
Heim, Sverre;
Lothe, Ragnhild A.

Publication type:

Article

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E284, doi. 10.1002/humu.20871

By:

Stheneur, Chantal;
Collod-Béroud, Gwenaëlle;
Faivre, Laurence;
Gouya, Laurent;
Sultan, Gilles;
Le Parc, Jean-Marie;
Moura, Bertrand;
Attias, David;
Muti, Christine;
Sznajder, Marc;
Claustres, Mireille;
Junien, Claudine;
Baumann, Clarisse;
Cormier-Daire, Valérie;
Rio, Marlène;
Lyonnet, Stanislas;
Plauchu, Henri;
Lacombe, Didier;
Chevallier, Bertrand;
Jondeau, Guillaume

Publication type:

Article

Mechanisms of pathogenicity in human MSH2 missense mutants.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1355, doi. 10.1002/humu.20893

By:

Ollila, Saara;
Dermadi Bebek, Denis;
Jiricny, Josef;
Nyström, Minna

Publication type:

Article

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Published in:

2008

By:

Boria, Ilenia;
Quarello, Paola;
Avondo, Federica;
Garelli, Emanuela;
Aspesi, Anna;
Carando, Adriana;
Campagnoli, Maria Francesca;
Dianzani, Irma;
Ramenghi, Ugo

Publication type:

Other

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E296, doi. 10.1002/humu.20875

By:

Belvederesi, Laura;
Bianchi, Francesca;
Galizia, Eva;
Loretelli, Cristian;
Bracci, Raffaella;
Catalani, Romina;
Amati, Monica;
Cellerino, Riccardo

Publication type:

Article

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1265, doi. 10.1002/humu.20897

By:

Goldgar, David E.;
Easton, Douglas F.;
Byrnes, Graham B.;
Spurdle, Amanda B.;
Iversen, Edwin S.;
Greenblatt, Marc S.

Publication type:

Article