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

Results: 21

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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