OpenURL Connection Search

Select item for more details and to access through your institution.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Published in:
Clinical Genetics, 2017, v. 91, n. 4, p. 576, doi. 10.1111/cge.12898
By:
- El Chehadeh, S.;
- Touraine, R.;
- Prieur, F.;
- Reardon, W.;
- Bienvenu, T.;
- Chantot ‐ Bastaraud, S.;
- Doco ‐ Fenzy, M.;
- Landais, E.;
- Philippe, C.;
- Marle, N.;
- Callier, P.;
- Mosca ‐ Boidron, A. ‐ L.;
- Mugneret, F.;
- Le Meur, N.;
- Goldenberg, A.;
- Guerrot, A. ‐ M.;
- Chambon, P.;
- Satre, V.;
- Coutton, C.;
- Jouk, P. ‐ S.
Publication type:
Article
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
By:
- Nizon, M.;
- Henry, M.;
- Michot, C.;
- Baumann, C.;
- Bazin, A.;
- Bessières, B.;
- Blesson, S.;
- Cordier‐Alex, M.‐P.;
- David, A.;
- Delahaye‐Duriez, A.;
- Delezoïde, A.‐L.;
- Dieux‐Coeslier, A.;
- Doco‐Fenzy, M.;
- Faivre, L.;
- Goldenberg, A.;
- Layet, V.;
- Loget, P.;
- Marlin, S.;
- Martinovic, J.;
- Odent, S.
Publication type:
Article
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Published in:
Clinical Genetics, 2014, v. 85, n. 3, p. 233, doi. 10.1111/cge.12138
By:
- Marle, N.;
- Martinet, D.;
- Aboura, A.;
- Joly‐Helas, G.;
- Andrieux, J.;
- Flori, E.;
- Puechberty, J.;
- Vialard, F.;
- Sanlaville, D.;
- Fert Ferrer, S.;
- Bourrouillou, G.;
- Tabet, A.C.;
- Quilichini, B.;
- Simon‐Bouy, B.;
- Bazin, A.;
- Becker, M.;
- Stora, H.;
- Amblard, S.;
- Doco‐Fenzy, M.;
- Molina Gomes, D.
Publication type:
Article
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
Published in:
BMC Health Services Research, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12913-023-09373-z
By:
- Soilly, AL;
- Robert-Viard, C;
- Besse, C;
- Bruel, AL;
- Gerard, B;
- Boland, A;
- Piton, A;
- Duffourd, Y;
- Muller, J;
- Poë, C;
- Jouan, T;
- El Doueiri, S;
- Faivre, L;
- Bacq-Daian, D;
- Isidor, B;
- Genevieve, D;
- Odent, S;
- Philip, N;
- Doco-Fenzy, M;
- Lacombe, D
Publication type:
Article
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Published in:
2018
By:
- Baer, S.;
- Afenjar, A.;
- Smol, T.;
- Piton, A.;
- Gérard, B.;
- Alembik, Y.;
- Bienvenu, T.;
- Boursier, G.;
- Boute, O.;
- Colson, C.;
- Cordier, M.‐p.;
- Cormier‐daire, V.;
- Delobel, B.;
- Doco‐fenzy, M.;
- Duban‐bedu, B.;
- Fradin, M.;
- Geneviève, D.;
- Goldenberg, A.;
- Grelet, M.;
- Haye, D.
Publication type:
Case Study
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Published in:
Human Mutation, 2008, v. 29, n. 1, p. 150, doi. 10.1002/humu.20623
By:
- Callewaert, B.L.;
- Willaert, A.;
- Kerstjens-Frederikse, W.S.;
- De Backer, J.;
- Devriendt, K.;
- Albrecht, B.;
- Ramos-Arroyo, M.A.;
- Doco-Fenzy, M.;
- Hennekam, R.C.M.;
- Pyeritz, R.E.;
- Krogmann, O.N.;
- Gillessen-kaesbach, G.;
- Wakeling, E.L.;
- Nik-zainal, S.;
- Francannet, C.;
- Mauran, P.;
- Booth, C.;
- Barrow, M.;
- Dekens, R.;
- Loeys, B.L.
Publication type:
Article

Found: 6

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.