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

Results: 22

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
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
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
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
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