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Author/Creator Schwartz, Mathias

2. Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort. Issue 6 (3rd September 2019)

Authors:
Schwartz, Mathias; Korenbaum, Clement; Benfoda, Meriem; Mary, Mickael; Colas, Chrystelle; Coulet, Florence; Parrin, Melissa; Jonveaux, Philippe; Ingster, Olivier; Granier, Sandra; De Mestier, Louis; Cros, Jerome; Riffault, Angelique; Muller, Marie; Levy, Philippe; Rebours, Vinciane; Greenhalf, Wi...
Journal:
Clinical genetics
Issue:
Volume 96:Issue 6(2019)
Page Start:
579
Record Type:
Journal Article
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3. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants. Issue 12 (29th August 2022)

Authors:
Coudert, Marie; Drouet, Youenn; Delhomelle, Hélène; Svrcek, Magali; Benusiglio, Patrick R; Coulet, Florence; Clark, Dana Farengo; Katona, Bryson W; van Hest, Liselotte P; van der Kolk, Lizet E; Cats, Annemieke; van Dieren, Jolanda M; Nehoray, Bita; Slavin, Thomas; Spier, Isabel; Hüneburg, Robert;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1189
Record Type:
Journal Article
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4. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017)

Authors:
Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 1(2018)
Page Start:
151
Record Type:
Journal Article
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5. Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. (November 2018)

Authors:
Baert-Desurmont, Stéphanie; Coutant, Sophie; Charbonnier, Françoise; Macquere, Pierre; Lecoquierre, François; Schwartz, Mathias; Blanluet, Maud; Vezain, Myriam; Lanos, Raphaël; Quenez, Olivier; Bou, Jacqueline; Bouvignies, Emilie; Fourneaux, Steeve; Manase, Sandrine; Vasseur, Stéphanie; Mauillon,...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 11(2018)
Page Start:
1597
Record Type:
Journal Article
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6. Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers. Issue 4 (October 2017)

Authors:
Rouen, Alexandre; Carlier, Léa; Heide, Solveig; Egloff, Matthieu; Marzin, Pauline; Ader, Flavie; Schwartz, Mathias; Rogers, Eli; Joyé, Nicole; Balet, Richard; Lédée, Nathalie; Prat-Ellenberg, Laura; Cassuto, Nino Guy; Siffroi, Jean-Pierre
Journal:
Reproductive biomedicine online
Issue:
Volume 35:Issue 4(2017)
Page Start:
372
Record Type:
Journal Article
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