المؤلفون: Karl Grenier, MD, PhD, Jean-Baptiste Rivière, PhD, Bouchra Ouled Amar Bencheikh, PhD, Andrea Liliam Gomez Corredor, PhD, Benjamin Christopher Shieh, MD, Hangjun Wang, MD, Pierre Olivier Fiset, MD, PhD, Sophie Camilleri-Broët, MD, PhD

المصدر: JTO Clinical and Research Reports, Vol 4, Iss 7, Pp 100530- (2023)

مصطلحات موضوعية: ROS1, NSCLC, Lung adenocarcinoma, EGFR, Biomarker, Immunohistochemistry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666364323000693Test; https://doaj.org/toc/2666-3643Test

الوصول الحر: https://doaj.org/article/9f9cb44d4e1641f0a394aabbb3688464Test

المؤلفون: Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Hasan Çalışkan, Tomislav Kokotović, Antonela Blažeković, Kristina Gotovac Jerčić, Silvana Markovic, Tamara Žigman, Krnjak Goran, Nina Barišić, Vlasta Đuranović, A.W. van den Ban, Fran Borovečki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju K. Gowda, Arjan Bouman, Clarissa Rocca, Issam Al-Khawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean‐Baptiste Rivière, Myriam Srour, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja C. Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

مصطلحات موضوعية: Molecular Basis of Rett Syndrome and Related Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Deep Brain Stimulation for Neurological Disorders, Neurology, Medicine, Health Sciences, Standards and Guidelines for Genetic Variant Interpretation, Phenotype Analysis, Epilepsy, Autism spectrum disorder, Biology, Phenotype, Global developmental delay, Genotype, Intellectual disability, Autism, Allele, Neurodevelopmental disorder, Internal medicine, Neuroscience, Gene, Psychiatry

العلاقة: https://dx.doi.org/10.60692/2a23f-mgc77Test

الإتاحة: https://doi.org/10.60692/xjzsa-4v86810.60692/2a23f-mgc77Test

المؤلفون: Martin Chevarin, Diana Alcantara, Julliette Albuisson, Marie-Agnes Collonge-Rame, Celine Populaire, Zohair Selmani, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Patrick Callier, Yannis Duffourd, Phillipe Jonveaux, Yves-Jean Bignon, Isabelle Coupier, Francios Cornelis, Christophe Cordier, Monique Mozelle-Nivoix, Jean-Baptiste Rivière, Paul Kuentz, Christal Thauvin, Romain Boidot, Francios Ghiringhelli, Mark O'Driscoll, Lawrence Faivre, Sophie Nambot

مصطلحات موضوعية: ATR, exome sequencing, extreme phenotype, genetic predisposition to cancer, male breast cancer, Female, Humans, Male, Alleles, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Genetic Predisposition to Disease, Phenotype, Phosphorylation

العلاقة: 10779/uos.23496395.v1; https://figshare.com/articles/journal_contribution/The_extreme_phenotype_approach_applied_to_male_breast_cancer_allows_the_identification_of_rare_variants_of_ATR_as_potential_breast_cancer_susceptibility_alleles/23496395Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_extreme_phenotype_approach_applied_to_male_breast_cancer_allows_the_identification_of_rare_variants_of_ATR_as_potential_breast_cancer_susceptibility_alleles/23496395Test

المؤلفون: Nicole Ezer, Hangjun Wang, Andrea Gomez Corredor, Pierre Olivier Fiset, Ayesha Baig, Léon C. van Kempen, George Chong, Marianne S.M. Issac, Richard Fraser, Alan Spatz, Jean-Baptiste Riviere, Philippe Broët, Jonathan Spicer, Sophie Camilleri-Broët, MD, PhD

المصدر: Cancer Treatment and Research Communications, Vol 29, Iss , Pp 100484- (2021)

مصطلحات موضوعية: Multiple primary lung cancers, Intrapulmonary metastases, NGS, Comprehensive histologic assessment, Probabilistic model, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468294221001805Test; https://doaj.org/toc/2468-2942Test; https://doaj.org/article/dc04ed82ecd74740b72116c2e0a8e691Test

الإتاحة: https://doi.org/10.1016/j.ctarc.2021.100484Test
https://doaj.org/article/dc04ed82ecd74740b72116c2e0a8e691Test

المؤلفون: Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

المساهمون: Clinical Genetics, University of St Andrews. School of Biology, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. St Andrews Bioinformatics Unit

المصدر: Human Genetics. Springer-Verlag
Human Genetics

مصطلحات موضوعية: MCC, NDAS, Genetics, QH426 Genetics, QH426, Genetics (clinical)

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145f2202f9c8b9a470b51960f983f5e6Test
https://doi.org/10.1007/s00439-023-02552-2Test

المؤلفون: Jean-Baptiste Rivière, Constantin Polychronakos, Meihang Li

المصدر: Trends in Genetics. 38:321-324

مصطلحات موضوعية: Genetics, Biology, medicine.disease, Monogenic inheritance, Phenotype, Diabetes Mellitus, Type 2, Insulin-Secreting Cells, Diabetes mellitus, Mutation, medicine, Humans, Family history

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f87a3691f9ecd1495734e0330c3c95Test
https://doi.org/10.1016/j.tig.2021.10.001Test

المؤلفون: Zhuo Ran Cai, Catherine McCuaig, Afshin Hatami, Jean‐Baptiste Rivière, Danielle Marcoux

المصدر: Pediatric Dermatology. 39:281-287

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce09f89e25b3b5fb65f3d5c23556b3cbTest
https://doi.org/10.1111/pde.14923Test

المؤلفون: Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet

المساهمون: Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience

المصدر: Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285Test

مصطلحات موضوعية: Ataxia, brain, Cardiomyopathy, SARS1, Loss of Heterozygosity, Biology, Amino Acyl-tRNA Synthetases, chemistry.chemical_compound, deafness, death, Genetics, medicine, Protein biosynthesis, Missense mutation, Humans, Decompensation, aminoacyl-tRNA synthetase, Child, tRNA, Genetics (clinical), aminoacylation, Aminoacyl tRNA synthetase, medicine.disease, Elongation factor, chemistry, intellectual disability, Transfer RNA, medicine.symptom, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c2348fc9d2866c9be5ca55eaa73a8aTest
https://doi.org/10.1002/humu.24285Test

المؤلفون: Karl Grenier, Jean-Baptiste Rivière, Bouchra Ouled Amar Bencheikh, Andrea Gomez, Benjamin Christopher Shieh, Hangjun Wang, Pierre Olivier Fiset, Sophie Camilleri-Broët

المصدر: JTO Clinical and Research Reports. :100530

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Oncology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b031b389ff285cc6f536aec16e608f60Test
https://doi.org/10.1016/j.jtocrr.2023.100530Test

المؤلفون: Isabelle Ruel, I Iatan, A Guerin, L Ngufor, Jacques Genest, Jean-Baptiste Rivière

المصدر: Journal of Clinical Lipidology. 16:e53-e54

مصطلحات موضوعية: medicine.medical_specialty, Mutation, Nutrition and Dietetics, medicine.diagnostic_test, business.industry, PCSK9, Endocrinology, Diabetes and Metabolism, Genetic disorder, Familial hypercholesterolemia, medicine.disease, medicine.disease_cause, Genetic analysis, Internal medicine, medicine, Internal Medicine, Multiplex ligation-dependent probe amplification, business, Cardiology and Cardiovascular Medicine, Founder effect, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad124a19bf94aad3ff552230391bfb0Test
https://doi.org/10.1016/j.jacl.2022.05.034Test