Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 3

Results: 37

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus.

Published in:

2009

By:

Hollox, Edward J.;
Detering, Jan-Christoph;
Dehnugara, Tushna

Publication type:

Other

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941

By:

Clemen, Christoph S.;
Fischer, Dirk;
Reimann, Jens;
Eichinger, Ludwig;
Müller, Clemens R.;
Müller, Harald D.;
Goebel, Hans H.;
Schröder, Rolf

Publication type:

Article

Protein sequences encode safeguards against aggregation.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 431, doi. 10.1002/humu.20905

By:

Reumers, Joke;
Maurer-Stroh, Sebastian;
Schymkowitz, Joost;
Rousseau, Fréderic

Publication type:

Article

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 454, doi. 10.1002/humu.20933

By:

Pros, Eva;
Fernández-Rodríguez, Juana;
Canet, Belén;
Benito, Llúcia;
Sánchez, Aurora;
Benavides, Ana;
Ramos, Feliciano J.;
López-Ariztegui, María Asunción;
Capellá, Gabriel;
Blanco, Ignacio;
Serra, Eduard;
Lázaro, Conxi

Publication type:

Article

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 438, doi. 10.1002/humu.20912

By:

Botta, Elena;
Nardo, Tiziana;
Orioli, Donata;
Guglielmino, Roberta;
Ricotti, Roberta;
Bondanza, Sergio;
Benedicenti, Francesco;
Zambruno, Giovanna;
Stefanini, Miria

Publication type:

Article

Annotated chromosome maps for renal disease.

Published in:

2009

By:

McKnight, Amy Jayne;
O'Donoghue, Donal;
Peter Maxwell, A.

Publication type:

Other

Fertility defects revealing germline biallelic nonsense NBN mutations.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904

By:

Warcoin, Mathilde;
Lespinasse, James;
Despouy, Gilles;
Dubois d'Enghien, Catherine;
Laugé, Anthony;
Portnoï, Marie-France;
Christin-Maitre, Sophie;
Stoppa-Lyonnet, Dominique;
Henri Stern, Marc

Publication type:

Article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E500, doi. 10.1002/humu.20945

By:

Denora, Paola S.;
Schlesinger, David;
Casali, Carlo;
Kok, Fernando;
Tessa, Alessandra;
Boukhris, Amir;
Azzedine, Hamid;
Dotti, Maria Teresa;
Bruno, Claudio;
Truchetto, Jeremy;
Biancheri, Roberta;
Fedirko, Estelle;
Di Rocco, Maja;
Bueno, Clarissa;
Malandrini, Alessandro;
Battini, Roberta;
Sickl, Elisabeth;
de Leva, Maria Fulvia;
Boespflug-Tanguy, Odile;
Silvestri, Gabriella

Publication type:

Article

A<sub>1</sub>ATVar: a relational database of human SERPINA1 gene variants leading to α<sub>1</sub>-antitrypsin deficiency and application of the VariVis software.

Published in:

2009

By:

Zaimidou, Sophia;
van Baal, Sjozef;
Smith, Timothy D.;
Mitropoulos, Konstantinos;
Ljujic, Mila;
Radojkovic, Dragica;
Cotton, Richard G.;
Patrinos, George P.

Publication type:

Other

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 379, doi. 10.1002/humu.20868

By:

Kaplan, Frederick S.;
Xu, Meiqi;
Seemann, Petra;
Connor, J. Michael;
Glaser, David L.;
Carroll, Liam;
Delai, Patricia;
Fastnacht-Urban, Elisabeth;
Forman, Stephen J.;
Gillessen-Kaesbach, Gabriele;
Hoover-Fong, Julie;
Köster, Bernhard;
Pauli, Richard M.;
Reardon, William;
Zaidi, Syed-Adeel;
Zasloff, Michael;
Morhart, Rolf;
Mundlos, Stefan;
Groppe, Jay;
Shore, Eileen M.

Publication type:

Article

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 411, doi. 10.1002/humu.20879

By:

Maiti, Baijayanta;
Arbogast, Sandrine;
Allamand, Valérie;
Moyle, Mark W.;
Anderson, Christine B.;
Richard, Pascale;
Guicheney, Pascale;
Ferreiro, Ana;
Flanigan, Kevin M.;
Howard, Michael T.

Publication type:

Article

Converging on Alzheimer Disease loci in chromosome 10.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. vii, doi. 10.1002/humu.20999

By:

Dean, Michael

Publication type:

Article

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 391, doi. 10.1002/humu.20870

By:

Gasparre, Giuseppe;
Iommarini, Luisa;
Porcelli, Anna Maria;
Lang, Martin;
Ferri, Gian Gaetano;
Kurelac, Ivana;
Zuntini, Roberta;
Mariani, Elisa;
Pennisi, Lucia Fiammetta;
Pasquini, Ernesto;
Pasquinelli, Gianandrea;
Ghelli, Anna;
Bonora, Elena;
Ceccarelli, Claudio;
Rugolo, Michela;
Salfi, Nunzio;
Romeo, Giovanni;
Carelli, Valerio

Publication type:

Article

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 371, doi. 10.1002/humu.20863

By:

Kamath, Binita M.;
Thiel, Brian D.;
Gai, Xiaowu;
Conlin, Laura K.;
Munoz, Pedro S.;
Glessner, Joseph;
Clark, Dinah;
Warthen, Daniel M.;
Shaikh, Tamim H.;
Mihci, Ercan;
Piccoli, David A.;
Grant, Struan F.A.;
Hakonarson, Hakon;
Krantz, Ian D.;
Spinner, Nancy B.

Publication type:

Article

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 321, doi. 10.1002/humu.20874

By:

Cmejla, Radek;
Cmejlova, Jana;
Handrkova, Helena;
Petrak, Jiri;
Petrtylova, Kvetoslava;
Mihal, Vladimir;
Stary, Jan;
Cerna, Zdena;
Jabali, Yahia;
Pospisilova, Dagmar

Publication type:

Article

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E467, doi. 10.1002/humu.20932

By:

Yik, Wing Yan;
Steinberg, Steven J.;
Moser, Ann B.;
Moser, Hugo W.;
Hacia, Joseph G.

Publication type:

Article

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 446, doi. 10.1002/humu.20915

By:

van Wijk, Richard;
Huizinga, Eric G.;
van Wesel, Annet C.W.;
van Oirschot, Brigitte A.;
A. Hadders, Michael;
van Solinge, Wouter W.

Publication type:

Article

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966

By:

Menao, Sebastián;
López-Viñas, Eduardo;
Mir, Cecilia;
Puisac, Beatriz;
Gratacós, Esther;
Arnedo, María;
Carrasco, Patricia;
Moreno, Susana;
Ramos, Mónica;
Gil, María Concepción;
Pié, Ángeles;
Ribes, Antonia;
Pérez-Cerda, Celia;
Ugarte, Magdalena;
Clayton, Peter T.;
Korman, Stanley H.;
Serra, Dolors;
Asins, Guillermina;
Ramos, Feliciano J.;
Gómez-Puertas, Paulino

Publication type:

Article

MedRefSNP: A database of medically investigated SNPs.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E460, doi. 10.1002/humu.20914

By:

Rhee, Hwanseok;
Lee, Jin-Sung

Publication type:

Article

Mechanistic insights into the link between a polymorphism of the 3′UTR of the SLC7A1 gene and hypertension.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 328, doi. 10.1002/humu.20891

By:

Yang, Zhiyong;
Kaye, David M

Publication type:

Article

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 363, doi. 10.1002/humu.20862

By:

Andersen, Paal Skytt;
Havndrup, Ole;
Hougs, Lotte;
Sørensen, Karina M.;
Jensen, Morten;
Larsen, Lars Allan;
Hedley, Paula;
Bie Thomsen, Alex Rojas;
Moolman-Smook, Johanna;
Christiansen, Michael;
Bundgaard, Henning

Publication type:

Article

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 472, doi. 10.1002/humu.20873

By:

Goossens, Dirk;
Moens, Lotte N.;
Nelis, Eva;
Lenaerts, An-Sofie;
Glassee, Wim;
Kalbe, Andreas;
Frey, Bruno;
Kopal, Guido;
Jonghe, Peter De;
Rijk, Peter De;
Del-Favero, Jurgen

Publication type:

Article

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 352, doi. 10.1002/humu.20855

By:

Rosenberger, Georg;
Meien, Stefanie;
Kutsche, Kerstin

Publication type:

Article

Neurofibromatosis type 1 antisense therapy on the horizon?

Published in:

Human Mutation, 2009, v. 30, n. 3, p. vii, doi. 10.1002/humu.20998

By:

Legius, Eric

Publication type:

Article

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975

By:

Aiello, Chiara;
Terracciano, Alessandra;
Simonati, Alessandro;
Discepoli, Giancarlo;
Cannelli, Natalia;
Claps, Dianela;
Crow, Yanick J.;
Bianchi, Marzia;
Kitzmuller, Claudia;
Longo, Daniela;
Tavoni, Antonietta;
Franzoni, Emilio;
Tessa, Alessandra;
Veneselli, Edwige;
Boldrini, Renata;
Filocamo, Mirella;
Williams, Ruth E.;
Bertini, Enrico S.;
Biancheri, Roberta;
Carrozzo, Rosalba

Publication type:

Article

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 283, doi. 10.1002/humu.20883

By:

Koolen, David A.;
Pfundt, Rolph;
de Leeuw, Nicole;
Hehir-Kwa, Jayne Y.;
Nillesen, Willy M.;
Neefs, Ineke;
Scheltinga, Ine;
Sistermans, Erik;
Smeets, Dominique;
Brunner, Han G.;
van Kessel, Ad Geurts;
Veltman, Joris A.;
de Vries, Bert B.A.

Publication type:

Article

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 293, doi. 10.1002/humu.20918

By:

Aartsma-Rus, Annemieke;
Fokkema, Ivo;
Verschuuren, Jan;
Ginjaar, Ieke;
van Deutekom, Judith;
van Ommen, Gert-Jan;
den Dunnen, Johan T.

Publication type:

Article

Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 463, doi. 10.1002/humu.20953

By:

Liang, Xueying;
Slifer, Michael;
Martin, Eden R.;
Schnetz-Boutaud, Nathalie;
Bartlett, Jackie;
Anderson, Brent;
Züchner, Stephan;
Gwirtsman, Harry;
Gilbert, John R.;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.

Publication type:

Article

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 275, doi. 10.1002/humu.20832

By:

Olivier, M.;
Petitjean, A.;
Teague, J.;
Forbes, S.;
Dunnick, J.K.;
den Dunnen, J.T.;
Langerød, A.;
Wilkinson, J.M.;
Vihinen, M.;
Cotton, R.G.H.;
Hainaut, P.

Publication type:

Article

ATP13A2 variability in Parkinson disease.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 406, doi. 10.1002/humu.20877

By:

Vilariño-Güell, Carles;
Soto, Alexandra I.;
Lincoln, Sarah J.;
Yahmed, Samia Ben;
Kefi, Mounir;
Heckman, Michael G.;
Hulihan, Mary M.;
Chai, Hua;
Diehl, Nancy N.;
Amouri, Rim;
Rajput, Alex;
Mash, Deborah C.;
Dickson, Dennis W.;
Middleton, Lefkos T.;
Gibson, Rachel A.;
Hentati, Faycal;
Farrer, Matthew J.

Publication type:

Article

Haplotypes of the NR4A2/NURR1 gene and cardiovascular disease: The Rotterdam Study.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 417, doi. 10.1002/humu.20902

By:

Kardys, Isabella;
van Tiel, Claudia M.;
de Vries, Carlie J.M.;
Pannekoek, Hans;
Uitterlinden, André G.;
Hofman, Albert;
Witteman, Jacqueline C.M.;
de Maat, Moniek P.M.

Publication type:

Article

Combining the interactome and deleterious SNP predictions to improve disease gene identification.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 485, doi. 10.1002/humu.20917

By:

Care, M.A.;
Bradford, J.R.;
Needham, C.J.;
Bulpitt, A.J.;
Westhead, D.R.

Publication type:

Article

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854

By:

Callewaert, Bert L.;
Loeys, Bart L.;
Ficcadenti, Anna;
Vermeer, Sascha;
Landgren, Magnus;
Kroes, Hester Y.;
Yaron, Yuval;
Pope, Michael;
Foulds, Nicola;
Boute, Odile;
Galán, Francisco;
Kingston, Helen;
Van der Aa, Nathalie;
Salcedo, Iratxe;
Swinkels, Marielle E.;
Wallgren-Pettersson, Carina;
Gabrielli, Orazio;
De Backer, Julie;
Coucke, Paul J.;
De Paepe, Anne M.

Publication type:

Article

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 342, doi. 10.1002/humu.20858

By:

Escher, Pascal;
Gouras, Peter;
Roduit, Raphaël;
Tiab, Leila;
Bolay, Sylvain;
Delarive, Tania;
Chen, Shiming;
Tsai, Chih-Cheng;
Hayashi, Masanori;
Zernant, Jana;
Merriam, Joanna E.;
Mermod, Nicolas;
Allikmets, Rando;
Munier, Francis L.;
Schorderet, Daniel F.

Publication type:

Article

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876

By:

Saint-Martin, Cécile;
Gauvain, Grégory;
Teodorescu, Georgeta;
Gourfinkel-An, Isabelle;
Fedirko, Estelle;
Weber, Yvonne G.;
Maljevic, Snezana;
Ernst, Jan-Peter;
Garcia-Olivares, Jennie;
Fahlke, Christoph;
Nabbout, Rima;
LeGuern, Eric;
Lerche, Holger;
Poncer, Jean Christophe;
Depienne, Christel

Publication type:

Article

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E481, doi. 10.1002/humu.20939

By:

Valdmanis, Paul N.;
Verlaan, Dominique J.;
Rouleau, Guy A.

Publication type:

Article

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Published in:

2009

By:

Engel, Katharina;
Höhne, Wolfgang;
Häberle, Johannes

Publication type:

Other