يعرض 1 - 10 نتائج من 30 نتيجة بحث عن '"Hélène Tubeuf"', وقت الاستعلام: 1.08s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    المؤلفون: Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

    المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)

    مصطلحات موضوعية: Branch point, Prediction, RNA, Benchmark, HSF, SVM-BPfinder, Biotechnology, TP248.13-248.65, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1471-2164Test

    الوصول الحر: https://doaj.org/article/da6b4502084e4b2a87009788da78c331Test

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    Identification of genetic variants for clinical management of familial colorectal tumors

    المؤلفون: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

    المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)

    مصطلحات موضوعية: Lynch syndrome, Gene panel testing, CHEK2, RNA splicing mutations, Internal medicine, RC31-1245, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s12881-018-0533-9Test; https://doaj.org/toc/1471-2350Test

    الوصول الحر: https://doaj.org/article/a471ced28e4c4bb7ac5c073ec240e25dTest

    View record in DOAJ النص الكامل

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  3. 3
    دورية أكاديمية
    Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

    المؤلفون: Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

    المصدر: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)

    مصطلحات موضوعية: BRCA1, BRCA2, Breast cancer, Gene panel testing, RNA splicing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s13053-018-0086-0Test; https://doaj.org/toc/1897-4287Test

    الوصول الحر: https://doaj.org/article/6deea8d410b04800addd158ba179a27cTest

    View record in DOAJ النص الكامل

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  4. 4
    دورية أكاديمية
    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

    المؤلفون: Benedito Mauro Rossi, Edenir Inêz Palmero, Francisco López-Kostner, Carlos Sarroca, Carlos Alberto Vaccaro, Florencia Spirandelli, Patricia Ashton-Prolla, Yenni Rodriguez, Henrique de Campos Reis Galvão, Rui Manuel Reis, André Escremim de Paula, Luis Gustavo Capochin Romagnolo, Karin Alvarez, Adriana Della Valle, Florencia Neffa, Pablo German Kalfayan, Enrique Spirandelli, Sergio Chialina, Melva Gutiérrez Angulo, Maria del Carmen Castro-Mujica, Julio Sanchez de Monte, Richard Quispe, Sabrina Daniela da Silva, Norma Teresa Rossi, Claudia Barletta-Carrillo, Susana Revollo, Ximena Taborga, L. Lena Morillas, Hélène Tubeuf, Erika Maria Monteiro-Santos, Tamara Alejandra Piñero, Constantino Dominguez-Barrera, Patrik Wernhoff, Alexandra Martins, Eivind Hovig, Pål Møller, Mev Dominguez-Valentin

    المصدر: BMC Cancer, Vol 17, Iss 1, Pp 1-26 (2017)

    مصطلحات موضوعية: Lynch syndrome, Mmr, Latin America, Variants, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s12885-017-3599-4Test; https://doaj.org/toc/1471-2407Test

    الوصول الحر: https://doaj.org/article/1c493e85a2f64dbc8249789857b5f939Test

    View record in DOAJ النص الكامل

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  5. 5
    Supplementary Tables from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

    المؤلفون: Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b0332a1ad78e42684beaf0be96661fTest
    https://doi.org/10.1158/0008-5472.22426135.v1Test


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  6. 6
    Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

    المؤلفون: Alexandra Martins, Shyam K. Sharan, Pascaline Gaildrat, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Angela R. Solano, Laurence Venat-Bouvet, Chrystelle Colas, Séverine Audebert-Bellanger, Fátima Vaz, Pascal Pujol, Danièle Muller, Hélène Larbre, Violaine Bourdon, Françoise Bonnet-Dorion, Myriam Vezain, Daniela Di Giacomo, Aurélie Drouet, Omar Soukarieh, Eileen Southon, Susan Reid, Linda Cleveland, Marine Guillaud-Bataille, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Françoise Révillion, Laëtitia Meulemans, Alice Fiévet, Gaia Castelain, Julie Hauchard, Virginie Caux-Moncoutier, Sophie Krieger, Julie Rondeaux, Teresa Sullivan, Sandrine M. Caputo, Hélène Tubeuf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276434d538529130aa9d7a58debca642Test
    https://doi.org/10.1158/0008-5472.c.6512242.v1Test


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  7. 7
    Supplementary Data Tables S1-S4 from Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

    المؤلفون: Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e06557cf0fc6980f4916530d042458Test
    https://doi.org/10.1158/0008-5472.22426126.v1Test


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  8. 8
    Supplementary Data from Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

    المؤلفون: Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497aab6221fbe0213b7bd594d2f6afd9Test
    https://doi.org/10.1158/0008-5472.22426123Test


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  9. 9
    Data from Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

    المؤلفون: Pascaline Gaildrat, Alexandra Martins, Maaike P.G. Vreeswijk, Thierry Frebourg, Claude Houdayer, Dominique Stoppa-Lyonnet, Harry Vrieling, Lisa Golmard, Fabienne M.G.R. Calléja, Charlotte Grout, Aurélie Drouet, Maud Privat, Paul Vilquin, Sarab Lizard, Violaine Bourdon, Myriam Bronner, Virginie Guibert, Françoise Bonnet-Dorion, Omar Soukarieh, Hélène Tubeuf, Capucine Delnatte, Françoise Révillion, Johanna Sokolowska, Nadia Boutry-Kryza, Mélanie Léone, Virginie Caux-Moncoutier, Marine Guillaud-Bataille, Sophie Krieger, Sandrine M. Caputo, Romy L.S. Mesman, Laëtitia Meulemans

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e068c6bd525556ede8c1593c3d5f2faTest
    https://doi.org/10.1158/0008-5472.c.6512236Test


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  10. 10
    SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

    المؤلفون: Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger

    المصدر: Leman, R, Parfait, B, Vidaud, D, Girodon, E, Pacot, L, Le Gac, G, Ka, C, Ferec, C, Fichou, Y, Quesnelle, C, Aucouturier, C, Muller, E, Vaur, D, Castera, L, Boulouard, F, Ricou, A, Tubeuf, H, Soukarieh, O, Gaildrat, P, Riant, F, Guillaud-Bataille, M, Caputo, S M, Caux-Moncoutier, V, Boutry-Kryza, N, Bonnet-Dorion, F, Schultz, I, Rossing, M, Quenez, O, Goldenberg, L, Harter, V, Parsons, M T, Spurdle, A B, Frébourg, T, Martins, A, Houdayer, C & Krieger, S 2022, ' SPiP : Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing ', Human Mutation, vol. 43, no. 12, pp. 2308-2323 . https://doi.org/10.1002/humu.24491Test

    مصطلحات موضوعية: sequence variants, machine learning, SPiP, Genetics, RNA, splicing predictions, Genetics (clinical)

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f23e6a32d3c9cfdbbec60012cc9c0a3Test
    https://pubmed.ncbi.nlm.nih.gov/36273432Test


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