Volume 30; Issue 12

Main
Human Mutation
Volume 30; Issue 12

Human Mutation

Volume 30; Issue 12

1

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Ian M. Carr, Katarzyna Szymanska, Eamonn Sheridan, Alexander F. Markham, David T. Bonthron, Colin A. Johnson

Journal:

Year:

2009

Language:

english

File:

PDF, 270 KB

english, 2009

2

A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency

Anne Parle-McDermott, Faith Pangilinan, Kirsty K. O'Brien, James L. Mills, Alan M. Magee, James Troendle, Marie Sutton, John M. Scott, Peadar N. Kirke, Anne M. Molloy, Lawrence C. Brody

Journal:

Year:

2009

Language:

english

File:

PDF, 291 KB

english, 2009

3

Structural aspects of therapeutic enzymes to treat metabolic disorders

Tse Siang Kang, Raymond C. Stevens

Journal:

Year:

2009

Language:

english

File:

PDF, 717 KB

english, 2009

4

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael T. Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy M. King, Alan Pestronk, Jul

Journal:

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

5

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

Maria Valencia, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni, Suhair S. Eid, Helen Cox, Sabrina Buoni, Joseph Hayek, Maria L. Martinez-Frias, Per

Journal:

Year:

2009

Language:

english

File:

PDF, 375 KB

english, 2009

6

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

B. Pérez, A. Rincón, A. Jorge-Finnigan, E. Richard, B. Merinero, M. Ugarte, L.R. Desviat

Journal:

Year:

2009

Language:

english

File:

PDF, 287 KB

english, 2009

7

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O'Brien, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

8

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

John J. Flanagan, Barbara Rossi, Katherine Tang, Xiaoyang Wu, Kirsten Mascioli, Francesca Donaudy, Maria Rosaria Tuzzi, Federica Fontana, Maria Vittoria Cubellis, Caterina Porto, Elfrida Benjamin, Dav

Journal:

Year:

2009

Language:

english

File:

PDF, 490 KB

english, 2009

9

Deep sequencing to reveal new variants in pooled DNA samples

Astrid A. Out, Ivonne J.H.M. van Minderhout, Jelle J. Goeman, Yavuz Ariyurek, Stephan Ossowski, Korbinian Schneeberger, Detlef Weigel, Michiel van Galen, Peter E.M. Taschner, Carli M.J. Tops, Martijn

Journal:

Year:

2009

Language:

english

File:

PDF, 366 KB

english, 2009

10

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Carla G. Asteggiano, Brett Casey, Bert Bakker, Luca Sangiorgi, Wim Wuyts

Journal:

Year:

2009

Language:

english

File:

PDF, 194 KB

english, 2009

11

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

Micha A. Haeuptle, Thierry Hennet

Journal:

Year:

2009

Language:

english

File:

PDF, 621 KB

english, 2009

12

Novel missense mutations in the FOXC2 gene alter transcriptional activity

M.A.M. van Steensel, R.J. Damstra, M. Heitink, R.S. Bladergroen, J. Veraart, Peter M. Steijlen, M. van Geel

Journal:

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

13

ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database

Jin Ok Yang, Woo-Yeon Kim, Jong Bhak

Journal:

Year:

2009

Language:

english

File:

PDF, 780 KB

english, 2009

14

Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways

Karin Leunen, Olivier Gevaert, Anneleen Daemen, Vanessa Vanspauwen, Geneviève Michils, Bart De Moor, Philippe Moerman, Ignace Vergote, Eric Legius

Journal:

Year:

2009

Language:

english

File:

PDF, 443 KB

english, 2009

15

Identifying sequence variants in the human mitochondrial genome using high resolution melt (HRM) profiling

Steven F. Dobrowolski, Alexandra T.M. Hendrickx, Bianca J.C. van den Bosch, Hubert J.M. Smeets, Jesse Gray, Trent Miller, Mitch Sears

Journal:

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

16

Linkage exclusion mapping: rare diseases get SAMPLE'd

Shawn K. Westaway

Journal:

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

17

Toward understanding the molecular basis of ovarian cancer

Logan C. Walker

Journal:

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

18

BAK1 gene variation and abdominal aortic aneurysms

Bruce Gottlieb, Lorraine E. Chalifour, Benjamin Mitmaker, Nathan Sheiner, Daniel Obrand, Cherrie Abraham, Melissa Meilleur, Tomoko Sugahara, Ghassan Bkaily, Morris Schweitzer

Journal:

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009