Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 2

Results: 22

The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 332, doi. 10.1002/humu.9523

By:

Perera, Sheron;
Bapat, Bharati

Publication type:

Article

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 258, doi. 10.1002/humu.20642

By:

Guglieri, Michela;
Magri, Francesca;
D'Angelo, Maria Grazia;
Prelle, Alessandro;
Morandi, Lucia;
Rodolico, Carmelo;
Cagliani, Rachele;
Mora, Marina;
Fortunato, Francesco;
Bordoni, Andreina;
Del Bo, Roberto;
Ghezzi, Serena;
Pagliarani, Serena;
Lucchiari, Sabrina;
Salani, Sabrina;
Zecca, Chiara;
Lamperti, Costanza;
Ronchi, Dario;
Aguennouz, Mohammed;
Ciscato, Patrizia

Publication type:

Article

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 299, doi. 10.1002/humu.20657

By:

Etzler, J.;
Peyrl, A.;
Zatkova, A.;
Schildhaus, H-U.;
Ficek, A.;
Merkelbach-Bruse, S.;
Kratz, C.P.;
Attarbaschi, A.;
Hainfellner, J.A.;
Yao, S.;
Messiaen, L.;
Slavc, I.;
Wimmer, K.

Publication type:

Article

A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 332, doi. 10.1002/humu.9522

By:

Wang, Hongyan;
Sammel, Mary D.;
Tromp, Gerard;
Gotsch, Francesca;
Halder, Indrani;
Shriver, Mark D.;
Romero, Roberto;
Strauss, Jerome F.

Publication type:

Article

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 248, doi. 10.1002/humu.20639

By:

Ballana, Ester;
Govea, Nancy;
de Cid, Rafael;
Garcia, Cecilia;
Arribas, Carles;
Rosell, Jordi;
Estivill, Xavier

Publication type:

Article

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 227, doi. 10.1002/humu.20679

By:

Sestini, Roberta;
Bacci, Costanza;
Provenzano, Aldesia;
Genuardi, Maurizio;
Papi, Laura

Publication type:

Article

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9519

By:

Dimmock, D. P.;
Zhang, Q.;
Dionisi-Vici, C.;
Carrozzo, R.;
Shieh, J.;
Tang, L-Y;
Truong, C.;
Schmitt, E.;
Sifry-Platt, M.;
Lucioli, S.;
Santorelli, F.M.;
Ficicioglu, C.H.;
Rodriguez, M.;
Wierenga, K.;
Enns, G.M.;
Longo, N.;
Lipson, M.H.;
Vallance, H.;
Craigen, W.J.;
Scaglia, F.

Publication type:

Article

Myocilin allele-specific glaucoma phenotype database.

Published in:

2008

By:

Hewitt, Alex W.;
Mackey, David A.;
Craig, Jamie E.

Publication type:

Other

An XML-based interchange format for genotype-phenotype data.

Published in:

2008

By:

Whirl-Carrillo, M.;
Woon, M.;
Thorn, C.F.;
Klein, T.E.;
Altman, R.B.

Publication type:

Other

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 232, doi. 10.1002/humu.20616

By:

Denayer, Ellen;
Parret, Annabel;
Chmara, Magdalena;
Schubbert, Suzanne;
Vogels, Annick;
Devriendt, Koen;
Frijns, Jean-Pierre;
Rybin, Vladimir;
de Ravel, Thomy J.;
Shannon, Kevin;
Cools, Jan;
Scheffzek, Klaus;
Legius, Eric

Publication type:

Article

Myoclonus-dystonia: significance of large SGCE deletions.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9521

By:

Grünewald, A.;
Djarmati, A.;
Lohmann-Hedrich, K.;
Farrell, K.;
Zeller, J.A.;
Allert, N.;
Papengut, F.;
Petersen, B.;
Fung, V.;
Sue, C.M.;
O'Sullivan, D.;
Mahant, N.;
Kupsch, A.;
Chuang, R.S.;
Wiegers, K.;
Pawlack, H.;
Hagenah, J.;
Ozelius, L.J.;
Stephani, U.;
Schuit, R.

Publication type:

Article

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 277, doi. 10.1002/humu.20649

By:

Nogales-Gadea, Gisela;
Rubio, Juan Carlos;
Fernandez-Cadenas, Israel;
Garcia-Consuegra, Ines;
Lucia, Alejandro;
Cabello, Ana;
Garcia-Arumi, Elena;
Arenas, Joaquin;
Andreu, Antoni L.;
Martín, Miguel A.

Publication type:

Article

Novel mutations in exon 2 of MATN3 affect residues within the α-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9518

By:

Fresquet, Maryline;
Jackson, Gail C.;
Loughlin, John;
Briggs, Michael D.

Publication type:

Article

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 306, doi. 10.1002/humu.20622

By:

Li, Cai-Xia;
Pan, Qian;
Guo, Yong-Gang;
Li, Yan;
Gao, Hua-Fang;
Zhang, Di;
Hu, Hao;
Xing, Wan-Li;
Mitchelson, Keith;
Xia, Kun;
Dai, Pu;
Cheng, Jing

Publication type:

Article

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656

By:

Schwabe, Georg C.;
Hoffmann, Katrin;
Loges, Niki Tomas;
Birker, Daniel;
Rossier, Colette;
de Santi, Margherita M.;
Olbrich, Heike;
Fliegauf, Manfred;
Failly, Mike;
Liebers, Uta;
Collura, Mirella;
Gaedicke, Gerhard;
Mundlos, Stefan;
Wahn, Ulrich;
Blouin, Jean-Louis;
Niggemann, Bodo;
Omran, Heymut;
Antonarakis, Stylianos E.;
Bartoloni, Lucia

Publication type:

Article

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 240, doi. 10.1002/humu.20633

By:

Saccone, Valentina;
Palmieri, Michela;
Passamano, Luigia;
Piluso, Giulio;
Meroni, Germana;
Politano, Luisa;
Nigro, Vincenzo

Publication type:

Article

Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threads.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 323, doi. 10.1002/humu.20655

By:

Pettersson, Erik;
Zajac, Pawel;
Ståhl, Patrik L.;
Jacobsson, Josefin A.;
Fredriksson, Robert;
Marcus, Claude;
Schiöth, Helgi B.;
Lundeberg, Joakim;
Ahmadian, Afshin

Publication type:

Article

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9520

By:

Shimotori, Masaaki;
Maruyama, Hiroki;
Nakamura, Gen;
Suyama, Takayuki;
Sakamoto, Fumiko;
Itoh, Masaaki;
Miyabayashi, Shigeaki;
Ohnishi, Takahiro;
Sakai, Norio;
Wataya-Kaneda, Mari;
Kubota, Mitsuru;
Takahashi, Toshiyuki;
Mori, Tatsuhiko;
Tamura, Katsuhiko;
Kageyama, Shinji;
Shio, Nobuo;
Maeba, Teruhiko;
Yahagi, Hirokazu;
Tanaka, Motoko;
Oka, Masayo

Publication type:

Article

Genomewide SNP assay reveals mutations underlying Parkinson disease.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 315, doi. 10.1002/humu.20626

By:

Simon-Sanchez, Javier;
Scholz, Sonja;
del Mar Matarin, Maria;
Fung, Hon-Chung;
Hernandez, Dena;
Gibbs, J Raphael;
Britton, Angela;
Hardy, John;
Singleton, Andrew

Publication type:

Article

PIK3CA cancer mutations display gender and tissue specificity patterns.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 284, doi. 10.1002/humu.20648

By:

Benvenuti, Silvia;
Frattini, Milo;
Arena, Sabrina;
Zanon, Carlo;
Cappelletti, Vera;
Coradini, Danila;
Grazia Daidone, Maria;
Pilotti, Silvana;
Pierotti, Marco A.;
Bardelli, Alberto

Publication type:

Article

Syndromic true hermaphroditism due to an R-spondin1 ( RSPO1) homozygous mutation.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 220, doi. 10.1002/humu.20665

By:

Tomaselli, Sara;
Megiorni, Francesca;
De Bernardo, Carmelilia;
Felici, Aldo;
Marrocco, Giacinto;
Maggiulli, Giorgio;
Grammatico, Barbara;
Remotti, Daniele;
Saccucci, Pietro;
Valentini, Ferdinando;
Mazzilli, Maria Cristina;
Majore, Silvia;
Grammatico, Paola

Publication type:

Article

A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 267, doi. 10.1002/humu.20647

By:

Titeux, Matthias;
Pendaries, Valérie;
Tonasso, Laure;
Décha, Audrey;
Bodemer, Christine;
Hovnanian, Alain

Publication type:

Article