Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 1

Results: 23

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 116, doi. 10.1002/humu.21417

By:

Monnot, Sophie;
Gigarel, Nadine;
Samuels, David C.;
Burlet, Philippe;
Hesters, Laetitia;
Frydman, Nelly;
Frydman, René;
Kerbrat, Violaine;
Funalot, Benoit;
Martinovic, Jelena;
Benachi, Alexandra;
Feingold, Josué;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Steffann, Julie

Publication type:

Article

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 10, doi. 10.1002/humu.21390

By:

Reiss, Jochen;
Hahnewald, Rita

Publication type:

Article

Evaluation of germline BMP4 mutation as a cause of colorectal cancer.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1928, doi. 10.1002/humu.21376

By:

Lubbe, Steven J.;
Pittman, Alan M.;
Matijssen, Cornelis;
Twiss, Philip;
Olver, Bianca;
Lloyd, Amy;
Qureshi, Mobshra;
Brown, Nathan;
Nye, Emma;
Stamp, Gordon;
Blagg, Julian;
Houlston, Richard S.

Publication type:

Article

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 78, doi. 10.1002/humu.21387

By:

Garcia-Linares, Carles;
Fernández-Rodríguez, Juana;
Terribas, Ernest;
Mercadé, Jaume;
Pros, Eva;
Benito, Llúcia;
Benavente, Yolanda;
Capellà, Gabriel;
Ravella, Anna;
Blanco, Ignacio;
Kehrer-Sawatzki, Hildegard;
Lázaro, Conxi;
Serra, Eduard

Publication type:

Article

pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 19, doi. 10.1002/humu.21331

By:

Wang, Jingbo;
Ronaghi, Mostafa;
Chong, Samuel S.;
Lee, Caroline G.L.

Publication type:

Article

Evaluating Mutant mtDNA Tissue Distribution in Early Fetal Development.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. v, doi. 10.1002/humu.21434

By:

Cree, Lynsey

Publication type:

Article

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 25, doi. 10.1002/humu.21382

By:

Kloss-Brandstätter, Anita;
Pacher, Dominic;
Schönherr, Sebastian;
Weissensteiner, Hansi;
Binna, Robert;
Specht, Günther;
Kronenberg, Florian

Publication type:

Article

PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1948, doi. 10.1002/humu.21393

By:

Pinto, Sofia;
Vlahoviček, Kristian;
Buratti, Emanuele

Publication type:

Article

A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1939, doi. 10.1002/humu.21386

By:

Wang, Binbin;
Yu, Changhong;
Xi, Yi-Bo;
Cai, Hong-Chen;
Wang, Jing;
Zhou, Sirui;
Zhou, Shiyi;
Wu, Yi;
Yan, Yong-Bin;
Ma, Xu;
Xie, Lixin

Publication type:

Article

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1976, doi. 10.1002/humu.21399

By:

Ho, Gladys;
Yonezawa, Atsushi;
Masuda, Satohiro;
Inui, Ken-ichi;
Sim, Keow G.;
Carpenter, Kevin;
Olsen, Rikke K.J.;
Mitchell, John J.;
Rhead, William J.;
Peters, Gregory;
Christodoulou, John

Publication type:

Article

'Mutation in brief' online articles discontinued-introducing 'brief reports'.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 1, doi. 10.1002/humu.21425

By:

Paalman, Mark H.;
Cutting, Garry R.;
Cotton, Richard G.H.

Publication type:

Article

Only four genes ( EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 70, doi. 10.1002/humu.21384

By:

Cluzeau, Céline;
Hadj-Rabia, Smail;
Jambou, Marguerite;
Mansour, Sourour;
Guigue, Philippe;
Masmoudi, Sahben;
Bal, Elodie;
Chassaing, Nicolas;
Vincent, Marie-Claire;
Viot, Géraldine;
Clauss, François;
Manière, Marie-Cécile;
Toupenay, Steve;
Le Merrer, Martine;
Lyonnet, Stanislas;
Cormier-Daire, Valérie;
Amiel, Jeanne;
Faivre, Laurence;
de Prost, Yves;
Munnich, Arnold

Publication type:

Article

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 2, doi. 10.1002/humu.21397

By:

Patrinos, George P.;
Al Aama, Jumana;
Al Aqeel, Aida;
Al-Mulla, Fahd;
Borg, Joseph;
Devereux, Andrew;
Felice, Alex E.;
Macrae, Finlay;
Marafie, Makia J.;
Petersen, Michael B.;
Qi, Ming;
Ramesar, Rajkumar S.;
Zlotogora, Joel;
Cotton, Richard G.H.

Publication type:

Article

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 107, doi. 10.1002/humu.21409

By:

Kansikas, Minttu;
Kariola, Reetta;
Nyström, Minna

Publication type:

Article

Legius syndrome in fourteen families.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404

By:

Denayer, Ellen;
Chmara, Magdalena;
Brems, Hilde;
Kievit, Anneke Maat;
van Bever, Yolande;
Van den Ouweland, Ans MW;
Van Minkelen, Rick;
de Goede-Bolder, Arja;
Oostenbrink, Rianne;
Lakeman, Phillis;
Beert, Eline;
Ishizaki, Takuma;
Mori, Tomoaki;
Keymolen, Kathelijn;
Van den Ende, Jenneke;
Mangold, Elisabeth;
Peltonen, Sirkku;
Brice, Glen;
Rankin, Julia;
Van Spaendonck-Zwarts, Karin Y

Publication type:

Article

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 51, doi. 10.1002/humu.21385

By:

Frank-Raue, Karin;
Rybicki, Lisa A.;
Erlic, Zoran;
Schweizer, Heiko;
Winter, Aurelia;
Milos, Ioana;
Toledo, Sergio P.A.;
Toledo, Rodrigo A.;
Tavares, Marcos R.;
Alevizaki, Maria;
Mian, Caterina;
Siggelkow, Heide;
Hüfner, Michael;
Wohllk, Nelson;
Opocher, Giuseppe;
Dvořáková, Šárka;
Bendlova, Bela;
Czetwertynska, Małgorzata;
Skasko, Elżbieta;
Barontini, Marta

Publication type:

Article

Stepwise Functional Assessment of Unclassified DNA Variants.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. v, doi. 10.1002/humu.21433

By:

Genuardi, Maurizio

Publication type:

Article

MET mutations in cancers of unknown primary origin (CUPs).

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 44, doi. 10.1002/humu.21374

By:

Stella, Giulia M.;
Benvenuti, Silvia;
Gramaglia, Daniela;
Scarpa, Aldo;
Tomezzoli, Anna;
Cassoni, Paola;
Senetta, Rebecca;
Venesio, Tiziana;
Pozzi, Ernesto;
Bardelli, Alberto;
Comoglio, Paolo M.

Publication type:

Article

Statistical inference of allelic imbalance from transcriptome data.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 98, doi. 10.1002/humu.21396

By:

Nothnagel, Michael;
Wolf, Andreas;
Herrmann, Alexander;
Szafranski, Karol;
Vater, Inga;
Brosch, Mario;
Huse, Klaus;
Siebert, Reiner;
Platzer, Matthias;
Hampe, Jochen;
Krawczak, Michael

Publication type:

Article

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 91, doi. 10.1002/humu.21395

By:

Busse, Tracy;
Graham, John M.;
Feldman, Gerald;
Perin, Juan;
Catherwood, Anne;
Knowlton, Robert;
Rappaport, Eric F.;
Emanuel, Beverly;
Driscoll, Deborah A.;
Saitta, Sulagna C.

Publication type:

Article

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 33, doi. 10.1002/humu.21377

By:

Gremer, Lothar;
Merbitz-Zahradnik, Torsten;
Dvorsky, Radovan;
Cirstea, Ion C.;
Kratz, Christian Peter;
Zenker, Martin;
Wittinghofer, Alfred;
Ahmadian, Mohammad Reza

Publication type:

Article

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 59, doi. 10.1002/humu.21388

By:

Ebberink, Merel S.;
Mooijer, Petra A.W.;
Gootjes, Jeannette;
Koster, Janet;
Wanders, Ronald J.A.;
Waterham, Hans R.

Publication type:

Article

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373

By:

Depienne, Christel;
Trouillard, Oriane;
Bouteiller, Delphine;
Gourfinkel-An, Isabelle;
Poirier, Karine;
Rivier, François;
Berquin, Patrick;
Nabbout, Rima;
Chaigne, Denys;
Steschenko, Dominique;
Gautier, Agnès;
Hoffman-Zacharska, Dorota;
Lannuzel, Annie;
Lackmy-Port-Lis, Marilyn;
Maurey, Hélène;
Dusser, Anne;
Bru, Marie;
Gilbert-Dussardier, Brigitte;
Roubertie, Agathe;
Kaminska, Anna

Publication type:

Article