Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 3

Results: 25

RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 260, doi. 10.1002/humu.20287

By:

Palfi, Arpad;
Ader, Marius;
Kiang, Anna-Sophia;
Millington-Ward, Sophia;
Clark, Gerry;
O'Reilly, Mary;
McMahon, Helena P.;
Kenna, Paul F.;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article

Masking selected sequence variation by incorporating mismatches into melting analysis probes.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 269, doi. 10.1002/humu.20290

By:

Margraf, Rebecca L.;
Mao, Rong;
Wittwer, Carl T.

Publication type:

Article

A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 242, doi. 10.1002/humu.20283

By:

Osorio, A.;
Martínez-Delgado, B.;
Pollán, M.;
Cuadros, M.;
Urioste, M.;
Torrenteras, C.;
Melchor, L.;
Díez, O.;
De La Hoya, M.;
Velasco, E.;
González-Sarmiento, R.;
Caldés, T.;
Alonso, C.;
Benítez, J.

Publication type:

Article

Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 294, doi. 10.1002/humu.9411

By:

Martinelli, Marcella;
Scapoli, Luca;
Palmieri, Annalisa;
Pezzetti, Furio;
Baciliero, Ugo;
Padula, Ernesto;
Carinci, Paolo;
Giovanni Morselli, Paolo;
Carinci, Francesco

Publication type:

Article

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9404

By:

Jaijo, T.;
Aller, E.;
Oltra, S.;
Beneyto, M.;
Nájera, C.;
Ayuso, C.;
Baiget, M.;
Carballo, M.;
Antiñolo, G.;
Valverde, D.;
Moreno, F.;
Vilela, C.;
Perez-Garrigues, H.;
Navea, A.;
Millán, J.M.

Publication type:

Article

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9415

By:

Germeshausen, Manuela;
Ballmaier, Matthias;
Welte, Karl

Publication type:

Article

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9408

By:

Heinen, Stefan;
Sanchez-Corral, Pilar;
Jackson, Michael S;
Strain, Lisa;
Goodship, Judith A.;
Kemp, Elizabeth J.;
Skerka, Christine;
Jokiranta, T. Sakari;
Meyers, Kevin;
Wagner, Eric;
Robitaille, Pierre;
Esparza-Gordillo, Jorge;
Rodriguez de Cordoba, Santiago;
Zipfel, Peter F.;
Goodship, Timothy H.J.

Publication type:

Article

DRD4 gene variant associated with body mass: The National Longitudinal Study of Adolescent Health.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 236, doi. 10.1002/humu.20282

By:

Guo, Guang;
North, Kari;
Choi, Seulki

Publication type:

Article

Distribution of human SNPs and its effect on high-throughput genotyping.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 249, doi. 10.1002/humu.20286

By:

Koboldt, Daniel C.;
Miller, Raymond D.;
Kwok, Pui-Yan

Publication type:

Article

Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 279, doi. 10.1002/humu.20300

By:

Zerefos, Panayotis G.;
Ioannou, Penelope C.;
Traeger-Synodinos, Joanne;
Dimissianos, Gerasimos;
Kanavakis, Emmanuel;
Christopoulos, Theodore K.

Publication type:

Article

PTCH mutations: distribution and analyses.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 215, doi. 10.1002/humu.20296

By:

Lindström, Erika;
Shimokawa, Takashi;
Toftgård, Rune;
Zaphiropoulos, Peter G.

Publication type:

Article

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 295, doi. 10.1002/humu.9413

By:

Fernandez-L, Africa;
Sanz-Rodriguez, Francisco;
Zarrabeitia, Roberto;
Perez-Molino, Alfonso;
Morales, Carmelo;
Restrepo, Carlos M.;
Ramirez, Jose R.;
Coto, Eliecer;
Lenato, Gennaro M.;
Bernabeu, Carmelo;
Botella, Luisa M.

Publication type:

Article

2005 Human Genome Variation Society Scientific Meeting.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 286, doi. 10.1002/humu.20297

By:

Oetting, William S.

Publication type:

Article

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9407

By:

Montagna, Giorgia;
Teijido, Oscar;
Eymard-Pierre, Eleonore;
Muraki, Koutarou;
Cohen, Bruce;
Loizzo, Annalivia;
Grosso, Pietro;
Tedeschi, Gioacchino;
Palacín, Manuel;
Boespflug-Tanguy, Odile;
Bertini, Enrico;
Santorelli, Filippo M.;
Estévez, Raúl

Publication type:

Article

Mutations in EDAR account for one-quarter of non- ED1-related hypohidrotic ectodermal dysplasia.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 255, doi. 10.1002/humu.20295

By:

Chassaing, N.;
Bourthoumieu, S.;
Cossee, M.;
Calvas, P.;
Vincent, M.-C.

Publication type:

Article

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 293, doi. 10.1002/humu.9410

By:

Nemer, Georges;
Fadlalah, Fatimah;
Usta, Julnar;
Nemer, Mona;
Dbaibo, Ghassan;
Obeid, Mounir;
Bitar, Fadi

Publication type:

Article

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9403

By:

Hellemans, Jan;
Debeer, Philippe;
Wright, Michael;
Janecke, Andreas;
Kjaer, Klaus W.;
Verdonk, Peter C.M.;
Savarirayan, Ravi;
Basel, Lina;
Moss, Celia;
Roth, Johannes;
David, Albert;
De Paepe, Anne;
Coucke, Paul;
Mortier, Geert R.

Publication type:

Article

Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 295, doi. 10.1002/humu.9414

By:

Duponchel, Christiane;
Djenouhat, Kamel;
Frémeaux-Bacchi, Véronique;
Monnier, Nicole;
Drouet, Christian;
Tosi, Mario

Publication type:

Article

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 291, doi. 10.1002/humu.9406

By:

Titeux, Matthias;
Mejía, José Enrique;
Mejlumian, Luciné;
Bourthoumieu, Sylvie;
Mirval, Sandra;
Tonasso, Laure;
Heller, Michel;
Prost-Squarcioni, Catherine;
Hovnanian, Alain

Publication type:

Article

Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.

Published in:

2006

By:

Tan, Ene-choo;
Loh, Marie;
Chuon, Danny;
Lim, Yun Ping

Publication type:

Other

Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and SUR1 ( ABCC8) in diabetes mellitus and hyperinsulinism.

Published in:

2006

By:

Gloyn, Anna L.;
Siddiqui, Juveria;
Ellard, Sian

Publication type:

Other

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 ( NF1) due to intronic sequence exonization.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 294, doi. 10.1002/humu.9412

By:

Raponi, M.;
Upadhyaya, M.;
Baralle, D.

Publication type:

Article

Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 291, doi. 10.1002/humu.9405

By:

Jääskeläinen, Jarmo;
Mongan, Nigel P.;
Harland, Sharon;
Hughes, Ieuan A.

Publication type:

Article

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9416

By:

Bermúdez, Marta;
Frank, Nina;
Bernal, Jaime;
Urreizti, Roser;
Briceño, Ignacio;
Merinero, Begoña;
Perez-Cerdá, Celia;
Ugarte, Magdalena;
Grinberg, Daniel;
Balcells, Susana;
Kraus, Jan P.

Publication type:

Article

Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene.

Published in:

Human Mutation, 2006, v. 27, n. 3, p. 293, doi. 10.1002/humu.9409

By:

Merx, Sabine;
Zimmer, Wilma;
Neumaier, Michael;
Ahmad-Nejad, Parviz

Publication type:

Article