Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 11

Results: 21

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1197, doi. 10.1002/humu.21569

By:

Berwouts, Sarah;
Morris, Michael A.;
Girodon, Emmanuelle;
Schwarz, Martin;
Stuhrmann, Manfred;
Dequeker, Elisabeth

Publication type:

Article

mRNA editing, FAS, and systemic lupus erythematosus.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21620

By:

Mountz, John D.

Publication type:

Article

Using systematic nomenclature for CFTR variants: Improvement needed.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21618

By:

den Dunnen, Johan

Publication type:

Article

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1246, doi. 10.1002/humu.21561

By:

Waite, Adrian;
De Rosa, Maria Cristina;
Brancaccio, Andrea;
Blake, Derek J.

Publication type:

Article

GLI3 is rarely implicated in OFD syndromes with midline abnormalities.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1332, doi. 10.1002/humu.21570

By:

Avila, M.;
Gigot, N.;
Aral, B.;
Callier, P.;
Gautier, E.;
Thevenon, J.;
Pasquier, L.;
Lopez, E.;
Gueneau, L.;
Duplomb, L.;
Goldenberg, A.;
Baumann, C.;
Cormier, V.;
Marlin, S.;
Masurel-Paulet, A.;
Huet, F.;
Attié-Bitach, T.;
Faivre, L.;
Thauvin-Robinet, C.

Publication type:

Article

Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1259, doi. 10.1002/humu.21560

By:

Shen, Xin-Ming;
Crawford, Thomas O.;
Brengman, Joan;
Acsadi, Gyula;
Iannaconne, Susan;
Karaca, Emin;
Khoury, Chaouky;
Mah, Jean K.;
Edvardson, Shimon;
Bajzer, Zeljko;
Rodgers, David;
Engel, Andrew G.

Publication type:

Article

FAS mRNA editing in human systemic lupus erythematosus.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1268, doi. 10.1002/humu.21565

By:

Wu, Jianming;
Xie, Fenglong;
Qian, Kun;
Gibson, Andrew W.;
Edberg, Jeffrey C.;
Kimberly, Robert P.

Publication type:

Article

Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1204, doi. 10.1002/humu.21576

By:

Has, Cristina;
Castiglia, Daniele;
del Rio, Marcela;
Garcia Diez, Marta;
Piccinni, Eugenia;
Kiritsi, Dimitra;
Kohlhase, Jürgen;
Itin, Peter;
Martin, Ludovic;
Fischer, Judith;
Zambruno, Giovanna;
Bruckner-Tuderman, Leena

Publication type:

Article

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1319, doi. 10.1002/humu.21575

By:

Yarham, John W.;
Al-Dosary, Mazhor;
Blakely, Emma L.;
Alston, Charlotte L.;
Taylor, Robert W.;
Elson, Joanna L.;
McFarland, Robert

Publication type:

Article

A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1326, doi. 10.1002/humu.21579

By:

Cilia La Corte, Amy L.;
Carter, Angela M.;
Rice, Gillian I.;
Duan, Qing Ling;
Rouleau, Guy A;
Adam, Albert;
Grant, Peter J.;
Hooper, Nigel M.

Publication type:

Article

Ancient origin of a deletion in human BST2/ Tetherin that confers protection against viral zoonoses.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1243, doi. 10.1002/humu.21571

By:

Sauter, Daniel;
Vogl, Michael;
Kirchhoff, Frank

Publication type:

Article

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1213, doi. 10.1002/humu.21564

By:

Blanchard, Arnaud;
Ea, Vuthy;
Roubertie, Agathe;
Martin, Mélanie;
Coquart, Coline;
Claustres, Mireille;
Béroud, Christophe;
Collod-Béroud, Gwenaëlle

Publication type:

Article

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. E2294, doi. 10.1002/humu.21567

By:

Pirozzi, Filomena;
Di Raimo, Francesca Romana;
Zanni, Ginevra;
Bertini, Enrico;
Billuart, Pierre;
Tartaglione, Tommaso;
Tabolacci, Elisabetta;
Brancaccio, Andrea;
Neri, Giovanni;
Chiurazzi, Pietro

Publication type:

Article

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568

By:

Guo, Tingwei;
McDonald-McGinn, Donna;
Blonska, Anna;
Shanske, Alan;
Bassett, Anne S.;
Chow, Eva;
Bowser, Mark;
Sheridan, Molly;
Beemer, Frits;
Devriendt, Koen;
Swillen, Ann;
Breckpot, Jeroen;
Digilio, Maria C.;
Marino, Bruno;
Dallapiccola, Bruno;
Carpenter, Courtney;
Zheng, Xin;
Johnson, Jacob;
Chung, Jonathan;
Higgins, Anne Marie

Publication type:

Article

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1239, doi. 10.1002/humu.21563

By:

Isidor, Bertrand;
Le Merrer, Martine;
Exner, G. Ulrich;
Pichon, Olivier;
Thierry, Gaelle;
Guiochon-Mantel, Anne;
David, Albert;
Cormier-Daire, Valérie;
Le Caignec, Cédric

Publication type:

Article

A mutation in SCARB2 is a modifier in gaucher disease.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1232, doi. 10.1002/humu.21566

By:

Velayati, Arash;
DePaolo, John;
Gupta, Nidhi;
Choi, Jae H.;
Moaven, Nima;
Westbroek, Wendy;
Goker-Alpan, Ozlem;
Goldin, Ehud;
Stubblefield, Barbara K.;
Kolodny, Edwin;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

The polymorphism and haplotypes of PIN1 gene are associated with the risk of lung cancer in southern and eastern chinese populations.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1299, doi. 10.1002/humu.21574

By:

Lu, Jiachun;
Yang, Lei;
Zhao, Hongjun;
Liu, Bin;
Li, Yinyan;
Wu, Hongxia;
Li, Qingchu;
Zeng, Bohang;
Wang, Yunnan;
Ji, Weidong;
Zhou, Yifeng

Publication type:

Article

No trespassing: Ancient BST2 deletion confers protection against simian immunodeficiency virus infection of humans.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21619

By:

Gifford, Robert J

Publication type:

Article

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1290, doi. 10.1002/humu.21578

By:

Holleboom, Adriaan G.;
Kuivenhoven, Jan A.;
Peelman, Frank;
Schimmel, Alinda W.;
Peter, Jorge;
Defesche, Joep C.;
Kastelein, John J.P.;
Hovingh, G. Kees;
Stroes, Erik S.;
Motazacker, Mohammad Mahdi

Publication type:

Article

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562

By:

Galmiche, Louise;
Serre, Valérie;
Beinat, Marine;
Assouline, Zahra;
Lebre, Anne-Sophie;
Chretien, Dominique;
Nietschke, Patrick;
Benes, Vladimir;
Boddaert, Nathalie;
Sidi, Daniel;
Brunelle, Francis;
Rio, Marlène;
Munnich, Arnold;
Rötig, Agnès

Publication type:

Article

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1309, doi. 10.1002/humu.21573

By:

Levy, Ronen;
Sobolev, Vladimir;
Edelman, Marvin

Publication type:

Article