نتائج البحث - "Emeline Renard"

المساهمون: Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), SUNY Downstate Medical Center, State University of New York (SUNY), This work was financed by FHU ARRIMAGE and the French PIA project « Lorraine Universite d’Excellence », reference ANR-15-IDEX-04-LUE., IMPACT GEENAGE, ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: Biochimie
Biochimie, Elsevier, 2020, 173, pp.57-61. ⟨10.1016/j.biochi.2020.04.019⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Folate, medicine.medical_specialty, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Leucovorin, Administration, Oral, Pilot Projects, Biochemistry, Placebo group, law.invention, Autism Diagnostic Observation Schedule, 03 medical and health sciences, Folinic acid, Randomized controlled trial, Environmental risk, law, Internal medicine, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Folate receptor alpha autoantibodies (FRαAb), Child, Adverse effect, 030102 biochemistry & molecular biology, business.industry, Effet placebo, General Medicine, Autism spectrum disorders, medicine.disease, 3. Good health, 030104 developmental biology, Autism diagnostic observation schedule (ADOS), Autism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868fc4275d6a09d3db3c7b515f269a40Test
https://doi.org/10.1016/j.biochi.2020.04.019Test

6

Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome

المؤلفون: François Brezin, Georges Weryha, Magali Hernandez, Brigitte Dousset, Arnaud Wiedemann, François Feillet, Emeline Renard, Laetitia Lambert

المصدر: Calcified Tissue International. 104:355-363

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ebf0405d5e48cd7c870e8fd352b987Test
https://doi.org/10.1007/s00223-018-0505-2Test

7

Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)

المؤلفون: Jean-Louis Guéant, François Feillet, Arnaud Wiedemann, Emeline Renard, Georges Weryha, Arnaud Molin, Abderrahim Oussalah

المصدر: Calcified tissue international. 107(2)

مصطلحات موضوعية: 0301 basic medicine, Vitamin, Adult, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Rickets, Osteoarthritis, vitamin D deficiency, 03 medical and health sciences, chemistry.chemical_compound, Consanguinity, 0302 clinical medicine, Endocrinology, Bone Density, Internal medicine, medicine, Vitamin D and neurology, Humans, Orthopedics and Sports Medicine, Vitamin D, Cytochrome P450 Family 2, Bone mineral, business.industry, Genetic disorder, medicine.disease, medicine.anatomical_structure, chemistry, Hip bone, Cholestanetriol 26-Monooxygenase, 030101 anatomy & morphology, Familial Hypophosphatemic Rickets, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71d549d15421c7fc74799913a8839a6Test
https://pubmed.ncbi.nlm.nih.gov/32430692Test

8

Efficacy of low dose nitisinone in the management of alkaptonuria

المؤلفون: Jean-Louis Guéant, Alain Blum, Amerh Alqahtani, François Feillet, Natacha Sloboda, Marc Merten, Sophie Henn-Ménétré, Emeline Renard, Elise Jeannesson, Arnaud Wiedemann

المساهمون: Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Imagerie Guilloz [CHRU Nancy] (Service d'imagerie Guilloz), CCSD, Accord Elsevier

المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2019, 127, pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩
Molecular Genetics and Metabolism, Elsevier, 2019, 127 (3), pp.184-190. ⟨10.1016/j.ymgme.2019.06.006⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Nitisinone, Endocrinology, Diabetes and Metabolism, Urinary system, [SDV]Life Sciences [q-bio], Urology, 030105 genetics & heredity, Alkaptonuria, Biochemistry, Excretion, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Genetics, medicine, Humans, Homogentisic acid, Adverse effect, Molecular Biology, Homogentisate 1,2-dioxygenase, Dose-Response Relationship, Drug, Cyclohexanones, business.industry, medicine.disease, Diet, 3. Good health, Osteopenia, [SDV] Life Sciences [q-bio], chemistry, Child, Preschool, Nitrobenzoates, Tyrosine, Female, business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f43f42ccde797221fddf2b78d677ed7Test
https://hal.archives-ouvertes.fr/hal-03487728Test

9

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

المؤلفون: Olivier Klein, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez, Bruno Leheup, François Feillet, Thomas Josse, Jimmy Voirin, Céline Chéry, Abderrahim Oussalah, Pascal Perrin, Emeline Renard, Denise Tramoy

المساهمون: Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Département de pédiatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Chirurgie Pédiatrique [CHRU Nancy], IMPACT GEENAGE, ANR-15-IDEX-0004,LUE (ISITE),Lorraine Université d'Excellence(2016)

المصدر: Human Genetics
Human Genetics, Springer Verlag, 2019, 138 (7), pp.703-713. ⟨10.1007/s00439-019-02015-7⟩

مصطلحات موضوعية: Adult, Male, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, Adolescent, [SDV]Life Sciences [q-bio], [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Biology, Genome, 03 medical and health sciences, Young Adult, GLI3, Exome Sequencing, Genetics, medicine, Humans, Exome, Hedgehog Proteins, Neural Tube Defects, Sonic hedgehog, Child, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Vitamin B12, 030305 genetics & heredity, Neural tube, Hedgehog signaling pathway, Carbon, 3. Good health, Vitamin B 12, medicine.anatomical_structure, Child, Preschool, biology.protein, Female, Hedgehog Protein, Biomarkers, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b829f3ef059b8c83f2253212fdab43fTest
https://pubmed.ncbi.nlm.nih.gov/31139930Test

10

Absence d’ostéoporose chez 3 patients porteurs d’un déficit en CYP2R1 (25 hydroxylation de la vitamine D) malgré 17 ans sans traitement

المؤلفون: Emeline Renard, Marie-Laure Kottler, Georges Weryha, F. Feillet, A. Wiedemann, Lea Demarquet, A. Molin, Marc Klein

المصدر: Annales d'Endocrinologie. 79:419

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b6ee9bb9ed71d291efdb9c4bbe9ae48aTest
https://doi.org/10.1016/j.ando.2018.06.729Test

تنقيح النتائج