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Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.
Published in:
Clinical Genetics, 2016, v. 89, n. 2, p. 267, doi. 10.1111/cge.12672
By:
- Grandval, P.;
- Fabre, A.J.;
- Béroud, C.;
- Olschwang, S.
Publication type:
Article
The new Ghent criteria for Marfan syndrome: what do they change?
Published in:
Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
By:
- Faivre, L;
- Collod-Beroud, G;
- Adès, L;
- Arbustini, E;
- Child, A;
- Callewaert, BL;
- Loeys, B;
- Binquet, C;
- Gautier, E;
- Mayer, K;
- Arslan-Kirchner, M;
- Grasso, M;
- Beroud, C;
- Hamroun, D;
- Bonithon-Kopp, C;
- Plauchu, H;
- Robinson, PN;
- De Backer, J;
- Coucke, P;
- Francke, U
Publication type:
Article
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Published in:
Clinical Genetics, 2007, v. 72, n. 6, p. 582, doi. 10.1111/j.1399-0004.2007.00906.x
By:
- Krahn, M.;
- Pécheux, C.;
- Chapon, F.;
- Béroud, C.;
- Drouin-Garraud, V.;
- Laforet, P.;
- Romero, N. B.;
- Penisson-Besnier, I.;
- Bernard, R.;
- Urtizberea, J. A.;
- Leturcq, F.;
- Lévy, N.
Publication type:
Article
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Published in:
2007
By:
- Girardet, A.;
- Guittard, C.;
- Altieri, J.-P.;
- Templin, C.;
- Stremler, N.;
- Beroud, C.;
- des Georges, M.;
- Claustres, M.
Publication type:
Letter
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 491, doi. 10.1038/ejhg.2008.207
By:
- Faivre, L.;
- Collod-Beroud, G.;
- Callewaert, B.;
- Child, A.;
- Binquet, C.;
- Gautier, E.;
- Loeys, B. .L;
- Arbustini, E.;
- Mayer, K.;
- Arslan-Kirchner, M.;
- Stheneur, C.;
- Kiotsekoglou, A.;
- Comeglio, P.;
- Marziliano, N.;
- Wolf, J. E.;
- Bouchot, O.;
- Khau-Van-Kien, P.;
- Beroud, C.;
- Claustres, M.;
- Bonithon-Kopp, C.
Publication type:
Article
Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease.
Published in:
Neurosurgical Review, 2000, v. 23, n. 1, p. 1, doi. 10.1007/s101430050024
By:
- Richard, S.;
- David, P.;
- Marsot-Dupuch, K.;
- Giraud, S.;
- Béroud, C.;
- Resche, F.
Publication type:
Article
Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 464, doi. 10.1002/(SICI)1098-1004(1999)13:6<464::AID-HUMU6>3.0.CO;2-A
By:
- Gallou, C.;
- Joly, D.;
- Méjean, A.;
- Staroz, F.;
- Martin, N.;
- Tarlet, G.;
- Orfanelli, M.T.;
- Bouvier, R.;
- Droz, D.;
- Chrétien, Y.;
- Maréchal, J.M.;
- Richard, S.;
- Junien, C.;
- Béroud, C.
Publication type:
Article

Found: 7

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.

The new Ghent criteria for Marfan syndrome: what do they change?

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.

Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease.

Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC.