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: 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 (8118110), Sandrine Lemoine (2576143), Martin Kaufmann (2069674), Pierre Breton (11556592), Marie Nowoczyn (11556595), Céline Ballandonne (11556598), Nadia Coudray (11556601), Hervé Mittre (11556604), Nicolas Richard (9364984), Amélie Ryckwaert (11556607), Alinoe Lavillaureix (11556610), Glenville Jones (4503658), Justine Bacchetta (680216), Marie-Laure Kottler (274522)

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, hypersensitivity to vitamin D, calcitriol induced hypercalcemia, phosphate wasting diseases, vitamin D, CYP24A1- hydroxylase, SLC34A1 gene, SLC34A3 gene

Relation: https://figshare.com/articles/dataset/Table_1_Overlapping_Phenotypes_Associated_With_CYP24A1_SLC34A1_and_SLC34A3_Mutations_A_Cohort_Study_of_Patients_With_Hypersensitivity_to_Vitamin_D_xlsx/16801642

الاتاحة: https://doi.org/10.3389/fendo.2021.736240.s001

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: 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: 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: Arnaud Molin, Nicolas Richard, Harald Jüppner, Marie-Laure Kottler, Nadia Coudray, Pauline Rault-Guillaume

المصدر: The Journal of Clinical Endocrinology & Metabolism. 98:E1549-E1556

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Heterozygote, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), medicine.disease_cause, Progressive osseous heteroplasia, Biochemistry, Fetal Development, Endocrinology, Internal medicine, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, medicine, GNAS complex locus, Humans, Allele, Child, Alleles, Pseudohypoparathyroidism, Retrospective Studies, Genetics, Mutation, Fetal Growth Retardation, JCEM Online: Advances in Genetics, biology, Ossification, Heterotopic, Biochemistry (medical), Infant, Newborn, Infant, Skin Diseases, Genetic, Exons, medicine.disease, Bone Diseases, Metabolic, Child, Preschool, Infant, Small for Gestational Age, Pseudopseudohypoparathyroidism, biology.protein, Severe intrauterine growth retardation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef053d512c1ff5a00532f73f76a704b
https://doi.org/10.1210/jc.2013-1667

المؤلفون: P. Eckart, Georges Deschênes, Glenville Jones, Justine Bacchetta, Martin Kaufmann, M. Wraich, Nicolas Richard, Arnaud Molin, Amélie Ryckewaert, Jean-Claude Souberbielle, Marie-Christine Vantyghem, R. Baudoin, Q. Bonafiglia, Nadia Coudray, A. Tiulpakov, G. Kesler-Roussey, Marie-Laure Kottler

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), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon

المصدر: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (10), pp.E1343-E1352. ⟨10.1210/jc.2014-4387⟩

مصطلحات موضوعية: Male, 24,25-Dihydroxyvitamin D 3, Endocrinology, Diabetes and Metabolism, Metabolite, Clinical Biochemistry, 030232 urology & nephrology, Parathyroid hormone, medicine.disease_cause, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Tandem Mass Spectrometry, Vitamin D, Child, Vitamin D3 24-Hydroxylase, ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, Mutation, Middle Aged, 3. Good health, Parathyroid Hormone, Child, Preschool, Female, Adult, medicine.medical_specialty, Adolescent, chemistry.chemical_element, 030209 endocrinology & metabolism, Context (language use), Calcium, 03 medical and health sciences, Young Adult, CYP24A1, Internal medicine, medicine, Vitamin D and neurology, Humans, Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Biochemistry (medical), Infant, Newborn, Infant, Heterozygote advantage, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Hypercalcemia, business, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a5bce73fae82915126d47f666346ac
https://pubmed.ncbi.nlm.nih.gov/26214117

المؤلفون: Nicolas Gruchy, Genevieve Abeguile, Marie-Laure Kottler, Hervé Mittre, Nadia Coudray, Joris Andrieux, Pascal Cathebras, Nicolas Richard

المصدر: The Journal of clinical endocrinology and metabolism. 97(5)

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biology, Biochemistry, Genomic Imprinting, Endocrinology, Internal medicine, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Allele, Pseudohypoparathyroidism, Alleles, Genetics, Comparative Genomic Hybridization, Biochemistry (medical), Methylation, DNA Methylation, Middle Aged, medicine.disease, Molecular biology, Pedigree, Differentially methylated regions, DNA methylation, biology.protein, STX16, Female, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb51449d90ead21f8caee7268b2eb7a
https://pubmed.ncbi.nlm.nih.gov/22378814