Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 3

Results: 27

Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 280, doi. 10.1002/humu.9358

By:

Cox, D.W.;
Prat, L.;
Walshe, J.M.;
Heathcote, J.;
Gaffney, D.

Publication type:

Article

A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 274, doi. 10.1002/humu.20218

By:

Montfort, Magda;
Chabás, Amparo;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 255, doi. 10.1002/humu.20216

By:

Charbonnier, Françoise;
Baert-Desurmont, Stephanie;
Liang, Ping;
Di Fiore, Frederic;
Martin, Cosette;
Frerot, Stephanie;
Olschwang, Sylviane;
Wang, Qing;
Buisine, Marie-Pierre;
Gilbert, Brigitte;
Nilbert, Mef;
Lindblom, Annika;
Frebourg, Thierry

Publication type:

Article

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 235, doi. 10.1002/humu.20206

By:

Miksch, Sara;
Lumsden, Amanda;
Guenther, Ulf P.;
Foernzler, Dorothee;
Christen-Zäch, Stéphanie;
Daugherty, Carol;
Ramesar, Raj Kumar S.;
Lebwohl, Mark;
Hohl, Daniel;
Neldner, Kenneth H.;
Lindpaintner, Klaus;
Richards, Robert I.;
Struk, Berthold

Publication type:

Article

Gaucher mutation N188S is associated with myoclonic epilepsy.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 271, doi. 10.1002/humu.20217

By:

Kowarz, Laurence;
Goker-Alpan, Ozlem;
Banerjee-Basu, Sharmila;
LaMarca, Mary E.;
Kinlaw, Leah;
Schiffmann, Raphael;
Baxevanis, Andreas D.;
Sidransky, Ellen

Publication type:

Article

Strong bias in the location of functional promoter polymorphisms.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 214, doi. 10.1002/humu.20207

By:

Buckland, Paul R.;
Hoogendoorn, Bastiaan;
Coleman, Sharon L.;
Guy, Carol A.;
Smith, S. Kaye;
O'Donovan, Michael C.

Publication type:

Article

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 205, doi. 10.1002/humu.20212

By:

Ball, Edward V.;
Stenson, Peter D.;
Abeysinghe, Shaun S.;
Krawczak, Michael;
Cooper, David N.;
Chuzhanova, Nadia A.

Publication type:

Article

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9362

By:

Botzenhart, Elke M.;
Green, Andrew;
Ilyina, Helena;
König, Rainer;
Lowry, R. Brian;
Lo, Ivan F. M.;
Shohat, Mordechai;
Burke, Leah;
McGaughran, Julie;
Chafai, Ronit;
Pierquin, Geneviève;
Michaelis, Ron C;
Whiteford, Margo L.;
Simola, Kalle O. J.;
Rösler, Bernd;
Kohlhase, Jürgen

Publication type:

Article

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 284, doi. 10.1002/humu.9366

By:

Teugels, Erik;
De Brakeleer, Sylvia;
Goelen, Guido;
Lissens, Willy;
Sermijn, Erica;
De Grève, Jacques

Publication type:

Article

Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 262, doi. 10.1002/humu.20213

By:

Bergen, Andrew W.;
Haque, Kashif A.;
Qi, Ying;
Beerman, Michael B.;
Garcia-Closas, Montserrat;
Rothman, Nathaniel;
Chanock, Stephen J.

Publication type:

Article

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 280, doi. 10.1002/humu.9359

By:

Pedrini, Elena;
De Luca, Alessandro;
Valente, Enza Maria;
Maini, Veronica;
Capponcelli, Silvia;
Mordenti, Marina;
Mingarelli, Rita;
Sangiorgi, Luca;
Dallapiccola, Bruno

Publication type:

Article

LDL-receptor mutations in Europe.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 277, doi. 10.1002/humu.20223

By:

Genschel, Janine;
Dedoussis, George V.Z.;
Schmidt, Hartmut H.-J.

Publication type:

Article

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9361

By:

Riant, Florence;
De Fusco, Maurizio;
Aridon, Paolo;
Ducros, Anne;
Ploton, Claire;
Marchelli, Florence;
Maciazek, Jacqueline;
Bousser, Marie Germaine;
Casari, Giorgio;
Tournier-Lasserve, Elisabeth

Publication type:

Article

DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 283, doi. 10.1002/humu.9365

By:

Marsh, A.;
Wicking, C.;
Wainwright, B.;
Chenevix-Trench, G.

Publication type:

Article

Scanning of genetic effects of alcohol metabolism gene ( ADH1B and ADH1C) polymorphisms on the risk of alcoholism.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 224, doi. 10.1002/humu.20209

By:

Choi, Ihn-Geun;
Son, Hyun-Gyun;
Yang, Byung-Hwan;
Kim, Seok Hyeon;
Lee, Jun-Suk;
Chai, Young-Gyu;
Son, Bong Ki;
Kee, Baik Seok;
Park, Byung Lae;
Kim, Lyoung Hyo;
Choi, Yoo Hyun;
Shin, Hyoung Doo

Publication type:

Article

Mutation spectrum of the APC gene in 83 Korean FAP families.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9360

By:

Kim, Duck-Woo;
Kim, Il-Jin;
Kang, Hio Chung;
Park, Hye-Won;
Shin, Yong;
Park, Jae-Hyun;
Jang, Sang-Geun;
Yoo, Byong Chul;
Lee, Min Ro;
Hong, Chang Won;
Park, Kyu Joo;
Oh, Nahm-Gun;
Kim, Nam Kyu;
Sung, Moo Kyung;
Lee, Bong Wha;
Kim, Young Jin;
Lee, Hyucksang;
Park, Jae-Gahb

Publication type:

Article

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 167, doi. 10.1002/humu.20211

By:

Crane, Denis I.;
Maxwell, Megan A.;
Paton, Barbara C.

Publication type:

Article

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 279, doi. 10.1002/humu.9357

By:

Kaindl, Angela M.;
Jakubiczka, Sibylle;
Lücke, Thomas;
Bartsch, Oliver;
Weis, Joachim;
Stoltenburg-Didinger, Gisela;
Aksu, Fuat;
Oexle, Konrad;
Koehler, Katrin;
Huebner, Angela

Publication type:

Article

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 283, doi. 10.1002/humu.9364

By:

Cagliani, Rachele;
Magri, Francesca;
Toscano, Antonio;
Merlini, Luciano;
Fortunato, Francesco;
Lamperti, Costanza;
Rodolico, Carmelo;
Prelle, Alessandro;
Sironi, Manuela;
Aguennouz, Mohammed;
Ciscato, Patrizia;
Uncini, Antonino;
Moggio, Maurizio;
Bresolin, Nereo;
Comi, Giacomo P.

Publication type:

Article

UMD (Universal Mutation Database): 2005 update.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 184, doi. 10.1002/humu.20210

By:

Béroud, Christophe;
Hamroun, Dalil;
Collod-Béroud, Gwenaëlle;
Boileau, Catherine;
Soussi, Thierry;
Claustres, Mireille

Publication type:

Article

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 192, doi. 10.1002/humu.20214

By:

Saunders, Rebecca E.;
O'Connell, Niamh M.;
Lee, Christine A.;
Perry, David J.;
Perkins, Stephen J.

Publication type:

Article

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 176, doi. 10.1002/humu.20215

By:

Kohlhase, Jürgen;
Chitayat, David;
Kotzot, Dieter;
Ceylaner, Serdar;
Froster, Ursula G.;
Fuchs, Sigrun;
Montgomery, Tara;
Rösler, Bernd

Publication type:

Article

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9363

By:

Montalvo, Anna Lisa E.;
Filocamo, Mirella;
Vlahoviček, Kristian;
Dardis, Andrea;
Lualdi, Susanna;
Corsolini, Fabio;
Bembi, Bruno;
Pittis, Maria Gabriela

Publication type:

Article

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 249, doi. 10.1002/humu.20208

By:

Bogdanova, Nadja;
Markoff, Arseni;
Pollmann, Hartmut;
Nowak-Göttl, Ulrike;
Eisert, Roswith;
Wermes, Cornelia;
Todorova, Albena;
Eigel, Antonin;
Dworniczak, Bernd;
Horst, Jürgen

Publication type:

Article

Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifier' polymorphisms.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 276, doi. 10.1002/humu.20219

By:

Montfort, Magda;
Chabás, Amparo;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 279, doi. 10.1002/humu.9356

By:

Maxwell, Megan A.;
Leane, Pamela B.;
Paton, Barbara C.;
Crane, Denis I.

Publication type:

Article

Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 199, doi. 10.1002/humu.20203

By:

Kim, Unkyung;
Wooding, Stephen;
Ricci, Dante;
Jorde, Lynn B.;
Drayna, Dennis

Publication type:

Article