Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 7

Results: 17

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 945, doi. 10.1002/humu.22322

By:

Carr, Ian M.;
Morgan, Joanne;
Watson, Christopher;
Melnik, Svitlana;
Diggle, Christine P.;
Logan, Clare V.;
Harrison, Sally M.;
Taylor, Graham R.;
Pena, Sergio D.J.;
Markham, Alexander F.;
Alkuraya, Fowzan S.;
Black, Graeme C.M.;
Ali, Manir;
Bonthron, David T.

Publication type:

Article

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 986, doi. 10.1002/humu.22326

By:

Zhou, Haiyan;
Rokach, Ori;
Feng, Lucy;
Munteanu, Iulia;
Mamchaoui, Kamel;
Wilmshurst, Jo M.;
Sewry, Caroline;
Manzur, Adnan Y.;
Pillay, Komala;
Mouly, Vincent;
Duchen, Michael;
Jungbluth, Heinz;
Treves, Susan;
Muntoni, Francesco

Publication type:

Article

Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1026, doi. 10.1002/humu.22333

By:

Smith, Christopher G.;
Naven, Marc;
Harris, Rebecca;
Colley, James;
West, Hannah;
Li, Ning;
Liu, Yuan;
Adams, Richard;
Maughan, Timothy S.;
Nichols, Laura;
Kaplan, Richard;
Wagner, Michael J.;
McLeod, Howard L.;
Cheadle, Jeremy P.

Publication type:

Article

How to Assess Causality of TMPRSS6 Mutations?

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1043, doi. 10.1002/humu.22321

By:

Silvestri, Laura;
Rausa, Marco;
Pagani, Alessia;
Nai, Antonella;
Camaschella, Clara

Publication type:

Article

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1035, doi. 10.1002/humu.22332

By:

Sikkema‐Raddatz, Birgit;
Johansson, Lennart F.;
Boer, Eddy N.;
Almomani, Rowida;
Boven, Ludolf G.;
Berg, Maarten P.;
Spaendonck‐Zwarts, Karin Y.;
Tintelen, J. Peter;
Sijmons, Rolf H.;
Jongbloed, Jan D. H.;
Sinke, Richard J.

Publication type:

Article

Mutations in the C-Terminal Domain of Col Q in Endplate Acetylcholinesterase Deficiency Compromise Col Q- Mu SK Interaction.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 997, doi. 10.1002/humu.22325

By:

Nakata, Tomohiko;
Ito, Mikako;
Azuma, Yoshiteru;
Otsuka, Kenji;
Noguchi, Yoichiro;
Komaki, Hirofumi;
Okumura, Akihisa;
Shiraishi, Kazuhiro;
Masuda, Akio;
Natsume, Jun;
Kojima, Seiji;
Ohno, Kinji

Publication type:

Article

A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 ( CRMP4) Gene is Associated with ALS.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 953, doi. 10.1002/humu.22329

By:

Blasco, Hélène;
Bernard‐Marissal, Nathalie;
Vourc'h, Patrick;
Guettard, Yves Olivier;
Sunyach, Claire;
Augereau, Olivier;
Khederchah, Joelle;
Mouzat, Kevin;
Antar, Catherine;
Gordon, Paul H.;
Veyrat‐Durebex, Charlotte;
Besson, Gérard;
Andersen, Peter M.;
Salachas, François;
Meininger, Vincent;
Camu, William;
Pettmann, Brigitte;
Andres, Christian R.;
Corcia, Philippe

Publication type:

Article

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331

By:

Capri, Yline;
Friesema, Edith C.H.;
Kersseboom, Simone;
Touraine, Renaud;
Monnier, Aurélie;
Eymard‐Pierre, Eléonore;
Des Portes, Vincent;
De Michele, Giusseppe;
Brady, Angela F.;
Boespflug‐Tanguy, Odile;
Visser, Theo J.;
Vaurs‐Barriere, Catherine

Publication type:

Article

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 927, doi. 10.1002/humu.22320

By:

Heintz, Caroline;
Cotton, Richard G.H.;
Blau, Nenad

Publication type:

Article

Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1047, doi. 10.1002/humu.22345

By:

Matera, Ivana;
Musso, Marco;
Griseri, Paola;
Rusmini, Marta;
Duca, Marco;
So, Man‐ting;
Mavilio, Domenico;
Miao, Xiaoping;
Tam, Paul HK;
Ravazzolo, Roberto;
Ceccherini, Isabella;
Garcia‐Barcelo, Merce

Publication type:

Article

In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1005, doi. 10.1002/humu.22324

By:

Yan, Shixu E.;
Lemmin, Thomas;
Salvi, Suzanne;
Lausch, Ekkehart;
Superti‐Furga, Andrea;
Rokicki, Dariusz;
Dal Peraro, Matteo;
Goot, F. Gisou

Publication type:

Article

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 961, doi. 10.1002/humu.22328

By:

Riuró, Helena;
Beltran‐Alvarez, Pedro;
Tarradas, Anna;
Selga, Elisabet;
Campuzano, Oscar;
Vergés, Marcel;
Pagans, Sara;
Iglesias, Anna;
Brugada, Josep;
Brugada, Pedro;
Vázquez, Francisco M.;
Pérez, Guillermo J.;
Scornik, Fabiana S.;
Brugada, Ramon

Publication type:

Article

Online Biomedical Resources for Malaria-Related Red Cell Disorders.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 937, doi. 10.1002/humu.22330

By:

Piel, Frédéric B.;
Howes, Rosalind E.;
Nyangiri, Oscar A.;
Moyes, Catherine L.;
Williams, Thomas N.;
Weatherall, David J.;
Hay, Simon I.

Publication type:

Article

The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 1046, doi. 10.1002/humu.22334

By:

Nickerson, Michael L.;
Bosley, Allen D.;
Weiss, Jayne S.;
Kostiha, Brittany N.;
Hirota, Yoshihisa;
Brandt, Wolfgang;
Esposito, Dominic;
Kinoshita, Shigeru;
Wessjohann, Ludger;
Morham, Scott G.;
Andresson, Thorkell;
Kruth, Howard S.;
Okano, Toshio;
Dean, Michael

Publication type:

Article

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316

By:

Sollie, Annet;
Sijmons, Rolf H.;
Lindhout, Dick;
Ploeg, Ans T.;
Rubio Gozalbo, M. Estela;
Smit, G. Peter A.;
Verheijen, Frans;
Waterham, Hans R.;
Weely, Sonja;
Wijburg, Frits A.;
Wijburg, Rudolph;
Visser, Gepke

Publication type:

Article

Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. 974, doi. 10.1002/humu.22327

By:

Macfarlane, Catriona M.;
Collier, Pamela;
Rahbari, Raheleh;
Beck, Christine R.;
Wagstaff, John F.;
Igoe, Samantha;
Moran, John V.;
Badge, Richard M.

Publication type:

Article

Different Molecular Consequences of Frameshift Mutations in the ANTXR2 Gene.

Published in:

Human Mutation, 2013, v. 34, n. 7, p. v, doi. 10.1002/humu.22190

By:

Rampoldi, Luca

Publication type:

Article