Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 10

Results: 21

Future challenges for human mutation research.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 929, doi. 10.1002/humu.20630

By:

Cutting, Garry R.

Publication type:

Article

The novel human SHOX allelic variant database.

Published in:

2007

By:

Niesler, Beate;
Röth, Ralph;
Wilke, Steffi;
Fujimura, Frank;
Fischer, Christine;
Rappold, Gudrun

Publication type:

Other

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1028, doi. 10.1002/humu.20563

By:

Gherasim, Carmen;
Rosenblatt, David S.;
Banerjee, Ruma

Publication type:

Article

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1014, doi. 10.1002/humu.20556

By:

Nal, Nevra;
Ahmed, Zubair M.;
Erkal, Engin;
Alper, Özgül M.;
Lüleci, Güven;
Dinç, Oktay;
Waryah, Ali Muhammad;
Ain, Quratul;
Tasneem, Saba;
Husnain, Tayyab;
Chattaraj, Parna;
Riazuddin, Saima;
Boger, Erich;
Ghosh, Manju;
Kabra, Madhulika;
Riazuddin, Sheikh;
Morell, Robert J.;
Friedman, Thomas B.

Publication type:

Article

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1034, doi. 10.1002/humu.20564

By:

Froyen, Guy;
Van Esch, Hilde;
Bauters, Marijke;
Hollanders, Karen;
Frints, Suzanna G.M.;
Vermeesch, Joris R.;
Devriendt, Koen;
Fryns, Jean-Pierre;
Marynen, Peter

Publication type:

Article

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene ( MCEE).

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1045, doi. 10.1002/humu.9507

By:

Gradinger, Abigail B.;
Bélair, Caroline;
Worgan, Lisa C.;
Li, Carter D.;
Lavallée, Jocelyne;
Roquis, David;
Watkins, David;
Rosenblatt, David S.

Publication type:

Article

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 985, doi. 10.1002/humu.20549

By:

Aretz, Stefan;
Stienen, Dietlinde;
Friedrichs, Nicolaus;
Stemmler, Susanne;
Uhlhaas, Siegfried;
Rahner, Nils;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 978, doi. 10.1002/humu.20547

By:

Lu, Zhi-xiang;
Peng, Jia;
Su, Bing

Publication type:

Article

Association of IL4R gene polymorphisms with asthma in Chinese populations.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1046, doi. 10.1002/humu.9508

By:

Zhang, Haibing;
Zhang, Qu;
Wang, Liming;
Chen, Hong;
Li, Yuqin;
Cui, Tianpen;
Huang, Wei;
Zhang, Liangliang;
Yan, Fei;
Wang, Lisa;
Xu, Yiping;
Hu, Landian;
Kong, Xiangyin

Publication type:

Article

SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1005, doi. 10.1002/humu.20554

By:

Sudo, Kaori;
Ito, Hidenori;
Iwamoto, Ikuko;
Morishita, Rika;
Asano, Tomiko;
Nagata, Koh-ichi

Publication type:

Article

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 968, doi. 10.1002/humu.20545

By:

Jamieson, Robyn V.;
Farrar, Nicola;
Stewart, Katrina;
Perveen, Rahat;
Mihelec, Marija;
Carette, Martin;
Grigg, John R.;
McAvoy, John W.;
Lovicu, Frank J.;
Tam, Patrick P.L.;
Scambler, Peter;
Lloyd, I. Christopher;
Donnai, Dian;
Black, Graeme C.M.

Publication type:

Article

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database.

Published in:

2007

By:

Zlotogora, Joël;
van Baal, Sjozef;
Patrinos, George P.

Publication type:

Other

Polyalanine expansions might not result from unequal crossing-over.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1043, doi. 10.1002/humu.20562

By:

Trochet, Delphine;
de Pontual, Loïc;
Keren, Boris;
Munnich, Arnold;
Vekemans, Michel;
Lyonnet, Stanislas;
Amiel, Jeanne

Publication type:

Article

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1045, doi. 10.1002/humu.9506

By:

Mühle, Christiane;
Zenker, Martin;
Chuzhanova, Nadia;
Schneider, Holm

Publication type:

Article

Subtelomeric imbalances in phenotypically normal individuals.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 958, doi. 10.1002/humu.20537

By:

Balikova, Irina;
Menten, Björn;
de Ravel, Thomy;
Le Caignec, Cédric;
Thienpont, Bernard;
Urbina, Montse;
Doco-Fenzy, Martine;
de Rademaeker, Marjan;
Mortier, Geert;
Kooy, Frank;
van Den Ende, Janneke;
Devriendt, Koen;
Fryns, Jean-Pierre;
Speleman, Frank;
Vermeesch, Joris Robert

Publication type:

Article

Mutation database for the galactose-1-phosphate uridyltransferase ( GALT) gene.

Published in:

2007

By:

Calderon, Fernanda R.O.;
Phansalkar, Amit R.;
Crockett, David K.;
Miller, Martin;
Mao, Rong

Publication type:

Other

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1046, doi. 10.1002/humu.9509

By:

Chassaing, Nicolas;
Martin, Ludovic;
Bourthoumieu, Sylvie;
Calvas, Patrick;
Hovnanian, Alain

Publication type:

Article

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 931, doi. 10.1002/humu.20631

By:

Cotton, R.G.H.;
Auerbach, A.D.;
Brown, A.F.;
Carrera, P.;
Christodoulou, J.;
Claustres, M.;
Compton, J.;
Cox, D.W.;
De Baere, E.;
den Dunnen, J.T.;
Greenblatt, M.;
Fujiwara, M.;
Hilbert, P.;
Jani, A.;
Lehvaslaiho, H.;
Nebert, D.W.;
Verma, I.;
Vihinen, M.

Publication type:

Article

Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 993, doi. 10.1002/humu.20550

By:

Rahman, Faisal Abdel;
Ainscough, Justin F.-X.;
Copeland, Nikki;
Coverley, Dawn

Publication type:

Article

Molecular heterogeneity in fetal forms of type II lissencephaly.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1020, doi. 10.1002/humu.20561

By:

Bouchet, C.;
Gonzales, M.;
Vuillaumier-Barrot, S.;
Devisme, L.;
Lebizec, C.;
Alanio, E.;
Bazin, A.;
Bessières-Grattagliano, B.;
Bigi, N.;
Blanchet, P.;
Bonneau, D.;
Bonnières, M.;
Carles, D.;
Delahaye, S.;
Fallet-Bianco, C.;
Figarella-Branger, D.;
Gaillard, D.;
Gasser, B.;
Guimiot, F.;
Joubert, M.

Publication type:

Article

Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 950, doi. 10.1002/humu.20543

By:

Li, Gui-Sen;
Zhu, Li;
Zhang, Hong;
Lv, Ji-Cheng;
Ding, Jia-Xiang;
Zhao, Ming-Hui;
Shen, Yan;
Wang, Hai-Yan

Publication type:

Article