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Works by Lovecchio, Tonio

Results: 5

1

Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination.

Published in:

Familial Cancer, 2009, v. 8, n. 2, p. 119, doi. 10.1007/s10689-008-9215-7

By:

Aissi-Ben Moussa, Sana;
Moussa, Amel;
Lovecchio, Tonio;
Kourda, Nadia;
Najjar, Taoufik;
Ben Jilani, Sarra;
El Gaaied, Amel;
Porchet, Nicole;
Manai, Mohamed;
Buisine, Marie-Pierre

Publication type:

Article

2

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Published in:

European Journal of Endocrinology, 2020, v. 182, n. 1, p. 57, doi. 10.1530/EJE-19-0641

By:

Coppin, Lucie;
Dufosse, Margaux;
Romanet, Pauline;
Giraud, Sophie;
North, Marie-Odile;
Bauters, Catherine Cardot;
Borson-Chazot, Françoise;
Duchesne, Laurence;
Métallo, Mélanie;
Lovecchio, Tonio;
Barlier, Anne;
Odou, Marie-Françoise

Publication type:

Article

3

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Published in:

Genes, Chromosomes & Cancer, 2023, v. 62, n. 4, p. 210, doi. 10.1002/gcc.23112

By:

Leclerc, Julie;
Beaumont, Marie;
Vibert, Roseline;
Pinson, Stéphane;
Vermaut, Catherine;
Flament, Cathy;
Lovecchio, Tonio;
Delattre, Lucie;
Demay, Christophe;
Coulet, Florence;
Guillerm, Erell;
Hamzaoui, Nadim;
Benusiglio, Patrick R.;
Brahimi, Afane;
Cornelis, François;
Delhomelle, Hélène;
Fert‐Ferrer, Sandra;
Fournier, Benjamin P. J.;
Hovnanian, Alain;
Legrand, Clémentine

Publication type:

Article

4

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.

Published in:

Genes, Chromosomes & Cancer, 2020, v. 59, n. 2, p. 111, doi. 10.1002/gcc.22804

By:

Vermaut, Catherine;
Leclerc, Julie;
Vasseur, Francis;
Wacrenier, Agnes;
Lovecchio, Tonio;
Boidin, Denis;
Rebergue, Marie‐Helene;
Cattan, Stephane;
Manouvrier, Sylvie;
Lejeune, Sophie;
Buisine, Marie‐Pierre

Publication type:

Article

5

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 3, p. 383, doi. 10.1038/sj.ejhg.5201765

By:

Baert-Desurmont, Stephanie;
Buisine, Marie-Pierre;
Bessenay, Emilie;
Frerot, Stephanie;
Lovecchio, Tonio;
Martin, Cosette;
Olschwang, Sylviane;
Qing Wang;
Frebourg, Thierry

Publication type:

Article