Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 11

Results: 21

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9467

By:

Lonie, Lorne;
Porter, Daniel E.;
Fraser, Maria;
Cole, Trevor;
Wise, Carol;
Yates, Laura;
Wakeling, Emma;
Blair, Ed;
Morava, Eva;
Monaco, Anthony P.;
Ragoussis, Jiannis

Publication type:

Article

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1135, doi. 10.1002/humu.20390

By:

González, Juan R.;
Wang, Wenyi;
Ballana, Ester;
Estivill, Xavier

Publication type:

Article

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1143, doi. 10.1002/humu.20398

By:

Stef, Marianne;
Simon, Delphine;
Burgelin, Ingrid;
Guisle, Isabelle;
Chevalier, Catherine;
Delrue, Marie-Ange;
Lacombe, Didier;
Léger, Jean;
Arveiler, Benoît

Publication type:

Article

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1157, doi. 10.1002/humu.9462

By:

Krause, Cindy;
Rosewich, Hendrik;
Thanos, Melissa;
Gärtner, Jutta

Publication type:

Article

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9466

By:

Repiso, Ada;
Oliva, Baldomero;
Vives-Corrons, Joan-Lluis;
Beutler, Ernest;
Carreras, José;
Climent, Fernando

Publication type:

Article

High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1156, doi. 10.1002/humu.20438

By:

Richards, Allan J.;
Laidlaw, Maureen;
Whittaker, Joanne;
Treacy, Becky;
Rai, Harjeet;
Bearcroft, Philip;
Baguley, David M.;
Poulson, Arabella;
Ang, Alan;
Scott, John D.;
Snead, Martin P.

Publication type:

Article

Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1157, doi. 10.1002/humu.9461

By:

Awad, Mark M.;
Dalal, Darshan;
Tichnell, Crystal;
James, Cynthia;
Tucker, April;
Abraham, Theodore;
Spevak, Philip J.;
Calkins, Hugh;
Judge, Daniel P.

Publication type:

Article

Identification of novel mutations in the human ornithine transcarbamylase ( OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9465

By:

Kim, Gu-Hwan;
Choi, Jin-Ho;
Lee, Hyung-Haon;
Park, Sangwook;
Kim, Sung-Su;
Yoo, Han-Wook

Publication type:

Article

Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1072, doi. 10.1002/humu.20378

By:

Ruiz-Pesini, Eduardo;
Wallace, Douglas C.

Publication type:

Article

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1065, doi. 10.1002/humu.20352

By:

Christodoulou, John;
Craig, Hugh J.;
Walker, David C.;
Weaving, Linda S.;
Pearson, Christopher E.;
McInnes, Roderick R.

Publication type:

Article

Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392

By:

Oh, Kyu-Seon;
Khan, Sikandar G.;
Jaspers, N.G.J.;
Raams, Anja;
Ueda, Takahiro;
Lehmann, Alan;
Friedmann, Peter S.;
Emmert, Steffen;
Gratchev, Alexi;
Lachlan, Katherine;
Lucassan, Anneke;
Baker, Carl C.;
Kraemer, Kenneth H.

Publication type:

Article

Long-range PCR facilitates the identification of PMS2-specific mutations.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1155, doi. 10.1002/humu.20437

By:

Clendenning, Mark;
Hampel, Heather;
LaJeunesse, Jennifer;
Lindblom, Annika;
Lockman, Jan;
Nilbert, Mef;
Senter, Leigha;
Sotamaa, Kaisa;
de la Chapelle, Albert

Publication type:

Article

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1104, doi. 10.1002/humu.20396

By:

Pros, Eva;
Larriba, Sara;
López, Eva;
Ravella, Anna;
Gili, M. Lluïsa;
Kruyer, Helena;
Valls, Joan;
Serra, Eduard;
Lázaro, Conxi

Publication type:

Article

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1122, doi. 10.1002/humu.20415

By:

Bernstein, J.L.;
Teraoka, S.;
Southey, M.C.;
Jenkins, M.A.;
Andrulis, I.L.;
Knight, J.A.;
John, E.M.;
Lapinski, R.;
Wolitzer, A.L.;
Whittemore, A.S.;
West, D.;
Seminara, D.;
Olson, E.R.;
Spurdle, A.B.;
Chenevix-Trench, G.;
Giles, G.G.;
Hopper, J.L.;
Concannon, P.

Publication type:

Article

Deficient membrane integration of the novel p.N14D -GJB2 mutant associated with non-syndromic hearing impairment.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9464

By:

Haack, B.;
Schmalisch, K.;
Palmada, M.;
Böhmer, C.;
Kohlschmidt, N.;
Keilmann, A.;
Zechner, U.;
Limberger, A.;
Beckert, S.;
Zenner, H.P.;
Lang, F.;
Kupka, S.

Publication type:

Article

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9463

By:

Schreyer-Shafir, Nira;
Huizing, Marjan;
Anikster, Yair;
Nusinker, Ziva;
Bejarano-Achache, Idit;
Maftzir, Genia;
Resnik, Luba;
Helip-Wooley, Amanda;
Westbroek, Wendy;
Gradstein, Libe;
Rosenmann, Ada;
Blumenfeld, Anat

Publication type:

Article

MUT-TP53: a versatile matrix for TP53 mutation verification and publication.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1151, doi. 10.1002/humu.20395

By:

Soussi, Thierry;
Rubio-Nevado, Jean Michel;
Ishioka, Chikashi

Publication type:

Article

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1129, doi. 10.1002/humu.20377

By:

ElSharawy, Abdou;
Manaster, Carl;
Teuber, Markus;
Rosenstiel, Philip;
Kwiatkowski, Ruta;
Huse, Klaus;
Platzer, Matthias;
Becker, Albert;
Nürnberg, Peter;
Schreiber, Stefan;
Hampe, Jochen

Publication type:

Article

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388

By:

Stum, Morgane;
Davoine, Claire-Sophie;
Vicart, Savine;
Guillot-Noël, Léna;
Topaloglu, Haluk;
Carod-Artal, Francisco Javier;
Kayserili, Hülya;
Hentati, Fayçal;
Merlini, Luciano;
Urtizberea, Jon Andoni;
Hammouda, EL-Hadi;
Quan, Phuc Canh;
Fontaine, Bertrand;
Nicole, Sophie

Publication type:

Article

Long contiguous stretches of homozygosity in the human genome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1115, doi. 10.1002/humu.20399

By:

Li, Ling-Hui;
Ho, Sheng-Feng;
Chen, Chien-Hsiun;
Wei, Chun-Yu;
Wong, Wan-Ching;
Li, Li-Ying;
Hung, Shuen-Iu;
Chung, Wen-Hung;
Pan, Wen-Han;
Lee, Ming-Ta M.;
Tsai, Fuu-Jen;
Chang, Ching-Fen;
Wu, Jer-Yuarn;
Chen, Yuan-Tsong

Publication type:

Article

Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9468

By:

Picard, Véronique;
Nowak-Göttl, Ulrike;
Biron-Andreani, Christine;
Fouassier, Marc;
Frere, Corinne;
Goualt-Heilman, Michèle;
de Maistre, Emmanuel;
Regina, Sandra;
Rugeri, Lucia;
Ternisien, Catherine;
Trichet, Catherine;
Vergnes, Christine;
Aiach, Martine;
Alhenc-Gelas, Martine

Publication type:

Article