Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 7

Results: 23

Novel mutations in VANGL1 in neural tube defects.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E706, doi. 10.1002/humu.21026

By:

Kibar, Zoha;
Bosoi, Ciprian M.;
Kooistra, Megan;
Salem, Sandra;
Finnell, Richard H.;
De Marco, Patrizia;
Merello, Elisa;
Bassuk, Alexander G.;
Capra, Valeria;
Gros, Philippe

Publication type:

Article

Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1134, doi. 10.1002/humu.21008

By:

Brookes, Anthony J.;
Chanock, Stephen J.;
Hudson, Thomas J.;
Peltonen, Leena;
Abecasis, Gonçalo;
Kwok, Pui-Yan;
Scherer, Stephen W.

Publication type:

Article

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1054, doi. 10.1002/humu.21007

By:

Nuytemans, Karen;
Meeus, Bram;
Crosiers, David;
Brouwers, Nathalie;
Goossens, Dirk;
Engelborghs, Sebastiaan;
Pals, Philippe;
Pickut, Barbara;
Van den Broeck, Marleen;
Corsmit, Ellen;
Cras, Patrick;
De Deyn, Peter P.;
Del-Favero, Jurgen;
Van Broeckhoven, Christine;
Theuns, Jessie

Publication type:

Article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037

By:

Hoefs, Saskia J.G.;
Dieteren, Cindy E.J.;
Rodenburg, Richard J.;
Naess, Karin;
Bruhn, Helene;
Wibom, Rolf;
Wagena, Esther;
Willems, Peter H.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.;
van den Heuvel, Lambert P.

Publication type:

Article

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1123, doi. 10.1002/humu.21029

By:

Bedard, Karen;
Attar, Homa;
Bonnefont, Jérôme;
Jaquet, Vincent;
Borel, Christelle;
Plastre, Olivier;
Stasia, Marie-José;
Antonarakis, Stylianos E.;
Krause, Karl-Heinz

Publication type:

Article

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1072, doi. 10.1002/humu.21001

By:

Lerner-Ellis, Jordan P.;
Anastasio, Natascia;
Liu, Junhui;
Coelho, David;
Suormala, Terttu;
Stucki, Martin;
Loewy, Amanda D.;
Gurd, Scott;
Grundberg, Elin;
Morel, Chantal F.;
Watkins, David;
Baumgartner, Matthias R.;
Pastinen, Tomi;
Rosenblatt, David S.;
Fowler, Brian

Publication type:

Article

A rescuable folding defective Na<sub>v</sub>1.1 ( SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies?

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E747, doi. 10.1002/humu.21041

By:

Rusconi, Raffaella;
Combi, Romina;
Cestèle, Sandrine;
Grioni, Daniele;
Franceschetti, Silvana;
Dalprà, Leda;
Mantegazza, Massimo

Publication type:

Article

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1104, doi. 10.1002/humu.21012

By:

Vantaggiato, Chiara;
Redaelli, Francesca;
Falcone, Sestina;
Perrotta, Cristiana;
Tonelli, Alessandra;
Bondioni, Sara;
Morbin, Michela;
Riva, Daria;
Saletti, Veronica;
Bonaglia, Maria C.;
Giorda, Roberto;
Bresolin, Nereo;
Clementi, Emilio;
Bassi, Maria T.

Publication type:

Article

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene ( NTRK3) as susceptibility factors for anxiety disorders.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1062, doi. 10.1002/humu.21005

By:

Muiños-Gimeno, Margarita;
Guidi, Monica;
Kagerbauer, Birgit;
Martín-Santos, Rocío;
Navinés, Ricard;
Alonso, Pino;
Menchón, José M.;
Gratacòs, Mònica;
Estivill, Xavier;
Espinosa-Parrilla, Yolanda

Publication type:

Article

BBS7 and TTC8 ( BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E737, doi. 10.1002/humu.21040

By:

Bin, Jenea;
Madhavan, Jagadeesan;
Ferrini, Walter;
Mok, Calvin A.;
Billingsley, Gail;
Héon, Elise

Publication type:

Article

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011

By:

Azad, Abul Kalam;
Rauh, Robert;
Vermeulen, François;
Jaspers, Martine;
Korbmacher, Judit;
Boissier, Brigitte;
Bassinet, Laurence;
Fichou, Yann;
Georges, Marie des;
Stanke, Frauke;
De Boeck, Kris;
Dupont, Lieven;
Balaščáková, Miroslava;
Hjelte, Lena;
Lebecque, Patrick;
Radojkovic, Dragica;
Castellani, Carlo;
Schwartz, Marianne;
Stuhrmann, Manfred;
Schwarz, Martin

Publication type:

Article

Genetic heterogeneity and cystic fibrosis.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. v, doi. 10.1002/humu.21062

By:

Cutting, Garry R.

Publication type:

Article

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1082, doi. 10.1002/humu.21015

By:

McMullan, Dominic J.;
Bonin, Michael;
Hehir-Kwa, Jayne Y.;
de Vries, Bert B.A.;
Dufke, Andreas;
Rattenberry, Eleanor;
Steehouwer, Marloes;
Moruz, Luminita;
Pfundt, Rolph;
de Leeuw, Nicole;
Riess, Angelika;
Altug-Teber, Özge;
Enders, Herbert;
Singer, Sylke;
Grasshoff, Ute;
Walter, Michael;
Walker, Judith M.;
Lamb, Catherine V.;
Davison, E. Val;
Brueton, Louise

Publication type:

Article

cblC: Advances in defining the MMACHC mutation spectrum.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. v, doi. 10.1002/humu.21061

By:

Kraus, Jan P.

Publication type:

Article

Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E761, doi. 10.1002/humu.21032

By:

Ali, Abdullah Mahmood;
Kirby, Michelle;
Jansen, Michael;
Lach, Francis P.;
Schulte, Jennifer;
Singh, Thiyam Ramsing;
Batish, Sat D.;
Auerbach, Arleen D.;
Williams, David A.;
Meetei, Amom Ruhikanta

Publication type:

Article

Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E716, doi. 10.1002/humu.21036

By:

Choi, Soo-Young;
Park, Hong-Joon;
Lee, Kyu Yup;
Dinh, Emilie Hoang;
Chang, Qing;
Ahmad, Shoab;
Lee, Sang Heun;
Bok, Jinwoong;
Lin, Xi;
Kim, Un-Kyung

Publication type:

Article

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1048, doi. 10.1002/humu.20957

By:

Fritsche, Lars G.;
Freitag-Wolf, Sandra;
Bettecken, Thomas;
Meitinger, Thomas;
Keilhauer, Claudia N.;
Krawczak, Michael;
Weber, Bernhard H.F.

Publication type:

Article

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1117, doi. 10.1002/humu.21018

By:

Rodríguez-Pascau, Laura;
Gort, Laura;
Schuchman, Edward H.;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Chabás, Amparo

Publication type:

Article

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E692, doi. 10.1002/humu.21025

By:

Ferré, Marc;
Bonneau, Dominique;
Milea, Dan;
Chevrollier, Arnaud;
Verny, Christophe;
Dollfus, Hélène;
Ayuso, Carmen;
Defoort, Sabine;
Vignal, Catherine;
Zanlonghi, Xavier;
Charlin, Jean-Francois;
Kaplan, Josseline;
Odent, Sylvie;
Hamel, Christian P.;
Procaccio, Vincent;
Reynier, Pascal;
Amati-Bonneau, Patrizia

Publication type:

Article

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E682, doi. 10.1002/humu.21002

By:

Abifadel, Marianne;
Rabès, Jean-Pierre;
Jambart, Sélim;
Halaby, Georges;
Gannagé-Yared, Marie-Hélène;
Sarkis, Antoine;
Beaino, Ghada;
Varret, Mathilde;
Salem, Nabiha;
Corbani, Sandra;
Aydénian, Hermine;
Junien, Claudine;
Munnich, Arnold;
Boileau, Catherine

Publication type:

Article

Update of cylindromatosis gene ( CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Published in:

2009

By:

Blake, Patrick W.;
Toro, Jorge R.

Publication type:

Other

SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

Published in:

2009

By:

Faruq, Mohammed;
Scaria, Vinod;
Singh, Inder;
Tyagi, Shivani;
Srivastava, Achal K.;
Mukerji, Mitali

Publication type:

Other

BAK1 gene variation and abdominal aortic aneurysms.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1043, doi. 10.1002/humu.21046

By:

Gottlieb, Bruce;
Chalifour, Lorraine E.;
Mitmaker, Benjamin;
Sheiner, Nathan;
Obrand, Daniel;
Abraham, Cherrie;
Meilleur, Melissa;
Sugahara, Tomoko;
Bkaily, Ghassan;
Schweitzer, Morris

Publication type:

Article