Volume 28; Issue 12

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Human Mutation
Volume 28; Issue 12

Human Mutation

Volume 28; Issue 12

1

Chasing genes for mood disorders and schizophrenia in genetically isolated populations

Tine Venken, Jurgen Del-Favero

Journal:

Year:

2007

Language:

english

File:

PDF, 252 KB

english, 2007

2

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Jason C. Ting, Elisha D.O. Roberson, Nathaniel D. Miller, Alana Lysholm-Bernacchi, Dietrich A. Stephan, George T. Capone, Ingo Ruczinski, George H. Thomas, Jonathan Pevsner

Journal:

Year:

2007

Language:

english

File:

PDF, 560 KB

english, 2007

3

The UK National Cancer Research Institute (NCRI) Informatics Initiative: promoting partnership in cancer research

Fiona Reddington, Abi Ajose-Adeogun, Robin Clark

Journal:

Year:

2007

Language:

english

File:

PDF, 232 KB

english, 2007

4

Association of SSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.)

Zhenghua Zhang, Zhenmin Niu, Yi Wang, Wei Huang

Journal:

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

5

Sequence variation database for the Wilson disease copper transporter, ATP7B

Susan M. Kenney, Diane W. Cox

Journal:

Year:

2007

Language:

english

File:

PDF, 182 KB

english, 2007

6

Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

Jorge Frank, Maurice A.M. van Steensel, Michel van Geel

Journal:

Year:

2007

Language:

english

File:

PDF, 119 KB

english, 2007

7

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

Campbell R. Sheen, Ursula R. Jewell, Christine M. Morris, Stephen O. Brennan, Claude Férec, Peter M. George, Mark P. Smith, Jian-Min Chen

Journal:

Year:

2007

Language:

english

File:

PDF, 425 KB

english, 2007

8

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

Fatih Bayrakli, Kaya Bilguvar, Christopher E. Mason, Michael L. DiLuna, Yasar Bayri, Levent Gungor, Murat Terzi, Shrikant M. Mane, Richard P. Lifton, Matthew W. State, Murat Gunel

Journal:

Year:

2007

Language:

english

File:

PDF, 264 KB

english, 2007

9

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer

Susan J. Ramus, Patricia A. Harrington, Carole Pye, Richard A. DiCioccio, Mark J. Cox, Kim Garlinghouse-Jones, Ingrid Oakley-Girvan, Ian J. Jacobs, Richard M. Hardy, Alice S. Whittemore, Bruce A.J. Po

Journal:

Year:

2007

Language:

english

File:

PDF, 403 KB

english, 2007

10

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes

S. Ennis, A. Murray, G. Brightwell, N.E. Morton, P.A. Jacobs

Journal:

Year:

2007

Language:

english

File:

PDF, 355 KB

english, 2007

11

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak, Dagmar Pospisilova

Journal:

Year:

2007

Language:

english

File:

PDF, 357 KB

english, 2007

12

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai-Mallet, Jean-Luc Jouve, Brigitte Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

Journal:

Year:

2007

Language:

english

File:

PDF, 297 KB

english, 2007

13

Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes

Angelo Gámez-Pozo, Itziar Palacios, Milica Kontic, Ibis Menéndez, Isabel Camino, Purificación García-Miguel, José Abelairas, Ángel Pestaña, Javier Alonso

Journal:

Year:

2007

Language:

english

File:

PDF, 323 KB

english, 2007

14

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

Sylvie Gerber, Sylvain Hanein, Isabelle Perrault, Nathalie Delphin, Nisrine Aboussair, Corinne Leowski, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Journal:

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

15

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

Claude Bendavid, Christèle Dubourg, Laurent Pasquier, Isabelle Gicquel, Simon Le Gallou, Stéphanie Mottier, Marie-Renée Durou, Catherine Henry, Sylvie Odent, Véronique David

Journal:

Year:

2007

Language:

english

File:

PDF, 343 KB

english, 2007