Volume 29; Issue 7

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Human Mutation
Volume 29; Issue 7

Human Mutation

Volume 29; Issue 7

1

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich, Laurence Colleaux

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 344 KB

english, 2008

2

PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype–phenotype associations

Min Ki ten Kate, Mathieu Platteel, Rene Mulder, Peter Terpstra, Gerry A.F. Nicolaes, Pieter H. Reitsma, Gerrit van der Steege, Jan van der Meer

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 356 KB

english, 2008

3

Mutations in human monoamine-related neurotransmitter pathway genes

Jan Haavik, Nenad Blau, Beat Thöny

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 294 KB

english, 2008

4

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation

C. Crétolle, A. Pelet, D. Sanlaville, M. Zérah, J. Amiel, F. Jaubert, Y. Révillon, L. Baala, A. Munnich, C. Nihoul-Fékété, S. Lyonnet

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 311 KB

english, 2008

5

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

Stefanie Engert, Barbara Wappenschmidt, Beate Betz, Karin Kast, Michael Kutsche, Heide Hellebrand, Timm O. Goecke, Marion Kiechle, Dieter Niederacher, Rita K. Schmutzler, Alfons Meindl

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 479 KB

english, 2008

6

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Nicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Baselga, Francesco Brancati, Robin C

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 260 KB

english, 2008

7

RPS19 mutations in patients with Diamond-Blackfan anemia

Maria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, Paola Quarello, Emanuela Garelli, Adriana Carando, Federica Avondo, Elisa Pavesi, Sébastien Fribourg, Pierre-Emmanuel Gleizes, Fabrizio Lore

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 283 KB

english, 2008

8

Evaluation of in silico splice tools for decision-making in molecular diagnosis

Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d'Enghien, Anthony Laugé, Laurent Castera, Marion Gauthie

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 177 KB

english, 2008

9

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

Janice Y. Chou, Brian C. Mansfield

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 245 KB

english, 2008

10

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence

Samia A. Temtamy, Mona S. Aglan, Maria Valencia, Guido Cocchi, Maria Pacheco, Adel M. Ashour, Khalda S. Amr, Sanaa M.H. Helmy, Mona A. El-Gammal, Michael Wright, Pablo Lapunzina, Judith A. Goodship, V

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 385 KB

english, 2008