Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 5

Results: 18

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9381

By:

Pischik, Elena;
Mehtälä, Susanna;
Kauppinen, Raili

Publication type:

Article

Genetic variant characterization in intron 4 of the surfactant protein B gene.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9378

By:

Hamvas, Aaron;
Wegner, Daniel J.;
Trusgnich, Michelle A.;
Madden, Katherine;
Heins, Hillary;
Liu, Ying;
Rice, Treva;
An, Ping;
Watkins-Torry, Julie;
Cole, F. Sessions

Publication type:

Article

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 462, doi. 10.1002/humu.20221

By:

Kimberling, William J.

Publication type:

Article

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 477, doi. 10.1002/humu.20243

By:

Northrop, Emma L.;
Ren, Hua;
Bruno, Damien L.;
McGhie, James D. R.;
Coffa, Jordi;
Schouten, Jan;
Choo, K. H. Andy;
Slater, Howard R.

Publication type:

Article

Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 399, doi. 10.1002/humu.20225

By:

Patrinos, George P.;
Kollia, Panagoula;
Papadakis, Manoussos N.

Publication type:

Article

Erratum: the mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 495, doi. 10.1002/humu.9380

By:

Ruf, Nico;
Uhlenberg, Birgit;
Terkeltaub, Robert;
Nürnberg, Peter;
Rutsch, Frank

Publication type:

Article

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377

By:

Arbustini, Eloisa;
Grasso, Maurizia;
Ansaldi, Silvia;
Malattia, Clara;
Pilotto, Andrea;
Porcu, Emanuele;
Disabella, Eliana;
Marziliano, Nicola;
Pisani, Angela;
Lanzarini, Luca;
Mannarino, Savina;
Larizza, Daniela;
Mosconi, Mario;
Antoniazzi, Elena;
Zoia, M. Cristina;
Meloni, Giulia;
Magrassi, Lorenzo;
Brega, Agnese;
Bedeschi, Maria Francesca;
Torrente, Isabella

Publication type:

Article

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 413, doi. 10.1002/humu.20231

By:

Monnier, Nicole;
Kozak-Ribbens, Geneviève;
Krivosic-Horber, Renée;
Nivoche, Yves;
Qi, Dong;
Kraev, Natasha;
Loke, Julian;
Sharma, Parveen;
Tegazzin, Vincenzo;
Figarella-Branger, Dominique;
Roméro, Norma;
Mezin, Paulette;
Bendahan, David;
Payen, Jean-François;
Depret, Thierry;
Maclennan, David H.;
Lunardi, Joël

Publication type:

Article

Predicting the oncogenicity of missense mutations reported in the International Agency for Cancer Research (IARC) mutation database on p53.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 446, doi. 10.1002/humu.20242

By:

Gorlov, Ivan P.;
Gorlova, Olga Y.;
Amos, Christopher I.

Publication type:

Article

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235

By:

Bocciardi, Renata;
Giorda, Roberto;
Marigo, Valeria;
Zordan, Paola;
Montanaro, Donatella;
Gimelli, Stefania;
Seri, Marco;
Lerone, Margherita;
Ravazzolo, Roberto;
Gimelli, Giorgio

Publication type:

Article

Expression of NF1 pseudogenes.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 487, doi. 10.1002/humu.20246

By:

Yu, Haijing;
Zhao, Xiangyi;
Su, Bing;
Li, Dianming;
Xu, Yanhua;
Luo, Songjiao;
Xiao, Chunjie;
Wang, Wen

Publication type:

Article

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 497, doi. 10.1002/humu.9383

By:

Allard, Delphine;
Amsellem, Sabine;
Abifadel, Marianne;
Trillard, Mélanie;
Devillers, Martine;
Luc, Gérald;
Krempf, Michel;
Reznik, Yves;
Girardet, Jean-Philippe;
Fredenrich, Alexandre;
Junien, Claudine;
Varret, Mathilde;
Boileau, Catherine;
Benlian, Pascale;
Rabès, Jean-Pierre

Publication type:

Article

Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 455, doi. 10.1002/humu.20241

By:

Peyvandi, F.;
Garagiola, I.;
Palla, R.;
Marziliano, N.;
Mannucci, P. M.

Publication type:

Article

Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 437, doi. 10.1002/humu.20234

By:

Albrecht, P.;
Ansperger-Rescher, B.;
Schüler, A.;
Zeschnigk, M.;
Gallie, B.;
Lohmann, D.R.

Publication type:

Article

Locus-specific databases: from ethical principles to practice.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 489, doi. 10.1002/humu.20245

By:

Cotton, Richard G. H.;
Sallée, Clémentine;
Knoppers, Bartha M.

Publication type:

Article

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 495, doi. 10.1002/humu.9379

By:

Tesoriero, A. A.;
Wong, E. M.;
Jenkins, M. A.;
Hopper, J. L.;
kConFab;
Brown, M. A.;
Chenevix-Trench, G.;
Spurdle, A. B.;
Southey, M. C.

Publication type:

Article

Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 471, doi. 10.1002/humu.20238

By:

Barenboim, Maxim;
Jamison, D. Curtis;
Vaisman, Iosif I.

Publication type:

Article

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Published in:

Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9382

By:

Trimborn, Marc;
Richter, Reyk;
Sternberg, Nadine;
Gavvovidis, Ioannis;
Schindler, Detlev;
Jackson, Andrew P.;
Prott, Eva-Christina;
Sperling, Karl;
Gillessen-Kaesbach, Gabriele;
Neitzel, Heidemarie

Publication type:

Article