Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 9

Results: 16

Genetic modulation of TLR8 response following bacterial phagocytosis.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1069, doi. 10.1002/humu.21321

By:

Gantier, Michael P.;
Irving, Aaron T.;
Kaparakis-Liaskos, Maria;
Xu, Dakang;
Evans, Vanessa A.;
Cameron, Paul U.;
Bourne, James A.;
Ferrero, Richard L.;
John, Matthias;
Behlke, Mark A.;
Williams, Bryan R.G.

Publication type:

Article

UMD- CFTR: A database dedicated to CF and CFTR-related disorders.

Published in:

2010

By:

Bareil, Corinne;
Thèze, Corinne;
Béroud, Christophe;
Hamroun, Dalil;
Guittard, Caroline;
René, Céline;
Paulet, Damien;
Georges, Marie des;
Claustres, Mireille

Publication type:

Other

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1080, doi. 10.1002/humu.21322

By:

Wang, Hong-Ying;
Gopalan, Vivek;
Aksentijevich, Ivona;
Yeager, Meredith;
Ma, Chi Adrian;
Mohamoud, Yasmin Ali;
Quinones, Mariam;
Matthews, Casey;
Boland, Joseph;
Niemela, Julie E.;
Torgerson, Troy R.;
Giliani, Silvia;
Uzel, Gulbu;
Orange, Jordan S.;
Shapiro, Ralph;
Notarangelo, Luigi;
Ochs, Hans D.;
Fleisher, Thomas;
Kastner, Daniel;
Chanock, Stephen J.

Publication type:

Article

Mutations in the human laminin β2 ( LAMB2) gene and the associated phenotypic spectrum.

Published in:

2010

By:

Matejas, Verena;
Hinkes, Bernward;
Alkandari, Faisal;
Al-Gazali, Lihadh;
Annexstad, Ellen;
Aytac, Mehmet B.;
Barrow, Margaret;
Bláhová, Květa;
Bockenhauer, Detlef;
Cheong, Hae Il;
Maruniak-Chudek, Iwona;
Cochat, Pierre;
Dötsch, Jörg;
Gajjar, Priya;
Hennekam, Raoul C.;
Janssen, Françoise;
Kagan, Mikhail;
Kariminejad, Ariana;
Kemper, Markus J.;
Koenig, Jens

Publication type:

Other

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315

By:

Dutrannoy, Véronique;
Demuth, Ilja;
Baumann, Ulrich;
Schindler, Detlev;
Konrat, Kateryna;
Neitzel, Heidemarie;
Gillessen-Kaesbach, Gabriele;
Radszewski, Janina;
Rothe, Susanne;
Schellenberger, Mario T.;
Nürnberg, Gudrun;
Nürnberg, Peter;
Teik, Keng Wee;
Nallusamy, Revathy;
Reis, André;
Sperling, Karl;
Digweed, Martin;
Varon, Raymonda

Publication type:

Article

Computational analysis of missense mutations causing Snyder-Robinson syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1043, doi. 10.1002/humu.21310

By:

Zhang, Zhe;
Teng, Shaolei;
Wang, Liangjiang;
Schwartz, Charles E.;
Alexov, Emil

Publication type:

Article

Analysis of mutations causing biotinidase deficiency.

Published in:

2010

By:

Pindolia, Kirit;
Jordan, Megan;
Wolf, Barry

Publication type:

Other

The association of telomere length and genetic variation in telomere biology genes.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1050, doi. 10.1002/humu.21314

By:

Mirabello, Lisa;
Yu, Kai;
Kraft, Peter;
De Vivo, Immaculata;
Hunter, David J.;
Prescott, Jennifer;
Wong, Jason Y.Y.;
Chatterjee, Nilanjan;
Hayes, Richard B.;
Savage, Sharon A.

Publication type:

Article

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. E1670, doi. 10.1002/humu.21325

By:

Cox, James J.;
Sheynin, Jony;
Shorer, Zamir;
Reimann, Frank;
Nicholas, Adeline K.;
Zubovic, Lorena;
Baralle, Marco;
Wraige, Elizabeth;
Manor, Esther;
Levy, Jacov;
Woods, C. Geoffery;
Parvari, Ruti

Publication type:

Article

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1033, doi. 10.1002/humu.21307

By:

Jorge-Finnigan, Ana;
Aguado, Cristina;
Sánchez-Alcudia, Rocio;
Abia, David;
Richard, Eva;
Merinero, Begoña;
Gámez, Alejandra;
Banerjee, Ruma;
Desviat, Lourdes R.;
Ugarte, Magdalena;
Pérez, Belen

Publication type:

Article

Contribution of Telomere Maintenance-Associated Genes to Telomere Length.

Published in:

2010

By:

Calado, Rodrigo T.

Publication type:

Other

Transcriptional and translational effects of intronic CAPN3 gene mutations.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. E1658, doi. 10.1002/humu.21320

By:

Nascimbeni, Anna Chiara;
Fanin, Marina;
Tasca, Elisabetta;
Angelini, Corrado

Publication type:

Article

MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.

Published in:

2010

By:

Soussi, Thierry;
Hamroun, Dalil;
Hjortsberg, Linn;
Rubio-Nevado, Jean Michel;
Fournier, Jean Louis;
Béroud, Christophe

Publication type:

Other

A mutation database for amyotrophic lateral sclerosis.

Published in:

2010

By:

Yoshida, Makiko;
Takahashi, Yuji;
Koike, Asako;
Fukuda, Yoko;
Goto, Jun;
Tsuji, Shoji

Publication type:

Other

Understanding the Detailed Structural Effects of Missense Mutations.

Published in:

2010

By:

Greenblatt, Marc S.

Publication type:

Other

Novel tools for extraction and validation of disease-related mutations applied to fabry disease.

Published in:

2010

By:

Kuipers, Remko;
van den Bergh, Tom;
Joosten, Henk-Jan;
Lekanne dit Deprez, Ronald H.;
Mannens, Marcel MAM;
Schaap, Peter J.

Publication type:

Other