Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 12

Results: 25

Assessment of human nter and cter BRCA1 mutations using growth and localization assays in yeast.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1470, doi. 10.1002/humu.21608

By:

Millot, Gaël A.;
Berger, Adeline;
Lejour, Vincent;
Boulé, Jean-Baptiste;
Bobo, Claude;
Cullin, Christophe;
Lopes, Judith;
Stoppa-Lyonnet, Dominique;
Nicolas, Alain

Publication type:

Article

Location, Location, Cis-mutation.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. iv, doi. 10.1002/humu.21638

By:

Ahituv, Nadav

Publication type:

Article

Enhancer-adoption as a mechanism of human developmental disease.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1492, doi. 10.1002/humu.21615

By:

Lettice, Laura A.;
Daniels, Sarah;
Sweeney, Elizabeth;
Venkataraman, Shanmugasundaram;
Devenney, Paul S.;
Gautier, Philippe;
Morrison, Harris;
Fantes, Judy;
Hill, Robert E.;
FitzPatrick, David R.

Publication type:

Article

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1481, doi. 10.1002/humu.21603

By:

Arimura, Takuro;
Ishikawa, Taisuke;
Nunoda, Shinichi;
Kawai, Sachio;
Kimura, Akinori

Publication type:

Article

Estimating the degree of identity by descent in consanguineous couples.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1350, doi. 10.1002/humu.21584

By:

Carr, Ian M.;
Markham, Sir Alexander F.;
Pena, Sérgio D. J.

Publication type:

Article

dbHCCvar: A comprehensive database of human genetic variations in hepatocellular carcinoma.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. E2308, doi. 10.1002/humu.21595

By:

Yu, Xiao-Jia;
Fang, Fang;
Tang, Chun-Lei;
Yao, Lei;
Yu, Lu;
Yu, Long

Publication type:

Article

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1376, doi. 10.1002/humu.21606

By:

Alatzoglou, Kyriaki S.;
Andoniadou, Cynthia L.;
Kelberman, Daniel;
Buchanan, Charles R.;
Crolla, John;
Arriazu, Maria Cristina;
Roubicek, Martin;
Moncet, Daniel;
Martinez-Barbera, Juan P.;
Dattani, Mehul T.

Publication type:

Article

Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1407, doi. 10.1002/humu.21577

By:

McKay, Gareth J.;
Patterson, Chris C.;
Chakravarthy, Usha;
Dasari, Shilpa;
Klaver, Caroline C.;
Vingerling, Johannes R.;
Ho, Lintje;
de Jong, Paulus T.V.M.;
Fletcher, Astrid E.;
Young, Ian S.;
Seland, Johan H.;
Rahu, Mati;
Soubrane, Gisele;
Tomazzoli, Laura;
Topouzis, Fotis;
Vioque, Jesus;
Hingorani, Aroon D.;
Sofat, Reecha;
Dean, Michael;
Sawitzke, Julie

Publication type:

Article

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1335, doi. 10.1002/humu.21588

By:

Pan, Min;
Cong, Peikuan;
Wang, Yue;
Lin, Changsong;
Yuan, Ying;
Dong, Jian;
Banerjee, Santasree;
Zhang, Tao;
Chen, Yanling;
Zhang, Ting;
Chen, Mingqing;
Hu, Peter;
Zheng, Shu;
Zhang, Jin;
Qi, Ming

Publication type:

Article

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1417, doi. 10.1002/humu.21590

By:

Casey, Jillian;
Kawaguchi, Riki;
Morrissey, Maria;
Sun, Hui;
McGettigan, Paul;
Nielsen, Jens E.;
Conroy, Judith;
Regan, Regina;
Kenny, Elaine;
Cormican, Paul;
Morris, Derek W.;
Tormey, Peter;
Ní Chróinín, Muireann;
Kennedy, Breandan N.;
Lynch, SallyAnn;
Green, Andrew;
Ennis, Sean

Publication type:

Article

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1398, doi. 10.1002/humu.21580

By:

Wissinger, Bernd;
Schaich, Simone;
Baumann, Britta;
Bonin, Michael;
Jägle, Herbert;
Friedburg, Christoph;
Varsányi, Balázs;
Hoyng, Carel B.;
Dollfus, Hélène;
Heckenlively, John R.;
Rosenberg, Thomas;
Rudolph, Günter;
Kellner, Ulrich;
Salati, Roberto;
Plomp, Astrid;
De Baere, Elfride;
Andrassi-Darida, Monika;
Sauer, Alexandra;
Wolf, Christiane;
Zobor, Ditta

Publication type:

Article

Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1436, doi. 10.1002/humu.21583

By:

Chaoui, Asma;
Watanabe, Yuli;
Touraine, Renaud;
Baral, Viviane;
Goossens, Michel;
Pingault, Veronique;
Bondurand, Nadege

Publication type:

Article

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1450, doi. 10.1002/humu.21587

By:

Wang, Xia;
Wang, Hui;
Cao, Ming;
Li, Zhe;
Chen, Xianfeng;
Patenia, Claire;
Gore, Athurva;
Abboud, Emad B.;
Al-Rajhi, Ali A.;
A. Lewis, Richard;
Lupski, James R.;
Mardon, Graeme;
Zhang, Kun;
Muzny, Donna;
Gibbs, Richard A.;
Chen, Rui

Publication type:

Article

SgD-CNV, a database for common and rare copy number variants in three Asian populations.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1341, doi. 10.1002/humu.21601

By:

Xu, Haiyan;
Poh, Wan-Ting;
Sim, Xueling;
Ong, Rick Twee-Hee;
Suo, Chen;
Tay, Wan-Ting;
Khor, Chiea-Chuen;
Seielstad, Mark;
Liu, Jianjun;
Aung, Tin;
Tai, E-Shyong;
Wong, Tien-Yin;
Chia, Kee-Seng;
Teo, Yik-Ying

Publication type:

Article

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1385, doi. 10.1002/humu.21605

By:

Nasim, Md. Talat;
Ogo, Takeshi;
Ahmed, Mohammad;
Randall, Rebecca;
Chowdhury, Hasnin M.;
Snape, Katie M.;
Bradshaw, Teisha Y.;
Southgate, Laura;
Lee, Grace J.;
Jackson, Ian;
Lord, Graham M.;
Gibbs, J. Simon R.;
Wilkins, Martin R.;
Ohta-Ogo, Keiko;
Nakamura, Kazufumi;
Girerd, Barbara;
Coulet, Florence;
Soubrier, Florent;
Humbert, Marc;
Morrell, Nicholas W.

Publication type:

Article

Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1390, doi. 10.1002/humu.21582

By:

Angeles, Dario C.;
Gan, Bong-Hwa;
Onstead, Luisa;
Zhao, Yi;
Lim, Kah-Leong;
Dachsel, Justus;
Melrose, Heather;
Farrer, Matt;
Wszolek, Zbigniew K.;
Dickson, Dennis W.;
Tan, Eng-King

Publication type:

Article

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1500, doi. 10.1002/humu.21581

By:

Bruno, Damien L.;
Stark, Zornitza;
Amor, David J.;
Burgess, Trent;
Butler, Kathy;
Corrie, Sylvea;
Francis, David;
Ganesamoorthy, Devika;
Hills, Louise;
James, Paul A.;
O'Rielly, Darren;
Oertel, Ralph;
Savarirayan, Ravi;
Prabhakara, Krishnamurthy;
Salce, Nicholas;
Slater, Howard R.

Publication type:

Article

A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, 'dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome'. Which name is appropriate, 'Adducted Thumb-Clubfoot Syndrome' or 'Ehlers-Danlos syndrome'?

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1507, doi. 10.1002/humu.21586

By:

Kosho, Tomoki;
Miyake, Noriko;
Mizumoto, Shuji;
Hatamochi, Atsushi;
Fukushima, Yoshimitsu;
Yamada, Shuhei;
Sugahara, Kazuyuki;
Matsumoto, Naomichi

Publication type:

Article

DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1359, doi. 10.1002/humu.21597

By:

Carr, Ian M.;
Johnson, Colin A.;
Markham, Alex F.;
Toomes, Carmel;
Bonthron, David T.;
Sheridan, Eamonn G.

Publication type:

Article

Extending the phenotypes associated with DICER1 mutations.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1381, doi. 10.1002/humu.21600

By:

Foulkes, William D.;
Bahubeshi, Amin;
Hamel, Nancy;
Pasini, Barbara;
Asioli, Sofia;
Baynam, Gareth;
Choong, Catherine S.;
Charles, Adrian;
Frieder, Richard P.;
Dishop, Megan K.;
Graf, Nicole;
Ekim, Mesiha;
Bouron-Dal Soglio, Dorothée;
Arseneau, Jocelyne;
Young, Robert H.;
Sabbaghian, Nelly;
Srivastava, Archana;
Tischkowitz, Marc D.;
Priest, John R.

Publication type:

Article

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1427, doi. 10.1002/humu.21585

By:

Kariminejad, Roxana;
Lind-Thomsen, Allan;
Tümer, Zeynep;
Erdogan, Fikret;
Ropers, Hans H.;
Tommerup, Niels;
Ullmann, Reinhard;
Møller, Rikke S.

Publication type:

Article

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1371, doi. 10.1002/humu.21589

By:

Bosoi, Ciprian M.;
Capra, Valeria;
Allache, Redouane;
Trinh, Vincent Quoc-Huy;
De Marco, Patrizia;
Merello, Elisa;
Drapeau, Pierre;
Bassuk, Alexander G.;
Kibar, Zoha

Publication type:

Article

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1367, doi. 10.1002/humu.21552

By:

Yao, Ke;
Wang, Wei;
Zhu, Yanan;
Jin, Chongfei;
Shentu, Xingchao;
Jiang, Jin;
Zhang, Yidong;
Ni, Shuang

Publication type:

Article

BAG3 in heart disease: Novel clues for cardiomyocyte survival from the Z-disk?

Published in:

Human Mutation, 2011, v. 32, n. 12, p. iv, doi. 10.1002/humu.21637

By:

Labeit, Siegfried

Publication type:

Article

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.

Published in:

Human Mutation, 2011, v. 32, n. 12, p. 1460, doi. 10.1002/humu.21591

By:

Esposito, Gabriella;
De Falco, Francesca;
Tinto, Nadia;
Testa, Francesco;
Vitagliano, Luigi;
Tandurella, Igor Cristian Maria;
Iannone, Lucio;
Rossi, Settimio;
Rinaldi, Ernesto;
Simonelli, Francesca;
Zagari, Adriana;
Salvatore, Francesco

Publication type:

Article