المؤلفون: Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Marie-Laure Kottler

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: hypersensitivity to vitamin D, calcitriol induced hypercalcemia, phosphate wasting diseases, vitamin D, CYP24A1- hydroxylase, SLC34A1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.736240/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1aa029400b4e4ef987c1856815b470cc

المؤلفون: Emilie Deberles, Isabelle Durand, Hervé Mittre, Yves Reznik, Julia Morera

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:924-930

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e703a4b7fd0e8d110c3eb01a2a1b43e9
https://doi.org/10.1515/jpem-2021-0757

المؤلفون: Emilie, Deberles, Isabelle, Durand, Hervé, Mittre, Yves, Reznik, Julia, Morera

المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(7)

مصطلحات موضوعية: Male, Aromatase, Pregnancy, Gynecomastia, Humans, Female, Promoter Regions, Genetic, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c6346c6673efab98c649f754c287e2a3
https://pubmed.ncbi.nlm.nih.gov/35667691

المؤلفون: Marie-Laure Kottler, Matthieu Decamp, Nadia Coudray, Céline Ballandonne, Claire Bracquemart, Cindy Colson, Nicolas Gruchy, Hervé Mittre, Arnaud Molin, Harald Jüppner, Rieko Takatani, Nicolas Richard

المساهمون: Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Œstrogènes, reproduction, cancer (OeReCa), Chiba University Hospital, Endocrine Unit, Massachusetts General Hospital [Boston]

المصدر: BONE
BONE, Elsevier, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Chromosomes, Human, Pair 20, 030209 endocrinology & metabolism, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, GNAS complex locus, medicine, Humans, Epigenetics, Allele, Imprinting (psychology), Pseudohypoparathyroidism, Genetics, Methylation, Uniparental Disomy, medicine.disease, 030104 developmental biology, Differentially methylated regions, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Female, Chromosome 20

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6afc96617bc65fcfdadfc92856eb429e
https://doi.org/10.1016/j.bone.2019.03.023

المؤلفون: Arnaud Molin, Nicolas Gruchy, Sylvie Paulien, Hervé Mittre, Sophie Naudion, Justine Bacchetta, Nicolas Richard, Laurence Faivre, Marion Gérard, Elise Schaefer, Sylvie Odent, Sarah Snanoudj, Marie-Laure Kottler, Bénédicte Demeer, Nadia Coudray, Cindy Colson, Alice Goldenberg

المساهمون: Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Œstrogènes, reproduction, cancer (OeReCa), Service de Génétique Clinique [Hautepierre Strasbourg], Hôpital de Hautepierre [Strasbourg], Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Génétique Médicale du CHU de Bordeaux, Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN)

المصدر: Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩

مصطلحات موضوعية: 0301 basic medicine, Male, TRANSMISSION RATIO DISTORTION, Offspring, Endocrinology, Diabetes and Metabolism, Parenteral transmission, Population, PSEUDOHYPOPARATHYROIDISM, 030209 endocrinology & metabolism, medicine.disease_cause, 03 medical and health sciences, GNAS, 0302 clinical medicine, Genotype, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Orthopedics and Sports Medicine, Allele, education, Child, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Genetics, Mutation, education.field_of_study, [SDV.GEN]Life Sciences [q-bio]/Genetics, biology, POH, MUTATIONS, PPHP, PHP1A, medicine.disease, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Pseudopseudohypoparathyroidism, Female, Maternal Inheritance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df982f6d6a0d3f76074da646d62ba810
https://hal.archives-ouvertes.fr/hal-02434917

المؤلفون: Nicolas Richard, Martin Kaufmann, Arnaud Wiedemann, Marie-Laure Kottler, Arthur Sorlin, Nick Demers, François Feillet, Georges Weryha, Hervé Mittre, Nadia Coudray, Jérémy Do Cao, Genevieve Abeguile, Brigitte Dousset, Arnaud Molin, Laurent Mainard, Glenville Jones, Pierre Journeau

المصدر: Journal of Bone and Mineral Research. 32:1893-1899

مصطلحات موضوعية: 0301 basic medicine, Vitamin, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Rickets, medicine.disease_cause, vitamin D deficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, CYP24A1, Internal medicine, medicine, Vitamin D and neurology, Orthopedics and Sports Medicine, Mutation, business.industry, Alfacalcidol, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, chemistry, Calcifediol, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0775581cdc0b30beefd8e5fa144e0b72
https://doi.org/10.1002/jbmr.3181

المؤلفون: Antoine Leenhardt, Cindy Colson, Hervé Mittre, Adeline Busson, Yann Troadec, Isabelle Denjoy, Véronique Fressard

المساهمون: Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Œstrogènes, reproduction, cancer (OeReCa), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Service de cardiologie [CHU Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot, Sorbonne Paris Cité, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62 (7), pp.103648. ⟨10.1016/j.ejmg.2019.04.005⟩

مصطلحات موضوعية: MESH: Plakophilins, Timothy syndrome, c.1220A>C, 030204 cardiovascular system & hematology, medicine.disease_cause, PKP2, 0302 clinical medicine, Missense mutation, Genetics (clinical), Exome sequencing, MESH: Heterozygote, Genetics, 0303 health sciences, Mutation, MESH: Calcium Channels, L-Type, General Medicine, Phenotype, 3. Good health, Long QT Syndrome, CACNA1C, Female, Adult, Heterozygote, MESH: Mutation, Calcium Channels, L-Type, MESH: Autistic Disorder, Biology, MESH: Phenotype, QT interval, DNA sequencing, 03 medical and health sciences, medicine, Humans, Autistic Disorder, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Long QT Syndrome, Heterozygote advantage, MESH: Adult, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Syndactyly, Syndactyly, Timothy, Plakophilins, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1a6a5b4fa11da8a1a0492cd867db4c
https://hal.archives-ouvertes.fr/hal-02393710/document

المؤلفون: Nadia Coudray, Genevieve Abeguile, Mireille Castanet, Marie-Laure Kottler, Philippe Eckart, Arnaud Molin, Hervé Mittre, Nicolas Richard, Marie Nowoczyn, Celine Ballandone

المساهمون: Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Service de biochimie [CHU Caen], Œstrogènes, reproduction, cancer (OeReCa), Service de Pédiatrie Médicale [Caen], Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CCSD, Accord Elsevier, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Genetic counseling, 030232 urology & nephrology, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Genetic analysis, Infant, Newborn, Diseases, 03 medical and health sciences, 0302 clinical medicine, CYP24A1, Loss of Function Mutation, Genetics, medicine, Vitamin D and neurology, Humans, Hypercalciuria, Renal Insufficiency, Copy-number variation, Pathology, Molecular, Vitamin D, Child, Vitamin D3 24-Hydroxylase, Genetics (clinical), Sequence Deletion, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, Massive parallel sequencing, business.industry, Infant, General Medicine, medicine.disease, 3. Good health, Nephrocalcinosis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Hypercalcemia, Female, business, Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c7a9f2ffb10864fdffbb85c67534da
https://doi.org/10.1016/j.ejmg.2018.11.011

المؤلفون: Matthieu Decamp, Nicolas Richard, Guillaume Benoist, Hervé Mittre, Corinne Jeanne-Pasquier, Nathalie Leporrier, Nicolas Gruchy

المصدر: Prenatal Diagnosis. 32:383-388

مصطلحات موضوعية: Bacterial artificial chromosome, Amniotic fluid, Obstetrics and Gynecology, Karyotype, Prenatal diagnosis, Biology, Molecular biology, chemistry.chemical_compound, Cell-free fetal DNA, chemistry, Copy-number variation, Genetics (clinical), DNA, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a5b7876ad94aa14e2d4b8fed076f97b
https://doi.org/10.1002/pd.2861

المؤلفون: Hervé Mittre, J. Morera, A. Rod, M. Joubert, E. Deberles, Yves Reznik

المصدر: Annales d'Endocrinologie. 79:317

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41b59e04f36706fb3b24a9b3afa6e1f1
https://doi.org/10.1016/j.ando.2018.06.366