Volume 31; Issue 12

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Human Mutation
Volume 31; Issue 12

Human Mutation

Volume 31; Issue 12

1

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 417 KB

english, 2010

2

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 569 KB

english, 2010

3

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

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata A. Nowakowska, Daniela del Gaudio, Zhil

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 895 KB

english, 2010

4

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 660 KB

english, 2010

5

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 346 KB

english, 2010

6

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 687 KB

english, 2010

7

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 790 KB

english, 2010

8

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 380 KB

english, 2010

9

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

Sigve Nakken, Einar A. Rødland, Eivind Hovig

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 225 KB

english, 2010

10

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

Yvonne Hilhorst-Hofstee, Marry EB Rijlaarsdam, Arthur JHA Scholte, Marietta Swart-van den Berg, Michel IM Versteegh, Iris van der Schoot-van Velzen, Hans-Joachim Schäbitz, Emilia K Bijlsma, Marieke J

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 577 KB

english, 2010

11

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 310 KB

english, 2010

12

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 340 KB

english, 2010

13

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

Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dun

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 166 KB

english, 2010

14

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

Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J. Meerpohl, Mutlu Kartal, Lydie Da Costa, Alexis Proust, Thierry Leblanc, Maud Siman

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 226 KB

english, 2010

15

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

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

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 231 KB

english, 2010

16

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

Richard G.H. Cotton

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

17

Triangulating in on Chimps, Neanderthals, and Man

George P. Patrinos

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

18

SOX17 Mutations Implicated in Urinary Tract Abnormalities

Maria Rita Passos-Bueno

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010