Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 3

Results: 17

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 261, doi. 10.1002/humu.20078

By:

Cowie, Shannon;
Drmanac, Snezana;
Swanson, Donald;
Delgrosso, Kathleen;
Huang, Steve;
du Sart, Desirée;
Drmanac, Radoje;
Surrey, Saul;
Fortina, Paolo

Publication type:

Article

Erratum: Novel MC1R variants in ligurian melanoma patients and controls.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 274, doi. 10.1002/humu.9271

By:

Pastorino, Lorenza;
Cusano, Roberto;
Bruno, William;
Lantieri, Francesca;
Origone, Paola;
Barile, Monica;
Gliori, Sara;
Shepherd, Graeme A.;
Sturm, Richard A.;
Bianchi-Scarra, Giovanna

Publication type:

Article

Erratum: BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 275, doi. 10.1002/humu.9273

By:

Morisaki, Hiroko;
Nakanishi, Norifumi;
Kyotani, Shingo;
Takashima, Atsushi;
Tomoike, Hitonobu;
Morisaki, Takayuki

Publication type:

Article

Infevers: An evolving mutation database for auto-inflammatory syndromes.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 194, doi. 10.1002/humu.20080

By:

Touitou, Isabelle;
Lesage, Suzanne;
McDermott, Michael;
Cuisset, Laurence;
Hoffman, Hal;
Dode, Catherine;
Shoham, Nitza;
Aganna, Ebun;
Hugot, Jean-Pierre;
Wise, Carol;
Waterham, Hans;
Pugnere, Denis;
Demaille, Jacques;
de Menthiere, Cyril Sarrauste

Publication type:

Article

Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 248, doi. 10.1002/humu.20077

By:

Shen, Peidong;
Lavi, Tal;
Kivisild, Toomas;
Chou, Vivian;
Sengun, Deniz;
Gefel, Dov;
Shpirer, Issac;
Woolf, Eilon;
Hillel, Jossi;
Feldman, Marcus W.;
Oefner, Peter J.

Publication type:

Article

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 272, doi. 10.1002/humu.9266

By:

Shah, Gul N.;
Bonapace, Giuseppe;
Hu, Peiyi Y.;
Strisciuglio, Pietro;
Sly, William S.

Publication type:

Article

Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 199, doi. 10.1002/humu.20081

By:

Yogalingam, G.;
Guo, X.-H.;
Muller, V.J.;
Brooks, D.A.;
Clements, P.R.;
Kakkis, E.D.;
Hopwood, J.J.

Publication type:

Article

Possible gene dosage effect of glutathione-S-transferases on atopic asthma: Using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 208, doi. 10.1002/humu.20074

By:

Brasch-Andersen, Charlotte;
Christiansen, Lene;
Tan, Qihua;
Haagerup, Annette;
Vestbo, Jørgen;
Kruse, Torben A.

Publication type:

Article

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9268

By:

Azevedo, Luísa;
Climent, Consuelo;
Vilarinho, Laura;
Calafell, F.;
Amorim, António

Publication type:

Article

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 225, doi. 10.1002/humu.20076

By:

Susani, Lucia;
Pangrazio, Alessandra;
Sobacchi, Cristina;
Taranta, Anna;
Mortier, Geert;
Savarirayan, Ravi;
Villa, Anna;
Orchard, Paul;
Vezzoni, Paolo;
Albertini, Alberto;
Frattini, Annalisa;
Pagani, Franco

Publication type:

Article

Splice-site genetic polymorphism of the human kallikrein 12 ( KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9270

By:

Shinmura, Kazuya;
Tao, Hong;
Yamada, Hidetaka;
Kataoka, Hideki;
Sanjar, Ravshanov;
Wang, Jiandong;
Yoshimura, Kimio;
Sugimura, Haruhiko

Publication type:

Article

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 272, doi. 10.1002/humu.9267

By:

Sharp, Andrew;
Pichert, Gabriella;
Lucassen, Anneke;
Eccles, Diana

Publication type:

Article

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 215, doi. 10.1002/humu.20082

By:

Gallou, Catherine;
Chauveau, Dominique;
Richard, Stéphane;
Joly, Dominique;
Giraud, Sophie;
Olschwang, Sylviane;
Martin, Natacha;
Saquet, Céline;
Chrétien, Yves;
Méjean, Arnaud;
Correas, Jean-Michel;
Benoît, Gérard;
Colombeau, Pierre;
Grünfeld, Jean-Pierre;
Junien, Claudine;
Béroud, Christophe

Publication type:

Article

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 236, doi. 10.1002/humu.20075

By:

Sobczak, Krzysztof;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

The human FOXL2 mutation database.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 189, doi. 10.1002/humu.20079

By:

Beysen, Diane;
Vandesompele, Jo;
Messiaen, Ludwine;
De Paepe, Anne;
De Baere, Elfride

Publication type:

Article

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss ( DFNA11).

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 274, doi. 10.1002/humu.9272

By:

Bolz, Hanno;
Bolz, Steffen-Sebastian;
Schade, Götz;
Kothe, Christian;
Mohrmann, Gerrit;
Hess, Markus;
Gal, Andreas

Publication type:

Article

IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 273, doi. 10.1002/humu.9269

By:

Zhang, Yao-Hua;
Huang, Bing-Ling;
Niakan, Kathy K.;
McCabe, Linda L.;
McCabe, Edward R.B.;
Dipple, Katrina M.

Publication type:

Article