Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 7

Results: 10

RPS19 mutations in patients with Diamond-Blackfan anemia.

Published in:

2008

By:

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

Publication type:

Other

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

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 975, doi. 10.1002/humu.20765

By:

Houdayer, Claude;
Dehainault, Catherine;
Mattler, Christophe;
Michaux, Dorothée;
Caux-Moncoutier, Virginie;
Pagès-Berhouet, Sabine;
d'Enghien, Catherine Dubois;
Laugé, Anthony;
Castera, Laurent;
Gauthier-Villars, Marion;
Stoppa-Lyonnet, Dominique

Publication type:

Article

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

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 931, doi. 10.1002/humu.20778

By:

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

Publication type:

Article

Mutations in human monoamine-related neurotransmitter pathway genes.

Published in:

2008

By:

Haavik, Jan;
Blau, Nenad;
Thöny, Beat

Publication type:

Other

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

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 966, doi. 10.1002/humu.20531

By:

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

Publication type:

Article

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

Published in:

2008

By:

Chou, Janice Y.;
Mansfield, Brian C.

Publication type:

Other

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.

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 948, doi. 10.1002/humu.20723

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 959, doi. 10.1002/humu.20746

By:

Revencu, Nicole;
Boon, Laurence M.;
Mulliken, John B.;
Enjolras, Odile;
Cordisco, Maria Rosa;
Burrows, Patricia E.;
Clapuyt, Philippe;
Hammer, Frank;
Dubois, Josée;
Baselga, Eulalia;
Brancati, Francesco;
Carder, Robin;
Quintal, José Miguel Ceballos;
Dallapiccola, Bruno;
Fischer, Gayle;
Frieden, Ilona J.;
Garzon, Maria;
Harper, John;
Johnson-Patel, Jennifer;
Labrèze, Christine

Publication type:

Article

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

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 939, doi. 10.1002/humu.20687

By:

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

Publication type:

Article

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

Published in:

2008

By:

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

Publication type:

Other