المؤلفون: Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Hypercalcemia, Nephrolithiasis, Idiopathic infantile hypercalcemia, CYP24A1, SLC34A1, Vitamin D, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/06b454efb27349ce93b71675c67b5240Test

المؤلفون: Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, Ramona Stroescu

المصدر: Children, Vol 10, Iss 10, p 1701 (2023)

مصطلحات موضوعية: idiopathic infantile hypercalcemia, nephrocalcinosis, CYP24A1, SLC34A1, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/10/10/1701Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/761fe7bc89ad43b383a94b156e6867e3Test

المؤلفون: René St-Arnaud, Alice Arabian, Dila Kavame, Martin Kaufmann, Glenville Jones

المصدر: Nutrients; Volume 14; Issue 15; Pages: 3221

مصطلحات موضوعية: infantile hypercalcemia type 1, idiopathic infantile hypercalcemia, CYP24A1, 25-hydroxyvitamin D 24-hydroxylase, hypercalcemia, 24,25-dihydroxyvitamin D 3, fracture repair

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Micronutrients and Human Health; https://dx.doi.org/10.3390/nu14153221Test

الإتاحة: https://doi.org/10.3390/nu14153221Test

المؤلفون: Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin

المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Uniparental disomy of chromosome 20, Infantile hypercalcemia, CYP24A1, Silver-Russell-like syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/01ccaa0afe074cfb9d51e0a01c8dc7b5Test

المؤلفون: Verjans, Marcelien, Hindryckx, An, Rosier, Karen, Devriendt, Koen, Mekahli, Djalila, Bockenhauer, Detlef

المصدر: Pediatric Nephrology (2024) (In press).

مصطلحات موضوعية: Infantile hypercalcemia type 2, SLC34A1, NaPi2a, nephrocalcinosis, antenatal presentation, phosphate supplementation

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10193063Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10193063Test/

المؤلفون: O.O. Dobryk, N.S. Lukianenko, M.I. Dushar

المصدر: Počki, Vol 9, Iss 4, Pp 249-253 (2020)

مصطلحات موضوعية: idiopathic infantile hypercalcemia, hypervitaminosis d, mutations in the cyp24a1 gene, children, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://kidneys.zaslavsky.com.ua/article/view/218240Test; https://doaj.org/toc/2307-1257Test; https://doaj.org/toc/2307-1265Test

الوصول الحر: https://doaj.org/article/946a422e090e45a8b2e74150abeda6fdTest

المؤلفون: Stefan Pilz, Verena Theiler-Schwetz, Pawel Pludowski, Sieglinde Zelzer, Andreas Meinitzer, Spyridon N. Karras, Waldemar Misiorowski, Armin Zittermann, Winfried März, Christian Trummer

المصدر: Nutrients; Volume 14; Issue 12; Pages: 2518

مصطلحات موضوعية: vitamin D, CYP24A1, pregnancy, hypercalcemia, fertility, lactation, intoxication, supplementation, idiopathic infantile hypercalcemia

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/nu14122518Test

الإتاحة: https://doi.org/10.3390/nu14122518Test

المؤلفون: Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Borsari, Simona, Piaggi, Paolo, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

المساهمون: Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Borsari, Simona, Piaggi, Paolo, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

مصطلحات موضوعية: 25(OH)D3, FGF23, Hypercalcemia, Idiopathic Infantile Hypercalcemia, Vitamin D

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33249478; info:eu-repo/semantics/altIdentifier/wos/WOS:000757532400009; volume:106; issue:3; firstpage:708; lastpage:717; numberofpages:10; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; https://hdl.handle.net/11568/1060111Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102909796

الإتاحة: https://doi.org/10.1210/clinem/dgaa876Test
https://hdl.handle.net/11568/1060111Test

المؤلفون: Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire

المساهمون: Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte CHU-Necker (MARHEA), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU)

المصدر: ISSN: 1755-8166 ; Molecular Cytogenetics ; https://hal.sorbonne-universite.fr/hal-03228799Test ; Molecular Cytogenetics, 2021, 14 (1), ⟨10.1186/s13039-021-00543-4⟩.

مصطلحات موضوعية: Uniparental disomy of chromosome 20, Infantile hypercalcemia, CYP24A1, Silver-Russell-like syndrome, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33952337; hal-03228799; https://hal.sorbonne-universite.fr/hal-03228799Test; https://hal.sorbonne-universite.fr/hal-03228799/documentTest; https://hal.sorbonne-universite.fr/hal-03228799/file/s13039-021-00543-4.pdfTest; PUBMED: 33952337; PUBMEDCENTRAL: PMC8101107; WOS: 000647638000001

الإتاحة: https://doi.org/10.1186/s13039-021-00543-4Test
https://hal.sorbonne-universite.fr/hal-03228799Test
https://hal.sorbonne-universite.fr/hal-03228799/documentTest
https://hal.sorbonne-universite.fr/hal-03228799/file/s13039-021-00543-4.pdfTest

المؤلفون: Marguerite Hureaux (10752825), Sandra Chantot-Bastaraud (371303), Kévin Cassinari (10752828), Edouard Martinez Casado (10752831), Ariane Cuny (10752834), Thierry Frébourg (3212682), Rosa Vargas-Poussou (4036754), Anne-Claire Bréhin (275161)

مصطلحات موضوعية: Genetics, Uniparental disomy of chromosome 20, Infantile hypercalcemia, CYP24A1, Silver-Russell-like syndrome

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_When_a_maternal_heterozygous_mutation_of_the_CYP24A1_gene_leads_to_infantile_hypercalcemia_through_a_maternal_uniparental_disomy_of_chromosome_20/14544933Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14544933.v1Test