The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome

Autor: Alicia F. Juriaans, Demi J. Trueba-Timmermans, Gerthe F. Kerkhof, Lionne N. Grootjen, Sylvia Walet, Theo C.J. Sas, Joost Rotteveel, Nitash Zwaveling-Soonawala, Annemarie A. Verrijn Stuart, Anita C.S. Hokken-Koelega

Publikováno v: Hormone Research in Paediatrics.

Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32.2 or an isolated methylation defect. Most patients with TS14 develop precocious puberty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf3916cf7a36a0ef75aff13366e59eb
https://doi.org/10.1159/000530420

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Autor: Alicia F. Juriaans, Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel, Anita C. S. Hokken-Koelega

Publikováno v: Journal of Clinical Medicine, 11(21):6289. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of clinical medicine, 11(21):6289. Multidisciplinary Digital Publishing Institute (MDPI)
Juriaans, A F, Kerkhof, G F, Mahabier, E F, Sas, T C J, Zwaveling-Soonawala, N, Touwslager, R N H, Rotteveel, J & Hokken-Koelega, A C S 2022, ' Temple Syndrome : Clinical Findings, Body Composition and Cognition in 15 Patients ', Clinical Chemistry, vol. 11, no. 21, 6289 . https://doi.org/10.3390/jcm11216289
Journal of Clinical Medicine; Volume 11; Issue 21; Pages: 6289
Clinical Chemistry, 11(21):6289

Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a73c4166a09113b7e7891911ede9805
https://pure.eur.nl/en/publications/a30c4368-4e2e-4e9d-aeec-0d4d3827b5b3

Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

Autor: Lionne N. Grootjen, Alicia F. Juriaans, Gerthe F. Kerkhof, Anita C. S. Hokken-Koelega

Publikováno v: Journal of Clinical Medicine; Volume 11; Issue 15; Pages: 4636
Journal of Clinical Medicine, 11(15):4636. Multidisciplinary Digital Publishing Institute (MDPI)

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal unipar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0f7c0a195e475fb5ef7a0260e39733

Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome

Autor: Laura C. G. de Graaff, Layla Damen, Janiëlle A E M van der Velden, Lionne N Grootjen, Stephany Donze, Anita C. S. Hokken-Koelega, Alicia F Juriaans

Publikováno v: Clinical Endocrinology, 93(4), 439-448. Wiley-Blackwell Publishing Ltd

Context: Growth hormone (GH) has been approved for children with Prader-Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d1c887b46e1e3464514529b214193a
https://pure.eur.nl/en/publications/ebfd9f96-c450-48b4-961c-8c248562017c