Volume 28; Issue 4

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Human Mutation
Volume 28; Issue 4

Human Mutation

Volume 28; Issue 4

1

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia

Marja Majava, Paul N. Bishop, Pasi Hägg, Paul G. Scott, Aine Rice, Chris Inglehearn, Christopher J. Hammond, Tim D. Spector, Leena Ala-Kokko, Minna Männikkö

Journal:

Year:

2007

Language:

english

File:

PDF, 972 KB

english, 2007

2

Identification and computationally-based structural interpretation of naturally occurring variants of human protein C

Ermanna Rovida, Giuliana Merati, Pasqualina D'Ursi, Sara Zanardelli, Francesca Marino, Gessica Fontana, Giancarlo Castaman, Elena M. Faioni

Journal:

Year:

2007

Language:

english

File:

PDF, 536 KB

english, 2007

3

Response to: getting rid of the PMS2 pseudogenes: mission impossible?

Mark Clendenning, Albert de la Chapelle

Journal:

Year:

2007

Language:

english

File:

PDF, 81 KB

english, 2007

4

Getting rid of the PMS2 pseudogenes: mission impossible?

Renée C. Niessen, Jan H. Kleibeuker, Paul O.J. Jager, Rolf H. Sijmons, Robert M.W. Hofstra

Journal:

Year:

2007

Language:

english

File:

PDF, 91 KB

english, 2007

5

Truncation of NHEJ1 in a patient with polymicrogyria

Vincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, Chantal Missirian, Ana Borges, Nicole Philip, Carla Fernandez, Carlos Cardoso, Dominique Figarella-Branger, Anne Moncla, Susan Lindsay, William B. Do

Journal:

Year:

2007

Language:

english

File:

PDF, 463 KB

english, 2007

6

ZFHX1B mutations in patients with Mowat-Wilson syndrome

Florence Dastot-Le Moal, Meredith Wilson, David Mowat, Nathalie Collot, Florence Niel, Michel Goossens

Journal:

Year:

2007

Language:

english

File:

PDF, 199 KB

english, 2007

7

Italian Rett database and biobank

Katia Sampieri, Ilaria Meloni, Elisa Scala, Francesca Ariani, Rossella Caselli, Chiara Pescucci, Ilaria Longo, Rosangela Artuso, Mirella Bruttini, Maria Antonietta Mencarelli, Caterina Speciale, Vince

Journal:

Year:

2007

Language:

english

File:

PDF, 387 KB

english, 2007

8

Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits

Mohammad R. Abdollahi, Rohan M. Lewis, Tom R. Gaunt, Debbie V.E. Cumming, Santiago Rodriguez, Matthew Rose-Zerilli, Andrew R. Collins, Holly E. Syddall, William M. Howell, Cyrus Cooper, Keith M. Godfr

Journal:

Year:

2007

Language:

english

File:

PDF, 226 KB

english, 2007

9

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns-Lê, Natzi Sakalihasan, Charles M. Lapière, Paul Coucke, Anne De Paepe

Journal:

Year:

2007

Language:

english

File:

PDF, 423 KB

english, 2007

10

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

Harald Bär, Bertrand Goudeau, Sarah Wälde, Monique Casteras-Simon, Norbert Mücke, Alexey Shatunov, Y. Paul Goldberg, Charles Clarke, Janice L. Holton, Bruno Eymard, Hugo A. Katus, Michel Fardeau, Lev

Journal:

Year:

2007

Language:

english

File:

PDF, 627 KB

english, 2007

11

RPGR mutation analysis and disease: an update

Xinhua Shu, Graeme C. Black, Jacqueline M. Rice, Niki Hart-Holden, Alison Jones, Anna O'Grady, Simon Ramsden, Alan F. Wright

Journal:

Year:

2007

Language:

english

File:

PDF, 220 KB

english, 2007

12

Case–control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

Sheila A. Fisher, Andrea Rivera, Lars G. Fritsche, Claudia N. Keilhauer, Peter Lichtner, Thomas Meitinger, Günther Rudolph, Bernhard H.F. Weber

Journal:

Year:

2007

Language:

english

File:

PDF, 503 KB

english, 2007

13

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

Julie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, Sebastiaan Engelborghs, Ilse Gijselinck, Agnès Camuzat, Nathalie Brouwers, Rik Vandenberghe, Kristel Sleegers, Didier Hannequin, Bart Dermau

Journal:

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

14

Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype

Wayne A. Cabral, Elena Makareeva, Anne D. Letocha, Nina Scribanu, Andrzej Fertala, Andrzej Steplewski, Douglas R. Keene, Anton V. Persikov, Sergey Leikin, Joan C. Marini

Journal:

Year:

2007

Language:

english

File:

PDF, 479 KB

english, 2007

15

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich, Josseline Kaplan, Jean-Mic

Journal:

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007