Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 11

Results: 19

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1251, doi. 10.1002/humu.21350

By:

Vijayasarathy, Camasamudram;
Sui, Ruifang;
Zeng, Yong;
Yang, Guoxing;
Xu, Fei;
Caruso, Rafael C.;
Lewis, Richard A.;
Ziccardi, Lucia;
Sieving, Paul A.

Publication type:

Article

Leiden open variation database of the MUTYH gene.

Published in:

2010

By:

Out, Astrid A.;
Tops, Carli M.J.;
Nielsen, Maartje;
Weiss, Marjan M.;
van Minderhout, Ivonne J.H.M.;
Fokkema, Ivo F.A.C.;
Buisine, Marie-Pierre;
Claes, Kathleen;
Colas, Chrystelle;
Fodde, Riccardo;
Fostira, Florentia;
Franken, Patrick F.;
Gaustadnes, Mette;
Heinimann, Karl;
Hodgson, Shirley V.;
Hogervorst, Frans B.L.;
Holinski-Feder, Elke;
Lagerstedt-Robinson, Kristina;
Olschwang, Sylviane;
Ans M.W., van den Ouweland

Publication type:

Other

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1825, doi. 10.1002/humu.21354

By:

Molatore, Sara;
Marinoni, Ilaria;
Lee, Misu;
Pulz, Elke;
Ambrosio, Maria Rosaria;
Uberti, Ettore C. degli;
Zatelli, Maria Chiara;
Pellegata, Natalia S.

Publication type:

Article

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1836, doi. 10.1002/humu.21357

By:

Thiele, Holger;
du Moulin, Marcel;
Barczyk, Katarzyna;
George, Christel;
Schwindt, Wolfram;
Nürnberg, Gudrun;
Frosch, Michael;
Kurlemann, Gerhard;
Roth, Johannes;
Nürnberg, Peter;
Rutsch, Frank

Publication type:

Article

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1179, doi. 10.1002/humu.21339

By:

Povey, Sue;
Al Aqeel, Aida I.;
Cambon-Thomsen, Anne;
Dalgleish, Raymond;
den Dunnen, Johan T.;
Firth, Helen V.;
Greenblatt, Marc S.;
Barash, Carol Isaacson;
Parker, Michael;
Patrinos, George P.;
Savige, Judith;
Sobrido, Maria-Jesus;
Winship, Ingrid;
Cotton, Richard G.H.

Publication type:

Article

LQTS gene LOVD database.

Published in:

2010

By:

Zhang, Tao;
Moss, Arthur;
Cong, Peikuan;
Pan, Min;
Chang, Bingxi;
Zheng, Liangrong;
Fang, Quan;
Zareba, Wojciech;
Robinson, Jennifer;
Lin, Changsong;
Li, Zhongxiang;
Wei, Junfang;
Zeng, Qiang;
Qi, Ming

Publication type:

Other

Expanded Carrier Screening in the Ashkenazi Jewish Population.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. v, doi. 10.1002/humu.21381

By:

Mitchell, John

Publication type:

Article

Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1216, doi. 10.1002/humu.21352

By:

Oliveira, Jorge;
Dias, Cristina;
Redeker, Egbert;
Costa, Eurico;
Silva, João;
Reis Lima, Margarida;
den Dunnen, Johan T.;
Santos, Rosário

Publication type:

Article

Adenine DNA glycosylase activity of 14 Human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1861, doi. 10.1002/humu.21363

By:

Goto, Masanori;
Shinmura, Kazuya;
Nakabeppu, Yusaku;
Tao, Hong;
Yamada, Hidetaka;
Tsuneyoshi, Toshihiro;
Sugimura, Haruhiko

Publication type:

Article

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1772, doi. 10.1002/humu.21334

By:

Barragán, Isabel;
Borrego, Salud;
Pieras, Juan Ignacio;
Pozo, María González-del;
Santoyo, Javier;
Ayuso, Carmen;
Baiget, Montserrat;
Millan, José M.;
Mena, Marcela;
El-Aziz, Mai M. Abd;
Audo, Isabelle;
Zeitz, Christina;
Littink, Karin W.;
Dopazo, Joaquín;
Bhattacharya, Shomi S.;
Antiñolo, Guillermo

Publication type:

Article

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1185, doi. 10.1002/humu.21345

By:

Reamon-Buettner, Stella Marie;
Borlak, Juergen

Publication type:

Article

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1261, doi. 10.1002/humu.21356

By:

Riazuddin, S. Amer;
Vithana, Eranga N.;
Seet, Li-Fong;
Liu, Yangjian;
Al-Saif, Amr;
Koh, Li Wei;
Heng, Yee Meng;
Aung, Tin;
Meadows, Danielle N.;
Eghrari, Allen O.;
Gottsch, John D.;
Katsanis, Nicholas

Publication type:

Article

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1240, doi. 10.1002/humu.21327

By:

Scott, Stuart A.;
Edelmann, Lisa;
Liu, Liu;
Luo, Minjie;
Desnick, Robert J.;
Kornreich, Ruth

Publication type:

Article

MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1223, doi. 10.1002/humu.21349

By:

Barenboim, Maxim;
Zoltick, Brad J.;
Guo, Yongjian;
Weinberger, Daniel R.

Publication type:

Article

One of the Reasons Why Humans, and not Sponges or Worms, get Psychiatric Disorders?

Published in:

Human Mutation, 2010, v. 31, n. 11, p. v, doi. 10.1002/humu.21380

By:

Scott, Hamish S.

Publication type:

Article

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1851, doi. 10.1002/humu.21362

By:

Horn, Denise;
Kapeller, Johannes;
Rivera-Brugués, Núria;
Moog, Ute;
Lorenz-Depiereux, Bettina;
Eck, Sebastian;
Hempel, Maja;
Wagenstaller, Janine;
Gawthrope, Alex;
Monaco, Anthony P.;
Bonin, Michael;
Riess, Olaf;
Wohlleber, Eva;
Illig, Thomas;
Bezzina, Connie R.;
Franke, Andre;
Spranger, Stephanie;
Villavicencio-Lorini, Pablo;
Seifert, Wenke;
Rosenfeld, Jochen

Publication type:

Article

miRNA genes and the brain: implications for psychiatric disorders.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1195, doi. 10.1002/humu.21344

By:

Forero, Diego A.;
van der Ven, Karlijn;
Callaerts, Patrick;
Del-Favero, Jurgen

Publication type:

Article

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. 1233, doi. 10.1002/humu.21355

By:

Malfait, Fransiska;
Syx, Delfien;
Vlummens, Philip;
Symoens, Sofie;
Nampoothiri, Sheela;
Hermanns-Lê, Trinh;
Van Laer, Lut;
De Paepe, Anne

Publication type:

Article

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1811, doi. 10.1002/humu.21348

By:

Marduel, Marie;
Carrié, Alain;
Sassolas, Agnes;
Devillers, Martine;
Carreau, Valérie;
Di Filippo, Mathilde;
Erlich, Danièle;
Abifadel, Marianne;
Marques-Pinheiro, Alice;
Munnich, Arnold;
Junien, Claudine;
Boileau, Catherine;
Varret, Mathilde;
Rabès, Jean-Pierre

Publication type:

Article