Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 5

Results: 27

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.

Published in:

2009

By:

Singh, Shweta;
Ganesh, Subramaniam

Publication type:

Other

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

Published in:

2009

By:

Paznekas, William A.;
Karczeski, Barbara;
Vermeer, Sascha;
Lowry, R. Brian;
Delatycki, Martin;
Laurence, Faivre;
Koivisto, Pasi A.;
Van Maldergem, Lionel;
Boyadjiev, Simeon A.;
Bodurtha, Joann N.;
Wang Jabs, Ethylin

Publication type:

Other

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 757, doi. 10.1002/humu.20936

By:

Arnold, Sven;
Buchanan, Daniel D.;
Barker, Melissa;
Jaskowski, Lesley;
Walsh, Michael D.;
Birney, Genevieve;
Woods, Michael O.;
Hopper, John L.;
Jenkins, Mark A.;
Brown, Melissa A.;
Tavtigian, Sean V.;
Goldgar, David E.;
Young, Joanne P.;
Spurdle, Amanda B.

Publication type:

Article

Clinical Genetics & Human Genome Variation: The 2008 Human Genome Variation Society Scientific Meeting.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 852, doi. 10.1002/humu.20987

By:

Oetting, William S.

Publication type:

Article

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022

By:

Martoni, Elena;
Urciuolo, Anna;
Sabatelli, Patrizia;
Fabris, Marina;
Bovolenta, Matteo;
Neri, Marcella;
Grumati, Paolo;
D'Amico, Adele;
Pane, Marika;
Mercuri, Eugenio;
Bertini, Enrico;
Merlini, Luciano;
Bonaldo, Paolo;
Ferlini, Alessandra;
Gualandi, Francesca

Publication type:

Article

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 823, doi. 10.1002/humu.20969

By:

Meili, David;
Kralovicova, Jana;
Zagalak, Julian;
Bonafé, Luisa;
Fiori, Laura;
Blau, Nenad;
Thöny, Beat;
Vorechovsky, Igor

Publication type:

Article

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 795, doi. 10.1002/humu.20960

By:

Vega, Ana I.;
Pérez-Cerdá, Celia;
Desviat, Lourdes R.;
Matthijs, Gert;
Ugarte, Magdalena;
Pérez, Belén

Publication type:

Article

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 811, doi. 10.1002/humu.20971

By:

Pérez Oliva, Ana B.;
Fernéndez, Lara P.;
DeTorre, Carlos;
Herráiz, Cecilia;
Martínez-Escribano, Jorge A.;
Benítez, Javier;
Lozano Teruel, José A.;
García-Borrón, José C.;
Jiménez-Cervantes, Celia;
Ribas, Gloria

Publication type:

Article

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E629, doi. 10.1002/humu.20993

By:

Hayward, Bruce E.;
De Vos, Michel;
Talati, Nargese;
Abdollahi, M. Reza;
Taylor, Graham R.;
Meyer, Esther;
Williams, Denise;
Maher, Eamonn R.;
Setna, Faridon;
Nazir, Kausar;
Hussaini, Shahnaz;
Jafri, Hussain;
Rashid, Yasmin;
Sheridan, Eamonn;
Bonthron, David T.

Publication type:

Article

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E651, doi. 10.1002/humu.21010

By:

Lebrun, Anne-Hélène;
Storch, Stephan;
Rüschendorf, Franz;
Schmiedt, Mia-Lisa;
Kyttälä, Aija;
Mole, Sara E.;
Kitzmüller, Claudia;
Saar, Kathrin;
Mewasingh, Leena D.;
Boda, Volker;
Kohlschütter, Alfried;
Ullrich, Kurt;
Braulke, Thomas;
Schulz, Angela

Publication type:

Article

Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E640, doi. 10.1002/humu.20997

By:

Breunis, Willemijn B.;
van Mirre, Edwin;
Geissler, Judy;
Laddach, Nadja;
Wolbink, Gertjan;
van der Schoot, Ellen;
de Haas, Masja;
de Boer, Martin;
Roos, Dirk;
Kuijpers, Taco W.

Publication type:

Article

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930

By:

Tessa, Alessandra;
Fiermonte, Giuseppe;
Dionisi-Vici, Carlo;
Paradies, Eleonora;
Baumgartner, Matthias R.;
Chien, Yin-Hsiu;
Loguercio, Carmela;
de Baulny, Helene Ogier;
Nassogne, Marie-Cecile;
Schiff, Manuel;
Deodato, Federica;
Parenti, Giancarlo;
Lane Rutledge, S.;
Antonia Vilaseca, M.;
Melone, Mariarosa A.B.;
Scarano, Gioacchino;
Aldamiz-Echevarría, Luiz;
Besley, Guy;
Walter, John;
Martinez-Hernandez, Eugenia

Publication type:

Article

Detection of mosaic RB1 mutations in families with retinoblastoma.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 842, doi. 10.1002/humu.20940

By:

Rushlow, Diane;
Piovesan, Beata;
Zhang, Katherine;
Prigoda-Lee, Nadia L.;
Marchong, Mellone N.;
Clark, Robin D.;
Gallie, Brenda L.

Publication type:

Article

Cytokines as genetic modifiers in K5<sup>-/-</sup> mice and in human epidermolysis bullosa simplex.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 832, doi. 10.1002/humu.20981

By:

Roth, Wera;
Reuter, Ursula;
Wohlenberg, Claudia;
Bruckner-Tuderman, Leena;
Magin, Thomas M.

Publication type:

Article

Novel mutations in 3-phosphoglycerate dehydrogenase ( PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 749, doi. 10.1002/humu.20934

By:

Tabatabaie, L.;
de Koning, T.J.;
Geboers, A.J.J.M.;
van den Berg, I.E.T.;
Berger, R.;
Klomp, L.W.J.

Publication type:

Article

Functional properties of missense variants of human tryptophan hydroxylase 2.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 787, doi. 10.1002/humu.20956

By:

McKinney, Jeffrey A.;
Turel, Banu;
Winge, Ingeborg;
Knappskog, Per M.;
Haavik, Jan

Publication type:

Article

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 703, doi. 10.1002/humu.20938

By:

Thusberg, Janita;
Vihinen, Mauno

Publication type:

Article

Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know?

Published in:

Human Mutation, 2009, v. 30, n. 5, p. vii, doi. 10.1002/humu.21035

By:

Scott, Hamish S.

Publication type:

Article

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E618, doi. 10.1002/humu.20992

By:

Bornholdt, Dorothea;
Oeffner, Frank;
König, Arne;
Happle, Rudolf;
Alanay, Yasemin;
Ascherman, Jeffrey;
Benke, Paul J.;
del Carmen Boente, María;
van der Burgt, Ineke;
Chassaing, Nicolas;
Ellis, Ian;
Francisco, Christina Raissa I.;
Giovanna, Patricia Della;
Hamel, Ben;
Has, Cristina;
Heinelt, Kaatje;
Janecke, Andreas;
Kastrup, Wolfgang;
Loeys, Bart;
Lohrisch, Ingo

Publication type:

Article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 771, doi. 10.1002/humu.20944

By:

Arnold, Stacey;
Pelet, Anna;
Amiel, Jeanne;
Borrego, Salud;
Hofstra, Robert;
Tam, Paul;
Ceccherini, Isabella;
Lyonnet, Stanislas;
Sherman, Stephanie;
Chakravarti, Aravinda

Publication type:

Article

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 804, doi. 10.1002/humu.20961

By:

Rossetti, Raffaella;
Di Pasquale, Elisa;
Marozzi, Anna;
Bione, Silvia;
Toniolo, Daniela;
Grammatico, Paola;
Nelson, Lawrence M.;
Beck-Peccoz, Paolo;
Persani, Luca

Publication type:

Article

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995

By:

Zhang, Tianxiao;
Hua, Rui;
Xiao, Wei;
Burdon, Kathryn P.;
Bhattacharya, Shomi S.;
Craig, Jamie E.;
Shang, Dandan;
Zhao, Xiuli;
Mackey, David A.;
Moore, Anthony T.;
Luo, Yang;
Zhang, Jinsong;
Zhang, Xue

Publication type:

Article

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 734, doi. 10.1002/humu.20908

By:

Monnot, Sophie;
Serre, Valérie;
Chadefaux-Vekemans, Bernadette;
Aupetit, Joelle;
Romano, Stéphane;
De Lonlay, Pascale;
Rival, Jean-Marie;
Munnich, Arnold;
Steffann, Julie;
Bonnefont, Jean-Paul

Publication type:

Article

Down Syndrome-Hirschsprung Linked through RET Enhancer.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. vii, doi. 10.1002/humu.21030

By:

Antonarakis, Stylianos

Publication type:

Article

Alu- Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 776, doi. 10.1002/humu.20948

By:

Franke, Gerlind;
Bausch, Birke;
Hoffmann, Michael M.;
Cybulla, Markus;
Wilhelm, Christian;
Kohlhase, Jürgen;
Scherer, Gerd;
Neumann, Hartmut P.H.

Publication type:

Article

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023

By:

Chassaing, Nicolas;
Golzio, Christelle;
Odent, Sylvie;
Lequeux, Léopoldine;
Vigouroux, Adeline;
Martinovic-Bouriel, Jelena;
Tiziano, Francesco Danilo;
Masini, Lucia;
Piro, Francesca;
Maragliano, Giovanna;
Delezoide, Anne-Lise;
Attié-Bitach, Tania;
Manouvrier-Hanu, Sylvie;
Etchevers, Heather C.;
Calvas, Patrick

Publication type:

Article

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E612, doi. 10.1002/humu.21009

By:

Darlow, John M.;
Molloy, Niamh H.N.;
Green, Andrew J.;
Puri, Prem;
Barton, David E.

Publication type:

Article