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Are all Xq26.2 duplications overlapping <italic>GPC3</italic> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?
Published in:
2018
By:
- Hammouche, E.;
- Cottereau, E.;
- Vuillaume, M.‐L.;
- Moizard, M.‐P.;
- Toutain, A.;
- Delrue, M.‐A.;
- Maftei, C.;
- Perrin, L.;
- Baumann, C.;
- Dupont, C.;
- Drunat, S.
Publication type:
Case Study
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Published in:
Clinical Genetics, 2018, v. 93, n. 2, p. 374, doi. 10.1111/cge.13074
By:
- Trimouille, A.;
- Lasseaux, E.;
- Barat, P.;
- Deiller, C.;
- Drunat, S.;
- Rooryck, C.;
- Arveiler, B.;
- Lacombe, D.
Publication type:
Article
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 550, doi. 10.1111/cge.12781
By:
- Putoux, A.;
- Alqahtani, A.;
- Pinson, L.;
- Paulussen, A.D.C.;
- Michel, J.;
- Besson, A.;
- Mazoyer, S.;
- Borg, I.;
- Nampoothiri, S.;
- Vasiljevic, A.;
- Uwineza, A.;
- Boggio, D.;
- Champion, F.;
- de Die‐Smulders, C.E.;
- Gardeitchik, T.;
- van Putten, W.K.;
- Perez, M.J.;
- Musizzano, Y.;
- Razavi, F.;
- Drunat, S.
Publication type:
Article
Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1735, doi. 10.1002/ajmg.a.35402
By:
- Thauvin-Robinet, C.;
- Drunat, S.;
- Saugier Veber, P.;
- Chantereau, D.;
- Cossée, M.;
- Cassini, C.;
- Soichot, P.;
- Masurel-Paulet, A.;
- De Monléon, J.V.;
- Sagot, P.;
- Huet, F.;
- Antin, M.;
- Calmels, N.;
- Faivre, L.;
- Gérard, B.
Publication type:
Article

Found: 4

Are all Xq26.2 duplications overlapping <italic>GPC3</italic> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.