Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 2

Results: 19

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 213, doi. 10.1002/humu.9400

By:

Lenato, Gennaro M.;
Lastella, Patrizia;
Di Giacomo, Marilena C.;
Resta, Nicoletta;
Suppressa, Patrizia;
Pasculli, Giovanna;
Sabbà, Carlo;
Guanti, Ginevra

Publication type:

Article

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9396

By:

Borozdin, Wiktor;
Steinmann, Katharina;
Albrecht, Beate;
Bottani, Armand;
Devriendt, Koenraad;
Leipoldt, Michael;
Kohlhase, Jürgen

Publication type:

Article

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 211, doi. 10.1002/humu.9395

By:

Urreizti, Roser;
Asteggiano, Carla;
Cozar, Mónica;
Frank, Nina;
Vilaseca, María Antonia;
Grinberg, Daniel;
Balcells, Susana

Publication type:

Article

Novel PRG4 mutations underlie CACP in Saudi families.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 213, doi. 10.1002/humu.9399

By:

Alazami, Anas M.;
Al-Mayouf, Sulaiman M.;
Wyngaard, Carol-Ann;
Meyer, Brian

Publication type:

Article

Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 155, doi. 10.1002/humu.20281

By:

Goldberg, M.;
Rummelt, C.;
Foja, S.;
Holbach, L.M.;
Ballhausen, W.G.

Publication type:

Article

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension.

Published in:

2006

By:

Machado, Rajiv D.;
Aldred, Micheala A.;
James, Victoria;
Harrison, Rachel E.;
Patel, Bhakti;
Schwalbe, Edward C.;
Gruenig, Ekkehard;
Janssen, Bart;
Koehler, Rolf;
Seeger, Werner;
Eickelberg, Oliver;
Olschewski, Horst;
Gregory Elliott, C.;
Glissmeyer, Eric;
Carlquist, John;
Kim, Miryoung;
Torbicki, Adam;
Fijalkowska, Anna;
Szewczyk, Grzegorz;
Parma, Jasmine

Publication type:

Other

Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 173, doi. 10.1002/humu.20289

By:

Fredman, David;
Sawyer, Sarah L.;
Strömqvist, Linda;
Mottagui-Tabar, Salim;
Kidd, Kenneth K.;
Wahlestedt, Claes;
Chanock, Stephen J.;
Brookes, Anthony J.

Publication type:

Article

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9402

By:

Yates, Jane;
Keeble, Winifred;
Pals, Gerard;
Ameziane, Najim;
van Spaendonk, Rosalina;
Olson, Susan;
Akkari, Yassmine;
Pasquini, Ricardo;
Bagby, Grover

Publication type:

Article

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9398

By:

Aldred, Micheala A.;
Vijayakrishnan, Jairam;
James, Victoria;
Soubrier, Florent;
Gomez-Sanchez, Miguel A.;
Martensson, Gunnar;
Galie, Nazzareno;
Manes, Alessandra;
Corris, Paul;
Simonneau, Gerald;
Humbert, Marc;
Morrell, Nicholas W.;
Trembath, Richard C.

Publication type:

Article

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 145, doi. 10.1002/humu.20280

By:

Auclair, Jessie;
Busine, Marie Pierre;
Navarro, Claudine;
Ruano, Eric;
Montmain, Gilles;
Desseigne, Françoise;
Saurin, Jean Christophe;
Lasset, Christine;
Bonadona, Valérie;
Giraud, Sophie;
Puisieux, Alain;
Wang, Qing

Publication type:

Article

Predicting the transactivation activity of p53 missense mutants using a four-body potential score derived from Delaunay tessellations.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 163, doi. 10.1002/humu.20284

By:

Mathe, Ewy;
Olivier, Magali;
Kato, Shunsuke;
Ishioka, Chikashi;
Vaisman, Iosif;
Hainaut, Pierre

Publication type:

Article

Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 187, doi. 10.1002/humu.20248

By:

Gaustadnes, Mette;
Ørntoft, Torben F.;
Jensen, Jens Ledet;
Torring, Niels

Publication type:

Article

Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI).

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9401

By:

Fernández-Marmiesse, Ana;
Salas, Antonio;
Vega, Ana;
Fernández-Lorenzo, José Ramón;
Barreiro, Jesús;
Carracedo, Ángel

Publication type:

Article

A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9397

By:

Vernia, Santiago;
Eberlé, Delphine;
Mijares, Antonio Hernandez;
Foufelle, Fabienne;
Casado, Marta

Publication type:

Article

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 133, doi. 10.1002/humu.20302

By:

Xiao, Peng;
Liu, Pengyuan;
Weber, James L.;
Papasian, Christopher J.;
Recker, Robert R.;
Deng, Hong-Wen

Publication type:

Article

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 201, doi. 10.1002/humu.20294

By:

Ferrari, Francesca;
Foglieni, Barbara;
Arosio, Paolo;
Camaschella, Clara;
Daraio, Filomena;
Levi, Sonia;
Antonio García Erce, José;
Beaumont, Carole;
Cazzola, Mario;
Ferrari, Maurizio;
Cremonesi, Laura

Publication type:

Article

Altered transmission of maternal angiotensin II receptor haplotypes in fetal growth restriction.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 138, doi. 10.1002/humu.20265

By:

Tower, Clare;
Chappell, Sally;
Acharya, Meera;
Crane, Richard;
Szolin, Stephanie;
Symonds, Lyneth;
Chevins, Helen;
Kalsheker, Noor;
Baker, Philip;
Morgan, Linda

Publication type:

Article

Prioritizing regions of candidate genes for efficient mutation screening.

Published in:

2006

By:

Braun, Terry A.;
Shankar, Suma P.;
Davis, Steve;
O'Leary, Brian;
Scheetz, Todd E.;
Clark, Abbot F.;
Sheffield, Val C.;
Casavant, Thomas L.;
Stone, Edwin M.

Publication type:

Other

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 209, doi. 10.1002/humu.20298

By:

Wang, Yun;
Kringen, Pedro;
Kristensen, Gunnar B.;
Holm, Ruth;
Baekelandt, Mark M.O.;
Olivier, Magali;
Skomedal, Hanne;
Hainaut, Pierre;
Tropé, Claes G.;
Abeler, Vera M.;
Nesland, Jahn M.;
Børresen-Dale, Anne-Lise;
Helland, Åslaug

Publication type:

Article