Current Issue

Volume 31 Issue 2 (February 2010)

In This Issue

Point of care mutation detection (p v)
Mats Nilsson
Published Online: Jan 26 2010 12:18PM
DOI: 10.1002/humu.21198

Abstract | Full Text:   PDF (Size: 63K)
Save Article

Mutation Updates

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome (p 113-126)
V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen, M.C. Vincent, L. Pasquier, S. Odent, V. Cormier-Daire, B. Gener, E.S. Tobias, J.L. Tolmie, D. Martin-Coignard, V. Drouin-Garraud, D. Heron, H. Journel, E. Raffo, J. Vigneron, S. Lyonnet, V. Murday, D. Gubser-Mercati, B. Funalot, L. Brueton, J. Sanchez del Pozo, E. Muñoz, A.R. Gennery, M. Salih, M. Noruzinia, K. Prescott, L. Ramos, Z. Stark, K. Fieggen, B. Chabrol, P. Sarda, P. Edery, A. Bloch-Zupan, H. Fawcett, D. Pham, J.M. Egly, A.R. Lehmann, A. Sarasin, H. Dollfus
Published Online: Nov 5 2009 5:24PM
DOI: 10.1002/humu.21154

Abstract  |  References | Full Text:   PDF (Size: 317K)  | Supporting information
Save Article

Informatics

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases (p 127-135)
Anne Friedrich, Nicolas Garnier, Nicolas Gagnière, Hoan Nguyen, Laurent-Philippe Albou, Valérie Biancalana, Emmanuel Bettler, Gilbert Deléage, Odile Lecompte, Jean Muller, Dino Moras, Jean-Louis Mandel, Thierry Toursel, Luc Moulinier, Olivier Poch
Published Online: Nov 17 2009 5:22PM
DOI: 10.1002/humu.21155

Abstract  |  References | Full Text:   PDF (Size: 495K)  | Supporting information
Save Article

Rapid Communications

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping (p 136-142)
Nicolas Wein, Aurélie Avril, Marc Bartoli, Cyriaque Beley, Soraya Chaouch, Pascal Laforêt, Anthony Behin, Gillian Butler-Browne, Vincent Mouly, Martin Krahn, Luis Garcia, Nicolas Lévy
Published Online: Dec 1 2009 2:13PM
DOI: 10.1002/humu.21160

Abstract  |  References | Full Text:   PDF (Size: 367K)
Save Article

Research Articles

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect (p 143-150)
Sonia Garritano, Federica Gemignani, Edenir Inez Palmero, Magali Olivier, Ghyslaine Martel-Planche, Florence Le Calvez-Kelm, Laurence Brugiéres, Fernando Regla Vargas, Ricardo Renzo Brentani, Patricia Ashton-Prolla, Stefano Landi, Sean V. Tavtigian, Pierre Hainaut, Maria Isabel W. Achatz
Published Online: Oct 29 2009 4:47PM
DOI: 10.1002/humu.21151

Abstract  |  References | Full Text:   PDF (Size: 346K)  | Supporting information
Save Article

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD) (p 151-158)
Marcus Gentsch, Aneta Kaczmarczyk, Karin van Leeuwen, Martin de Boer, Magdalena Kaus-Drobek, Marie-Claire Dagher, Petra Kaiser, Peter D. Arkwright, Manfred Gahr, Angela Rösen-Wolff, Matthias Bochtler, Elizabeth Secord, Pamela Britto-Williams, Gulam Mustafa Saifi, Anne Maddalena, Ghassan Dbaibo, Jacinta Bustamante, Jean-Laurent Casanova, Dirk Roos, Joachim Roesler
Published Online: Dec 1 2009 2:10PM
DOI: 10.1002/humu.21156

Abstract  |  References | Full Text:   PDF (Size: 377K)  | Supporting information
Save Article

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay (p 159-166)
Sara Molatore, Maria Teresa Russo, Vito G. D'Agostino, Flavia Barone, Yoshihiro Matsumoto, Alessandra M. Albertini, Anna Minoprio, Paolo Degan, Filomena Mazzei, Margherita Bignami, Guglielmina Nadia Ranzani
Published Online: Dec 1 2009 2:12PM
DOI: 10.1002/humu.21158

Abstract  |  References | Full Text:   PDF (Size: 291K)
Save Article

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients (p 167-175)
Sikandar G. Khan, Koji Yamanegi, Zhi-Ming Zheng, Jennifer Boyle, Kyoko Imoto, Kyu-Seon Oh, Carl C. Baker, Engin Gozukara, Ahmet Metin, Kenneth H. Kraemer
Published Online: Dec 1 2009 2:14PM
DOI: 10.1002/humu.21166

Abstract  |  References | Full Text:   PDF (Size: 323K)  | Supporting information
Save Article

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion (p 176-183)
Michael W. Lawlor, Elizabeth T. DeChene, Emily Roumm, Amelia S. Geggel, Behzad Moghadaszadeh, Alan H. Beggs
Published Online: Dec 1 2009 2:11PM
DOI: 10.1002/humu.21157

Abstract  |  References | Full Text:   PDF (Size: 369K)
Save Article

Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel (p 184-190)
Ney P.C. Santos, Elzemar M. Ribeiro-Rodrigues, Ândrea K.C. Ribeiro-dos-Santos, Rui Pereira, Leonor Gusmão, António Amorim, Joáo F. Guerreiro, Marco A. Zago, Cecília Matte, Mara H. Hutz, Sidney E.B. Santos
Published Online: Dec 1 2009 2:13PM
DOI: 10.1002/humu.21159

Abstract  |  References | Full Text:   PDF (Size: 168K)
Save Article

KCNC3: phenotype, mutations, channel biophysics - a study of 260 familial ataxia patients (p 191-196)
Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr, Diane M. Papazian, Stefan M. Pulst
Published Online: Dec 1 2009 2:13PM
DOI: 10.1002/humu.21165

Abstract  |  References | Full Text:   PDF (Size: 181K)
Save Article

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events (p 197-207)
Ulrich Pannicke, Manfred Hönig, Ilka Schulze, Jan Rohr, Gitta A. Heinz, Sylvia Braun, Ingrid Janz, Eva-Maria Rump, Markus G. Seidel, Susanne Matthes-Martin, Jan Soerensen, Johann Greil, Daniel K. Stachel, Bernd H. Belohradsky, Michael H. Albert, Ansgar Schulz, Stephan Ehl, Wilhelm Friedrich, Klaus Schwarz
Published Online: Dec 1 2009 2:14PM
DOI: 10.1002/humu.21168

Abstract  |  References | Full Text:   PDF (Size: 294K)  | Supporting information
Save Article

Methods

Exciton Primer-mediated SNP detection in SmartAmp2 reactions (p 208-217)
Alexander Lezhava, Takefumi Ishidao, Yuri Ishizu, Kana Naito, Takeshi Hanami, Atsuko Katayama, Yasushi Kogo, Takahiro Soma, Shuji Ikeda, Kayoko Murakami, Chihiro Nogawa, Masayoshi Itoh, Yasumasa Mitani, Matthias Harbers, Akimitsu Okamoto, Yoshihide Hayashizaki
Published Online: Jan 5 2010 1:07PM
DOI: 10.1002/humu.21177

Abstract  |  References | Full Text:   PDF (Size: 473K)
Save Article

Mutations in Brief

A thorough assessment of benign genetic variability in GRN and MAPT (p E1126-E1140)
Rita J. Guerreiro, Nicole Washecka, John Hardy, Andrew Singleton
Published Online: Dec 17 2009 5:53PM
DOI: 10.1002/humu.21152

Abstract | Full Text:   PDF (Size: 490K)
Save Article

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance (p E1141-E1145)
Amanda B. Spurdle, Sunil R. Lakhani, Leonard M. Da Silva, Rosemary L. Balleine, kConFab Investigators, David E. Goldgar
Published Online: Dec 17 2009 5:53PM
DOI: 10.1002/humu.21181

Abstract | Full Text:   PDF (Size: 100K)
Save Article

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in Brain-Lung-Thyroid Syndrome (p E1146-E1162)
Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Francis Jaubert, Isabelle Broutin, François Counil, Delphine Feldmann, Annick Clement, Michel Polak, Ralph Epaud
Published Online: Dec 17 2009 5:53PM
DOI: 10.1002/humu.21183

Abstract | Full Text:   PDF (Size: 619K)
Save Article

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6 (p E1163-E1174)
Anna-Katherina Kurze, Giovanna Galliciotti, Claudia Heine, Sara E. Mole, Arne Quitsch, Thomas Braulke
Published Online: Dec 17 2009 5:54PM
DOI: 10.1002/humu.21184

Abstract | Full Text:   PDF (Size: 370K)
Save Article