Volume 27; Issue 10

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Human Mutation
Volume 27; Issue 10

Human Mutation

Volume 27; Issue 10

1

Mutations in RYR1 in malignant hyperthermia and central core disease

Rachel Robinson, Danielle Carpenter, Marie-Anne Shaw, Jane Halsall, Philip Hopkins

Journal:

Year:

2006

Language:

english

File:

PDF, 531 KB

english, 2006

2

Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform

Ann-Marie Bergin, Barbro Balder, Shivendra Kishore, Kajsa Swärd, Mirjana Hahn-Zoric, Olle Löwhagen, Lars Å. Hanson, Leonid Padyukov

Journal:

Year:

2006

Language:

english

File:

PDF, 325 KB

english, 2006

3

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, B. Bembi, M. Donnarumma, M. Filocamo, G. Parenti, M. Rossi, L. Merlini, E. Buratti, P. De Filippi, A. Dardis, M. Stroppiano, G. Ciana, M.G. Pittis

Journal:

Year:

2006

Language:

english

File:

PDF, 255 KB

english, 2006

4

KCNQ4: a gene for age-related hearing impairment?

E. Van Eyken, L. Van Laer, E. Fransen, V. Topsakal, N. Lemkens, W. Laureys, N. Nelissen, A. Vandevelde, T. Wienker, P. Van De Heyning, G. Van Camp

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Year:

2006

Language:

english

File:

PDF, 322 KB

english, 2006

5

Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease

Yonghong Li, Steven Schrodi, Charles Rowland, Kristina Tacey, Joseph Catanese, Andrew Grupe

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Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

6

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Ian M. Carr, Kimberley J. Flintoff, Graham R. Taylor, Alexander F. Markham, David T. Bonthron

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Year:

2006

Language:

english

File:

PDF, 633 KB

english, 2006

7

The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon

Monique Buisson, Olga Anczuków, Almoutassem B. Zetoune, Mark D. Ware, Sylvie Mazoyer

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Year:

2006

Language:

english

File:

PDF, 243 KB

english, 2006

8

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements

Laura De Lellis, Maria Cristina Curia, Teresa Catalano, Simona De Toffol, Chiara Bassi, Cristina Mareni, Lucio Bertario, Pasquale Battista, Renato Mariani-Costantini, Paolo Radice, Alessandro Cama

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Year:

2006

Language:

english

File:

PDF, 372 KB

english, 2006

9

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine M

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Year:

2006

Language:

english

File:

PDF, 242 KB

english, 2006

10

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

Ilse Gijselinck, Veerle Bogaerts, Rosa Rademakers, Julie van der Zee, Christine Van Broeckhoven, Marc Cruts

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Year:

2006

Language:

english

File:

PDF, 168 KB

english, 2006

11

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu, Daniel Grinberg

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Year:

2006

Language:

english

File:

PDF, 174 KB

english, 2006

12

Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers

Laura D. Wood, Eric S. Calhoun, Natalie Silliman, Janine Ptak, Steve Szabo, Steve M. Powell, Gregory J. Riggins, Tian-Li Wang, Hai Yan, Adi Gazdar, Scott E. Kern, Len Pennacchio, Kenneth W. Kinzler, B

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Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

13

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome

Kathy King, Frances A. Flinter, Peter M. Green

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Year:

2006

Language:

english

File:

PDF, 84 KB

english, 2006

14

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions

Simona Cavalieri, Ada Funaro, Paola Porcedda, Valentina Turinetto, Nicola Migone, Richard A. Gatti, Alfredo Brusco

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Year:

2006

Language:

english

File:

PDF, 271 KB

english, 2006

15

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients

Kristina Becker, Carsten Hohoff, Bernhard Schmitt, Hans-Jürgen Christen, Bernd A. Neubauer, Torsten Sandrieser, Cord-Michael Becker

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Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

16

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Sara Benito-Sanz, Darya Gorbenko Del Blanco, Miriam Aza-Carmona, Luis F. Magano, Pablo Lapunzina, Jesús Argente, Ángel Campos-Barros, Karen E. Heath

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Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

17

Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell lines

Li Zheng, Fengwei Wang, Chiping Qian, Roxann M. Neumann, John C. Cheville, Donald J. Tindall, Wanguo Liu

Journal:

Year:

2006

Language:

english

File:

PDF, 256 KB

english, 2006

18

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

Cecile Dumanchin, Isabelle Tournier, Cosette Martin, Mira Didic, Serge Belliard, Bertrand Carlander, François Rouhart, Charles Duyckaerts, Jean-François Pellissier, Jean Baptiste Latouche, Didier Hann

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Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

19

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

Michael Linnebank, Alexander Semmler, Wim J. Kleijer, Marianne L.T. van der Sterre, Jutta Gärtner, Klaus Fliessbach, Piotr Sokolowski, Wolfgang Köhler, Uwe Schlegel, Thomas Klockgether, Ronald J.A. Wa

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Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

20

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis

Sophie Lejeune, François Guillemot, Jean-Pierre Triboulet, Stéphane Cattan, Christine Mouton, Nicole Porchet, Sylvie Manouvrier, Marie-Pierre Buisine

Journal:

Year:

2006

Language:

english

File:

PDF, 106 KB

english, 2006