Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 10

Results: 20

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. E891, doi. 10.1002/humu.21082

By:

Savelkoul, Paul JM;
De Mattia, Fabrizio;
Li, Yuedan;
Kamsteeg, Erik-Jan;
Konings, Irene BM;
van der Sluijs, Peter;
Deen, Peter MT

Publication type:

Article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1378, doi. 10.1002/humu.21079

By:

Iseri, Sibel Ugur;
Osborne, Robert J.;
Farrall, Martin;
Wyatt, Alexander William;
Mirza, Ghazala;
Nürnberg, Gudrun;
Kluck, Christian;
Herbert, Helen;
Martin, Angela;
Hussain, Muhammad Sajid;
Collin, J. Richard O.;
Lathrop, Mark;
Nürnberg, Peter;
Ragoussis, Jiannis;
Ragge, Nicola K.

Publication type:

Article

The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1469, doi. 10.1002/humu.21097

By:

Yang, Tao;
Smith, Richard J.H.

Publication type:

Article

RFT1 deficiency in three novel CDG patients.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085

By:

Vleugels, Wendy;
Haeuptle, Micha A.;
Ng, Bobby G.;
Michalski, Jean-Claude;
Battini, Roberta;
Dionisi-Vici, Carlo;
Ludman, Mark D.;
Jaeken, Jaak;
Foulquier, François;
Freeze, Hudson H.;
Matthijs, Gert;
Hennet, Thierry

Publication type:

Article

Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarray.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1460, doi. 10.1002/humu.21080

By:

Tang, Jing;
Li, Yanqiang;
Pan, Zhiqiang;
Guo, Yubai;
Ma, Jie;
Ning, Sheng;
Xiao, Pengfeng;
Lu, Zuhong

Publication type:

Article

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1472, doi. 10.1002/humu.21125

By:

Bornholdt, Dorothea;
Oeffner, Frank;
König, Arne;
Happle, Rudolf;
Alanay, Yasemin;
Ascherman, Jeffrey;
Benke, Paul J.;
del Carmen Boente, María;
van der Burgt, Ineke;
Chassaing, Nicolas;
Ellis, Ian;
Francisco, Christina Raissa I.;
Giovanna, Patricia Della;
Hamel, Ben;
Has, Cristina;
Heinelt, Kaatje;
Janecke, Andreas;
Kastrup, Wolfgang;
Loeys, Bart;
Lohrisch, Ingo

Publication type:

Article

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1449, doi. 10.1002/humu.21091

By:

de Greef, Jessica C.;
Lemmers, Richard J.L.F.;
van Engelen, Baziel G.M.;
Sacconi, Sabrina;
Venance, Shannon L.;
Frants, Rune R.;
Tawil, Rabi;
van der Maarel, Silvère M.

Publication type:

Article

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1435, doi. 10.1002/humu.21088

By:

Chen, Jian-Min;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).

Published in:

Human Mutation, 2009, v. 30, n. 10, p. v, doi. 10.1002/humu.21124

By:

Claustres, Mireille

Publication type:

Article

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. E921, doi. 10.1002/humu.21090

By:

Roessler, Erich;
El-Jaick, Kenia B.;
Dubourg, Christèle;
Vélez, Jorge I.;
Solomon, Benjamin D.;
Pineda-Álvarez, Daniel E.;
Lacbawan, Felicitas;
Zhou, Nan;
Ouspenskaia, Maia;
Paulussen, Aimée;
Smeets, Hubert J.;
Hehr, Ute;
Bendavid, Claude;
Bale, Sherri;
Odent, Sylvie;
David, Véronique;
Muenke, Maximilian

Publication type:

Article

The SCN1A variant database: a novel research and diagnostic tool.

Published in:

2009

By:

Claes, Lieve RF;
Deprez, Liesbet;
Suls, Arvid;
Baets, Jonathan;
Smets, Katrien;
Van Dyck, Tine;
Deconinck, Tine;
Jordanova, Albena;
De Jonghe, Peter

Publication type:

Other

EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. E946, doi. 10.1002/humu.21094

By:

Abe, Yuichi;
Oka, Akira;
Mizuguchi, Masashi;
Igarashi, Takashi;
Ishikawa, Shumpei;
Aburatani, Hiroyuki;
Yokoyama, Shigetoshi;
Asahara, Hiroshi;
Nagao, Kazuaki;
Yamada, Masao;
Miyashita, Toshiyuki

Publication type:

Article

Response to: The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1471, doi. 10.1002/humu.21098

By:

Choi, Byung Yoon;
Alper, Seth L.;
Griffith, Andrew J.

Publication type:

Article

Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. E936, doi. 10.1002/humu.21093

By:

Cesani, Martina;
Capotondo, Alessia;
Plati, Tiziana;
Sergi, Lucia Sergi;
Fumagalli, Francesca;
Roncarolo, Maria Grazia;
Naldini, Luigi;
Comi, Giancarlo;
Sessa, Maria;
Biffi, Alessandra

Publication type:

Article

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1419, doi. 10.1002/humu.21086

By:

Bitoun, Marc;
Durieux, Anne-Cécile;
Prudhon, Bernard;
Bevilacqua, Jorge A.;
Herledan, Adrien;
Sakanyan, Vehary;
Urtizberea, Andoni;
Cartier, Luis;
Romero, Norma B.;
Guicheney, Pascale

Publication type:

Article

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1387, doi. 10.1002/humu.21068

By:

Kamsteeg, Erik-Jan;
Stoffels, Monique;
Tamma, Grazia;
Konings, Irene B.M.;
Deen, Peter M.T.

Publication type:

Article

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1406, doi. 10.1002/humu.21081

By:

Morisaki, Hiroko;
Akutsu, Koichi;
Ogino, Hitoshi;
Kondo, Norihiro;
Yamanaka, Itaru;
Tsutsumi, Yoshiaki;
Yoshimuta, Tsuyoshi;
Okajima, Toshiya;
Matsuda, Hitoshi;
Minatoya, Kenji;
Sasaki, Hiroaki;
Tanaka, Hiroshi;
Ishibashi-Ueda, Hatsue;
Morisaki, Takayuki

Publication type:

Article

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1397, doi. 10.1002/humu.21074

By:

Hwu, Wuh-Liang;
Chien, Yin-Hsiu;
Lee, Ni-Chung;
Chiang, Shu-Chuan;
Dobrovolny, Robert;
Huang, Ai-Chu;
Yeh, Hui-Ying;
Chao, May-Chin;
Lin, Shio-Jean;
Kitagawa, Teruo;
Desnick, Robert J.;
Hsu, Li-Wen

Publication type:

Article

The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1412, doi. 10.1002/humu.21089

By:

Dallosso, Anthony R.;
Jones, Siân;
Azzopardi, Duncan;
Moskvina, Valentina;
Al-Tassan, Nada;
Williams, Geraint T.;
Idziaszczyk, Shelley;
Davies, D. Rhodri;
Milewski, Peter;
Williams, Sally;
Beynon, John;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Genetic variations as cancer prognostic markers: review and update.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1369, doi. 10.1002/humu.21078

By:

Savas, Sevtap;
Liu, Geoffrey

Publication type:

Article