المؤلفون: Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findlinki, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi

المصدر: EBioMedicine, Vol 84, Iss , Pp 104246- (2022)

مصطلحات موضوعية: Primary ovarian insufficiency, Personalized medicine, NF-KB, Post - translational regulation, Meiosis/DNA repair genes, Mitophagy, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396422004285; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/617ed46466844b7380f9a8115b51a419

المؤلفون: Imène Lafraoui, Abdelkader Heddar, Adèle Cantalloube, Inès Braham, Maëliss Peigné, Claire Beneteau, Solenne Gricourt, Claire Poirsier, Stéphanie Legrand, Radka Stoeva, Laure Metayer-Amelot, Annina Lobersztajn, Soizic Lebrun, Nicolas Gruchy, Inès Abdennebi, Isabelle Cedrin-Durnerin, Hervé Fernandez, Dominique Luton, Antoine Torre, Léonore Zagdoun, Nicolas Chevalier, Mohamed Khrouf, Khaled Mahmoud, Sylvie Epelboin, Sophie Catteau-Jonard, Micheline Misrahi

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 11915

مصطلحات موضوعية: diminished ovarian reserve, primary ovarian insufficiency, cohort, next-generation sequencing, gene, DNA repair, pregnancy, fertility, genetic counseling

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms252211915

الاتاحة: https://doi.org/10.3390/ijms252211915

المؤلفون: Anne Helbling-Leclerc, Marie Falampin, Abdelkader Heddar, Léa Guerrini-Rousseau, Maud Marchand, Iphigenie Cavadias, Nathalie Auger, Brigitte Bressac-de Paillerets, Laurence Brugieres, Bernard S. Lopez, Michel Polak, Filippo Rosselli, Micheline Misrahi

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 12460

مصطلحات موضوعية: BRCA1 mutation, diminished ovarian reserve, primary ovarian insufficiency, DNA repair, meiosis, Fanconi anemia, genetic counseling

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms252212460

الاتاحة: https://doi.org/10.3390/ijms252212460

المؤلفون: Abdelkader Heddar, Micheline Misrahi

المصدر: Fertility and Sterility. 118:421-424

مصطلحات موضوعية: Reproductive Medicine, Humans, Obstetrics and Gynecology, Female, Primary Ovarian Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a91e4fe255030dfb30607b24d1aa6c
https://doi.org/10.1016/j.fertnstert.2022.05.024

المؤلفون: Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy

المصدر: American journal of medical genetics. Part AREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d3a51772819dc5fee7d4ce45602927
https://pubmed.ncbi.nlm.nih.gov/36369750

المؤلفون: Abdelkader Heddar, Micheline Misrahi

المصدر: Human Genetics. 140:691-694

مصطلحات موضوعية: Heterozygote, Fanconi Anemia Complementation Group A Protein, Primary ovarian insufficiency, MEDLINE, Heterozygote advantage, Primary Ovarian Insufficiency, Biology, Bioinformatics, Molecular medicine, Human genetics, FANCA, Genetics, Humans, Female, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b9386d727b5867b462fea762f73526
https://doi.org/10.1007/s00439-020-02232-5

المؤلفون: Abdelkader Heddar, Marie Lambert, Gabriel Livera, Elodie Dardillac, Bernard S. Lopez, Helene Creux, Micheline Misrahi, Sandrine Caburet, Sébastien Messiaen, Sophie Tourpin

المساهمون: [Institut Cochin] Département Développement, Reproduction et Cancer (DRC), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106672. ⟨10.1136/jmedgenet-2019-106672⟩

مصطلحات موضوعية: 0301 basic medicine, DNA repair, Somatic cell, [SDV]Life Sciences [q-bio], RAD51, Cancer, Biology, medicine.disease, Phenotype, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genetics, Cancer research, medicine, Missense mutation, Chromosome breakage, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc701e458324b2243e011b0ad324832
https://doi.org/10.1136/jmedgenet-2019-106672

المؤلفون: Micheline Misrahi, Abdelkader Heddar

المصدر: Human Mutation. 41:1697-1699

مصطلحات موضوعية: Primary ovarian insufficiency, Genetics, FANCL, Biology, Bioinformatics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8cc6c9db2aad1da5aa8f694580be312a
https://doi.org/10.1002/humu.24077

المؤلفون: Nathalie Auger, Abdelkader Heddar, N Guichoux, Micheline Misrahi

المصدر: Human Reproduction. 36

مصطلحات موضوعية: Double strand, Reproductive Medicine, business.industry, Rehabilitation, Primary ovarian insufficiency, Nonsense mutation, Obstetrics and Gynecology, Medicine, business, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76c18a02fe3da0ca1db8af014d3bd805
https://doi.org/10.1093/humrep/deab130.576

المؤلفون: Abdelkader Heddar, Micheline Misrahi

المصدر: Clin Transl Gastroenterol

مصطلحات موضوعية: business.industry, Gastroenterology, MEDLINE, Liver failure, Etiology, Medicine, Correction, Bioinformatics, Indeterminate, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314bab9ddb64830d259d3b8f6141070b
https://europepmc.org/articles/PMC7494139/

المؤلفون: Abdelkader Heddar, Lambert Marie, Caburet Sandrine, Livera Gabriel, Creux Héléne, Dardillac Elodie, Micheline Misrahi, Bernard S. Lopez

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Fanconi anemia, business.industry, Internal medicine, Primary ovarian insufficiency, Trait, medicine, Cancer, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7aedaadcbb5ee92c129321f13846e26a
https://doi.org/10.1530/endoabs.70.aep1089

المؤلفون: Abdelkader Heddar, Micheline Misrahi

المصدر: Clinical and Translational Gastroenterology

مصطلحات موضوعية: Adult, Exome Sequencing, Correspondence, Gastroenterology, Humans, Pilot Projects, Chemical and Drug Induced Liver Injury, Liver Failure, Acute

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d01fd52ca4ee84455955b759fdf4508
http://europepmc.org/articles/PMC7447419

المؤلفون: Sandrine, Caburet, Abdelkader, Heddar, Elodie, Dardillac, Héléne, Creux, Marie, Lambert, Sébastien, Messiaen, Sophie, Tourpin, Gabriel, Livera, Bernard S, Lopez, Micheline, Misrahi

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1b603997bef14a0a5ef3aad3dee96751
https://pubmed.ncbi.nlm.nih.gov/32482800

المؤلفون: Abdelkader Heddar, Dominique Beckers, Dominique Roland, Micheline Misrahi, Baptiste Fouquet

المساهمون: UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (MGD) Service de pédiatrie

المصدر: The Journal of clinical endocrinology and metabolism, Vol. 105, no. 6, p. 1973–1982 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Skin Neoplasms, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Primary Ovarian Insufficiency, medicine.disease_cause, Biochemistry, Exon, 0302 clinical medicine, Endocrinology, Fertility preservation, MCM8, Child, Exome sequencing, Growth Disorders, Mutation, Minichromosome Maintenance Proteins, Follicular atresia, Homozygote, Middle Aged, Prognosis, Pedigree, growth hormone therapy, Phenotype, 030220 oncology & carcinogenesis, Female, pilomatricoma, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, fertility preservation, Context (language use), Short stature, 03 medical and health sciences, Young Adult, chromosomal breakage syndrome, Internal medicine, medicine, Humans, business.industry, Biochemistry (medical), Pilomatricoma, medicine.disease, Pilomatrixoma, 030104 developmental biology, business, Hair Diseases, Biomarkers, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a80c4dc396f723d198398e1e0530849
https://pubmed.ncbi.nlm.nih.gov/32242235

المؤلفون: Gabriel Livera, Bernard S. Lopez, Abdelkader Heddar, Sandrine Caburet, Sophie Tourpin, Micheline Misrahi, Sébastien Messiaen, Marie A. C. Lambert, Elodie Dardillac, Helene Creux

مصطلحات موضوعية: 0303 health sciences, endocrine system diseases, Somatic cell, business.industry, RAD51, Cancer, medicine.disease, 3. Good health, Andrology, 03 medical and health sciences, 0302 clinical medicine, Meiosis, Fanconi anemia, 030220 oncology & carcinogenesis, medicine, Missense mutation, Homologous recombination, business, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a8be9b08c1ded64b35ef18cd3cfe5f
https://doi.org/10.1101/751644

المؤلفون: Mathilde Domin Bernhard, Abdelkader Heddar, Linda Akloul, Michleine Misrahi, Yann Lurton, Sylvie Odent

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Internal medicine, Cohort, medicine, Diminished ovarian reserve, Biology, ERCC6, Phenotype, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e5a1aa6236e1540150c18f2248a33253
https://doi.org/10.1530/endoabs.63.gp61

المؤلفون: Stéphanie Baert-Desurmont, Sophie Coutant, Abdelkader Heddar, Paul Michelin, Thierry Frebourg, Myriam Vezain, Jean-Christophe Sabourin, Nathalie Parodi, Isabelle Tournier, Françoise Charbonnier, Emilie Angot, Pierre Fermey, Gaëlle Bougeard

المصدر: Genes, Chromosomes and Cancer. 56:128-134

مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer Research, Mutation, Multiple osteochondroma, Autosomal dominant trait, Biology, medicine.disease, medicine.disease_cause, Germline, 3. Good health, Malignant transformation, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, Cancer research, medicine, Chondrosarcoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bea0a25549c5076508e729f2aedf30c9
https://doi.org/10.1002/gcc.22419

المؤلفون: Abdelkader Heddar, Micheline Misrahi, Delphine Flatters, Philippe Dessen

المصدر: Molecular genetics and genomics : MGG. 294(6)

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Models, Molecular, Adolescent, Genetic counseling, Cell Cycle Proteins, Biology, Primary Ovarian Insufficiency, medicine.disease_cause, 01 natural sciences, White People, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Molecular Biology, Exome sequencing, Mutation, Cohesin, Nuclear Proteins, General Medicine, Phenotype, Human genetics, Establishment of sister chromatid cohesion, 030104 developmental biology, Female, 010606 plant biology & botany

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04c8045ee9b91c708be4bb673acc8ef
https://pubmed.ncbi.nlm.nih.gov/31363903

المؤلفون: Danielle Monniaux, Andres Salumets, Ilpo Huhtaniemi, Micheline Misrahi, Peter Wieacker, Outi Hovatta, Katarzyna Jarzabek, Juha S. Tapanainen, Antonio La Marca, Jenny A. Visser, Slawomir Wolczynski, Reiner A. Veitia, Luca Persani, Triin Laisk-Podar, Abdelkader Heddar, Gabriel Livera

المساهمون: Imperial College London, Nova Southeastern University (NSU), Karolinska Institutet [Stockholm], Università degli Studi di Modena e Reggio Emilia (UNIMORE), Institut National de la Santé et de la Recherche Médicale (INSERM), Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Milano [Milano] (UNIMI), Istituto Auxologico Italiano, Université Paris-Sud - Paris 11 (UP11), Polish Academy of Sciences (PAN), Competence Centre on Health Technologies, Partenaires INRAE, University of Tartu, University of Helsinki, Department of Obstetrics and Gynecology, University of Oulu-Institute of Clinical Medicine, Université Paris Diderot - Paris 7 (UPD7), Erasmus University Rotterdam, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Medical University of Bialystok, Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Trends in Endocrinology and Metabolism = Trends in Endocrinology & Metabolism
Trends in Endocrinology and Metabolism = Trends in Endocrinology & Metabolism, Elsevier, 2018, 29 (6), pp.400-419. ⟨10.1016/j.tem.2018.03.010⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, transfer-rna synthetase, fsh receptor, chromosomal instability, DNA repair, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], perrault syndrome, Biology, Primary Ovarian Insufficiency, in-vitro, hypergonadotropic hypogonadism, of-function mutations, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Humans, genetics, [INFO]Computer Science [cs], Fertility preservation, hearing-loss, Ovarian reserve, Exome, Gene, exome, in vitro activation of dormant follicles, meiosis genes, ovary, primary ovarian insufficiency, Genetic association, Genetics, follicle-stimulating-hormone, 030219 obstetrics & reproductive medicine, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, 3. Good health, Review article, Diabetes and Metabolism, 030104 developmental biology, Mutation, Female, primordial follicle, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea9a969d0a34041f8ca8ab600ccca29
https://hal.inrae.fr/hal-02628564