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Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 35, doi. 10.1111/cge.12731
By:
- Hervé, B.;
- Coussement, A.;
- Gilbert, T.;
- Dumont, F.;
- Jacques, S.;
- Cuisset, L.;
- Chicard, M.;
- Hizem, S.;
- Bourdoncle, P.;
- Letourneur, F.;
- Dupont, C.;
- Vialard, F.;
- Choiset, A.;
- Dupont, J.‐M.
Publication type:
Article
Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3180, doi. 10.1002/ajmg.a.36777
By:
- Milosevic, J.;
- El Khattabi, L.;
- Roubergue, A.;
- CoussemENt, A.;
- Doummar, D.;
- Cuisset, L.;
- Le Tessier, D.;
- Flageul, B.;
- Viot, G.;
- Lebbar, A.;
- Dupont, J.M.
Publication type:
Article
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
Published in:
Rheumatology, 2007, v. 46, n. 10, p. 1597, doi. 10.1093/rheumatology/kem200
By:
- Ammouri, W.;
- Cuisset, L.;
- Rouaghe, S.;
- Rolland, M.-O.;
- Delpech, M.;
- Grateau, G.;
- Ravet, N.
Publication type:
Article
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
Published in:
Rheumatology, 2007, v. 46, n. 10, p. 1597, doi. 10.1093/rheumatology/kem200
By:
- W. Ammouri;
- L. Cuisset;
- S. Rouaghe;
- M.-O. Rolland;
- M. Delpech;
- G. Grateau;
- N. Ravet
Publication type:
Article
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.
Published in:
2003
By:
- Granel, B;
- Philip, N;
- Serratrice, J;
- Ene, N;
- Grateau, G;
- Dodé, C;
- Cuisset, L;
- Disdier, P;
- Berbis, P;
- Delpech, M;
- Weiller, P J
Publication type:
journal article
CIAS1 Mutation in a Patient with Overlap between Muckle-Wells and Chronic Infantile Neurological Cutaneous and Articular Syndromes.
Published in:
Dermatology (10188665), 2003, v. 206, n. 3, p. 257
By:
- B. Granel;
- N. Philip;
- J. Serratrice;
- N. Ene;
- G. Grateau;
- C. Dodé;
- L. Cuisset;
- P. Disdier;
- P. Berbis;
- M. Delpech;
- P.J. Weiller
Publication type:
Article
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
Published in:
2001
By:
- Simon, Anna;
- Cuisset, Laurence;
- Vincent, M.-Françoise;
- van der Velde-Visser, Saskia D.;
- Delpech, Marc;
- van der Meer, Jos W. M.;
- Drenth, Joost P. H.;
- Simon, A;
- Cuisset, L;
- Vincent, M F;
- van Der Velde-Visser, S D;
- Delpech, M;
- van Der Meer, J W;
- Drenth, J P
Publication type:
journal article
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle–Wells and familial cold autoinflammatory syndromes.
Published in:
Rheumatology, 2008, v. 47, n. 3, p. 309, doi. 10.1093/rheumatology/kem318
By:
- Maksimovic, L.;
- Stirnemann, J.;
- Caux, F.;
- Ravet, N.;
- Rouaghe, S.;
- Cuisset, L.;
- Letellier, E.;
- Grateau, G.;
- Morin, A.-S.;
- Fain, O.
Publication type:
Article
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
Published in:
2005
By:
- Rolland, M.;
- Cuisset, L.;
- Bozec, J.;
- Guffon, N.;
- VianeySaban, C.
Publication type:
Report
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
Published in:
Prenatal Diagnosis, 2003, v. 23, n. 11, p. 938, doi. 10.1002/pd.732
By:
- L'Herminé, A. Coulomb;
- Aboura, A.;
- Brisset, S.;
- Cuisset, L.;
- Castaigne, V.;
- Labrune, P.;
- Frydman, R.;
- Tachdjian, G.
Publication type:
Article

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