Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 12

Results: 18

SOX17 Mutations Implicated in Urinary Tract Abnormalities.

Published in:

2010

By:

Passos-Bueno, Maria Rita

Publication type:

Other

Detection of clinically relevant exonic copy-number changes by array CGH.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360

By:

Boone, Philip M.;
Bacino, Carlos A.;
Shaw, Chad A.;
Eng, Patricia A.;
Hixson, Patricia M.;
Pursley, Amber N.;
Kang, Sung-Hae L.;
Yang, Yaping;
Wiszniewska, Joanna;
Nowakowska, Beata A.;
del Gaudio, Daniela;
Xia, Zhilian;
Simpson-Patel, Gayle;
Immken, LaDonna L.;
Gibson, James B.;
Tsai, Anne C.-H.;
Bowers, Jennifer A.;
Reimschisel, Tyler E.;
Schaaf, Christian P.;
Potocki, Lorraine

Publication type:

Article

Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. E1875, doi. 10.1002/humu.21366

By:

Lao, Oscar;
Vallone, Peter M.;
Coble, Michael D.;
Diegoli, Toni M.;
van Oven, Mannis;
van der Gaag, Kristiaan J.;
Pijpe, Jeroen;
de Knijff, Peter;
Kayser, Manfred

Publication type:

Article

A Foundation for a Community Consortium in an Inherited Disease and Complete Mutation Collection.

Published in:

2010

By:

Cotton, Richard G.H.

Publication type:

Other

Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR products.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1366, doi. 10.1002/humu.21358

By:

Kristensen, Lasse S.;
Daugaard, Iben L.;
Christensen, Mariann;
Hamilton-Dutoit, Stephen;
Hager, Henrik;
Hansen, Lise Lotte

Publication type:

Article

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1294, doi. 10.1002/humu.21359

By:

Esposito, Gabriella;
Imperato, Maria Rosaria;
Ieno, Luigi;
Sorvillo, Rosa;
Benigno, Vincenzo;
Parenti, Giancarlo;
Parini, Rossella;
Vitagliano, Luigi;
Zagari, Adriana;
Salvatore, Francesco

Publication type:

Article

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. E1915, doi. 10.1002/humu.21372

By:

Hilhorst-Hofstee, Yvonne;
Rijlaarsdam, Marry EB;
Scholte, Arthur JHA;
Swart-van den Berg, Marietta;
Versteegh, Michel IM;
van der Schoot-van Velzen, Iris;
Schäbitz, Hans-Joachim;
Bijlsma, Emilia K;
Baars, Marieke J;
Kerstjens-Frederikse, Wilhelmina S;
Giltay, Jacques C;
Hamel, Ben C;
Breuning, Martijn H;
Pals, Gerard

Publication type:

Article

The ribosomal basis of diamond-blackfan anemia: mutation and database update.

Published in:

2010

By:

Boria, Ilenia;
Garelli, Emanuela;
Gazda, Hanna T.;
Aspesi, Anna;
Quarello, Paola;
Pavesi, Elisa;
Ferrante, Daniela;
Meerpohl, Joerg J.;
Kartal, Mutlu;
Da Costa, Lydie;
Proust, Alexis;
Leblanc, Thierry;
Simansour, Maud;
Dahl, Niklas;
Fröjmark, Anne-Sophie;
Pospisilova, Dagmar;
Cmejla, Radek;
Beggs, Alan H.;
Sheen, Mee R.;
Landowski, Michael

Publication type:

Other

COLD PCR HRM: a highly sensitive detection method for IDH1 mutations.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1360, doi. 10.1002/humu.21365

By:

Boisselier, Blandine;
Marie, Yannick;
Labussière, Marianne;
Ciccarino, Pietro;
Desestret, Virginie;
Wang, XiaoWei;
Capelle, Laurent;
Delattre, Jean-Yves;
Sanson, Marc

Publication type:

Article

Impact of DNA physical properties on local sequence bias of human mutation.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1316, doi. 10.1002/humu.21371

By:

Nakken, Sigve;
Rødland, Einar A.;
Hovig, Eivind

Publication type:

Article

Generation and analysis of the thiazide-sensitive Na<sup>+</sup>-Cl<sup>−</sup> cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1304, doi. 10.1002/humu.21364

By:

Yang, Sung-Sen;
Lo, Yi-Fen;
Yu, I-Shing;
Lin, Shu-Wha;
Chang, Tai-Hsiang;
Hsu, Yu-Juei;
Chao, Tai-Kuang;
Sytwu, Huey-Kang;
Uchida, Shinichi;
Sasaki, Sei;
Lin, Shih-Hua

Publication type:

Article

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase ( GLYCTK).

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1280, doi. 10.1002/humu.21375

By:

Sass, Jörn Oliver;
Fischer, Kathleen;
Wang, Raymond;
Christensen, Ernst;
Scholl-Bürgi, Sabine;
Chang, Richard;
Kapelari, Klaus;
Walter, Melanie

Publication type:

Article

How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1374, doi. 10.1002/humu.21379

By:

Kohonen-Corish, Maija R.J.;
Al-Aama, Jumana Y.;
Auerbach, Arleen D.;
Axton, Myles;
Barash, Carol Isaacson;
Bernstein, Inge;
Béroud, Christophe;
Burn, John;
Cunningham, Fiona;
Cutting, Garry R.;
den Dunnen, Johan T.;
Greenblatt, Marc S.;
Kaput, Jim;
Katz, Michael;
Lindblom, Annika;
Macrae, Finlay;
Maglott, Donna;
Möslein, Gabriela;
Povey, Sue;
Ramesar, Raj

Publication type:

Article

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1343, doi. 10.1002/humu.21368

By:

Hannes, Femke;
Houdt, Jeroen Van;
Quarrell, Oliver W.;
Poot, Martin;
Hochstenbach, Ron;
Fryns, Jean-Pierre;
Vermeesch, Joris R.

Publication type:

Article

Triangulating in on Chimps, Neanderthals, and Man.

Published in:

2010

By:

Patrinos, George P.

Publication type:

Other

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. E1894, doi. 10.1002/humu.21367

By:

Tappino, Barbara;
Biancheri, Roberta;
Mort, Matthew;
Regis, Stefano;
Corsolini, Fabio;
Rossi, Andrea;
Stroppiano, Marina;
Lualdi, Susanna;
Fiumara, Agata;
Bembi, Bruno;
Di Rocco, Maja;
Cooper, David N.;
Filocamo, Mirella

Publication type:

Article

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1352, doi. 10.1002/humu.21378

By:

Gimelli, Stefania;
Caridi, Gianluca;
Beri, Silvana;
McCracken, Kyle;
Bocciardi, Renata;
Zordan, Paola;
Dagnino, Monica;
Fiorio, Patrizia;
Murer, Luisa;
Benetti, Elisa;
Zuffardi, Orsetta;
Giorda, Roberto;
Wells, James M.;
Gimelli, Giorgio;
Ghiggeri, Gian Marco

Publication type:

Article

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1286, doi. 10.1002/humu.21389

By:

Zhang, Guojie;
Pei, Zhang;
Krawczak, Michael;
Ball, Edward V.;
Mort, Matthew;
Kehrer-Sawatzki, Hildegard;
Cooper, David N.

Publication type:

Article