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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Published in:
BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6484-5
By:
- Leman, Raphaël;
- Tubeuf, Hélène;
- Raad, Sabine;
- Tournier, Isabelle;
- Derambure, Céline;
- Lanos, Raphaël;
- Gaildrat, Pascaline;
- Castelain, Gaia;
- Hauchard, Julie;
- Killian, Audrey;
- Baert-Desurmont, Stéphanie;
- Legros, Angelina;
- Goardon, Nicolas;
- Quesnelle, Céline;
- Ricou, Agathe;
- Castera, Laurent;
- Vaur, Dominique;
- Le Gac, Gérald;
- Ka, Chandran;
- Fichou, Yann
Publication type:
Article
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63648
By:
- Vautier, Sabine;
- Mauillon, Jacques;
- Parodi, Nathalie;
- Bou, Jacqueline;
- Kasper, Edwige;
- Manase, Sandrine;
- Houdayer, Claude;
- Baert‐Desurmont, Stéphanie
Publication type:
Article
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0841-0
By:
- Goldenberg, Alice;
- Marguet, Florent;
- Gilard, Vianney;
- Cardine, Aude-Marie;
- Hassani, Adnan;
- Doz, François;
- Radi, Sophie;
- Vasseur, Stéphanie;
- Bou, Jacqueline;
- Branchaud, Maud;
- Houdayer, Claude;
- Baert-Desurmont, Stéphanie;
- Laquerriere, Annie;
- Frebourg, Thierry
Publication type:
Article
Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer.
Published in:
Cancers, 2023, v. 15, n. 7, p. 2176, doi. 10.3390/cancers15072176
By:
- Levacher, Corentin;
- Viennot, Mathieu;
- Drouet, Aurélie;
- Beaussire, Ludivine;
- Coutant, Sophie;
- Théry, Jean-Christophe;
- Baert-Desurmont, Stéphanie;
- Laé, Marick;
- Ruminy, Philippe;
- Houdayer, Claude
Publication type:
Article
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.
Published in:
Database: The Journal of Biological Databases & Curation, 2013, v. 2013, p. 1, doi. 10.1093/database/bat036
By:
- Grandval, Philippe;
- Fabre, Aurélie J.;
- Gaildrat, Pascaline;
- Baert-Desurmont, Stéphanie;
- Buisine, Marie-Pierre;
- Ferrari, Anthony;
- Qing Wang;
- Béroud, Christophe;
- Olschwang, Sylviane
Publication type:
Article
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1305, doi. 10.1038/ejhg.2014.16
By:
- Castéra, Laurent;
- Krieger, Sophie;
- Rousselin, Antoine;
- Legros, Angélina;
- Baumann, Jean-Jacques;
- Bruet, Olivia;
- Brault, Baptiste;
- Fouillet, Robin;
- Goardon, Nicolas;
- Letac, Olivier;
- Baert-Desurmont, Stéphanie;
- Tinat, Julie;
- Bera, Odile;
- Dugast, Catherine;
- Berthet, Pascaline;
- Polycarpe, Florence;
- Layet, Valérie;
- Hardouin, Agnes;
- Frébourg, Thierry;
- Vaur, Dominique
Publication type:
Article
Reply to Talseth-Palmer et al.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 488, doi. 10.1038/ejhg.2011.235
By:
- Houlle, Solene;
- Charbonnier, Françoise;
- Houivet, Estelle;
- Tinat, Julie;
- Buisine, Marie-Pierre;
- Caron, Olivier;
- Benichou, Jacques;
- Baert-Desurmont, Stéphanie;
- Frebourg, Thierry
Publication type:
Article
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 8, p. 887, doi. 10.1038/ejhg.2011.44
By:
- Houlle, Solene;
- Charbonnier, Françoise;
- Houivet, Estelle;
- Tinat, Julie;
- Buisine, Marie-Pierre;
- Caron, Olivier;
- Benichou, Jacques;
- Baert-Desurmont, Stéphanie;
- Frebourg, Thierry
Publication type:
Article
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 447, doi. 10.1007/s10689-024-00403-1
By:
- Guerrini-Rousseau, Léa;
- Gallon, Richard;
- Pineda, Marta;
- Brugières, Laurence;
- Baert-Desurmont, Stéphanie;
- Corsini, Carole;
- Dangouloff-Ros, Volodia;
- Gorris, Mark A. J.;
- Haberler, Christine;
- Hoarau, Pauline;
- Jongmans, Marjolijn C.;
- Kloor, Matthias;
- Loeffen, Jan;
- Rigaud, Charlotte;
- Robbe, Julie;
- Vibert, Roseline;
- Weijers, Dilys;
- Wimmer, Katharina;
- Colas, Chrystelle
Publication type:
Article
Detecting inversions in routine molecular diagnosis in MMR genes.
Published in:
Familial Cancer, 2022, v. 21, n. 4, p. 423, doi. 10.1007/s10689-021-00287-5
By:
- Kasper, Edwige;
- Coutant, Sophie;
- Manase, Sandrine;
- Vasseur, Stéphanie;
- Macquère, Pierre;
- Bougeard, Gaëlle;
- Faivre, Laurence;
- Ingster, Olivier;
- Baert-Desurmont, Stéphanie;
- Houdayer, Claude
Publication type:
Article
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
Published in:
Familial Cancer, 2018, v. 17, n. 4, p. 531, doi. 10.1007/s10689-017-0067-x
By:
- von Salomé, Jenny;
- Liu, Tao;
- Keihäs, Markku;
- Morak, Moni;
- Holinski-Feder, Elke;
- Berry, Ian R.;
- Moilanen, Jukka S.;
- Baert-Desurmont, Stéphanie;
- Lindblom, Annika;
- Lagerstedt-Robinson, Kristina
Publication type:
Article
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Published in:
Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
By:
- Bougeard, Gaëlle;
- Olivier-Faivre, Laurence;
- Baert-Desurmont, Stéphanie;
- Tinat, Julie;
- Martin, Cosette;
- Bouvignies, Emilie;
- Vasseur, Stéphanie;
- Huet, Frédéric;
- Couillault, Gérard;
- Vabres, Pierre;
- Le Pessot, Florence;
- Chapusot, Caroline;
- Malka, David;
- Bressac-de Paillerets, Brigitte;
- Tosi, Mario;
- Frebourg, Thierry
Publication type:
Article
The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2014, v. 13, n. 1, p. 127, doi. 10.1007/s10689-013-9667-2
By:
- Renaux-Petel, Mariette;
- Sesboüé, Richard;
- Baert-Desurmont, Stéphanie;
- Vasseur, Stéphanie;
- Fourneaux, Steeve;
- Bessenay, Emilie;
- Frébourg, Thierry;
- Bougeard, Gaëlle
Publication type:
Article
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Published in:
Genes, Chromosomes & Cancer, 2017, v. 56, n. 2, p. 128, doi. 10.1002/gcc.22419
By:
- Heddar, Abdelkader;
- Fermey, Pierre;
- Coutant, Sophie;
- Angot, Emilie;
- Sabourin, Jean‐Christophe;
- Michelin, Paul;
- Parodi, Nathalie;
- Charbonnier, Françoise;
- Vezain, Myriam;
- Bougeard, Gaëlle;
- Baert‐Desurmont, Stéphanie;
- Frébourg, Thierry;
- Tournier, Isabelle
Publication type:
Article
Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers.
Published in:
Journal of Cancer Epidemiology, 2009, p. 1, doi. 10.1155/2009/791754
By:
- Olschwang, Sylviane;
- Kai Yu;
- Lasset, Christine;
- Baert-Desurmont, Stéphanie;
- Buisine, Marie-Pierre;
- Qing Wang;
- Hutter, Pierre;
- Rouleau, Etienne;
- Caron, Olivier;
- Bourdon, Violaine;
- Thomas, Gilles
Publication type:
Article
A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1500, doi. 10.1002/ajmg.a.34017
By:
- Baert-Desurmont, Stéphanie;
- Piton, Nicolas;
- Bou, Jacqueline;
- Tinat, Julie;
- Guimbaud, Rosine;
- Selves, Janick;
- Frébourg, Thierry
Publication type:
Article
La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l'égide de l'Institut National du Cancer (INCa).
Published in:
Hépato-Gastro & Oncologie Digestive, 2020, v. 27, n. 4, p. 396, doi. 10.1684/hpg.2020.1944
By:
- Buisine, Marie-Pierre;
- Bonnet, Delphine;
- Bonadona, Valérie;
- Coulet, Florence;
- Baert-Desurmont, Stéphanie;
- Dhooge, Marion;
- Saurin, Jean-Christophe;
- Remenieras, Audrey;
- Bignon, Yves-Jean;
- Caron, Olivier;
- De Pauw, Antoine;
- Colas, Chrystelle;
- Buecher, Bruno
Publication type:
Article
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1993, doi. 10.1002/humu.23845
By:
- Chatron, Nicolas;
- Cassinari, Kevin;
- Quenez, Olivier;
- Baert‐Desurmont, Stéphanie;
- Bardel, Claire;
- Buisine, Marie‐Pierre;
- Calpena, Eduardo;
- Capri, Yline;
- Corominas Galbany, Jordi;
- Diguet, Flavie;
- Edery, Patrick;
- Isidor, Bertrand;
- Labalme, Audrey;
- Le Caignec, Cedric;
- Lévy, Jonathan;
- Lecoquierre, François;
- Lindenbaum, Pierre;
- Pichon, Olivier;
- Rollat‐Farnier, Pierre‐Antoine;
- Simonet, Thomas
Publication type:
Article
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Published in:
Human Mutation, 2008, v. 29, n. 12, p. 1412, doi. 10.1002/humu.20796
By:
- Tournier, Isabelle;
- Vezain, Myriam;
- Martins, Alexandra;
- Charbonnier, Françoise;
- Baert-Desurmont, Stéphanie;
- Olschwang, Sylviane;
- Wang, Qing;
- Buisine, Marie Pierre;
- Soret, Johann;
- Tazi, Jamal;
- Frébourg, Thierry;
- Tosi, Mario
Publication type:
Article
Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Published in:
2016
By:
- Soukarieh, Omar;
- Gaildrat, Pascaline;
- Hamieh, Mohamad;
- Drouet, Aurélie;
- Baert-Desurmont, Stéphanie;
- Frébourg, Thierry;
- Tosi, Mario;
- Martins, Alexandra
Publication type:
Correction Notice
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Published in:
PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005756
By:
- Soukarieh, Omar;
- Gaildrat, Pascaline;
- Hamieh, Mohamad;
- Drouet, Aurélie;
- Baert-Desurmont, Stéphanie;
- Frébourg, Thierry;
- Tosi, Mario;
- Martins, Alexandra
Publication type:
Article

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