Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Susanne E. Stalman"'
Autor:
Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundHeterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of additional clinic
Externí odkaz:
https://doaj.org/article/292e3478993f4c9b917691aa86c27551
Autor:
Jan M. Wit, Stephany H Donze, Susanne E. Stalman, Wilma Oostdijk, Gerdine A Kamp, Sjoerd D. Joustra, S.G. Kant, Christiaan de Bruin, Monique Losekoot
Publikováno v:
Hormone Research in Paediatrics, 92(6), 372-381. Karger
Hormone Research in Paediatrics, 92(6), 372-381. KARGER
Hormone Research in Paediatrics, 92(6), 372-381. KARGER
Introduction: Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with short stature, Madelung deformity and mesomelia. Current clinical screening tools are based on patients with intragenic variants or deletions. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d35b918af20c4c3cd46bfe1ed2cb61f
https://pure.eur.nl/en/publications/42ed0af8-7d2d-451d-8021-b06b5e7d09a6
https://pure.eur.nl/en/publications/42ed0af8-7d2d-451d-8021-b06b5e7d09a6
Autor:
Joris A. M. van der Post, Charalambos Demetriou, Adi N Mul, Chela James, Faisal I. Rezwan, Emma Peskett, Susanne E Stalman, Frans B. Plötz, Nicole A Nibbering, Miho Ishida, Lia Knegt, Jan M. Wit, Carrie Ris-Stalpers, Lucas Alvizi, Cristina Alemán-Charlet, Marcel M.A.M. Mannens, Peter Henneman, Gudrun E. Moore, W. Baird, Philip Stanier, Nita Solanky, Sayeda Abu-Amero, Marielle Alders, Lydia J. Leon, Gerdine A Kamp, Raoul C.M. Hennekam
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 103(3), 917-925
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Society
Context Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective The aim of the current study w
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Journal of clinical research in pediatric endocrinology, 7(4), 260-267. Galenos Yayincilik
Journal of clinical research in pediatric endocrinology, 7(4), 260-267. Galenos Yayincilik
Objective No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for tall stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referr
Publikováno v:
European Journal of Pediatrics. 175:347-354
The European Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a disease-specific instrument assessing quality of life (QoL) in children with short stature from the child and parent perspectives. In order to use the QoLISSY in Dutch s
Autor:
Raoul C.M. Hennekam, Yvonne M.C. Hendriks, Joost Rotteveel, Gerdine A Kamp, Susanne E. Stalman
Publikováno v:
Clinical endocrinology, 83(5), 671-676. Wiley-Blackwell
Stalman, S E, Kamp, G A, Hendriks, Y M C, Hennekam, R C M & Rotteveel, J 2015, ' Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14 ', Clinical Endocrinology, vol. 83, no. 5, pp. 671-676 . https://doi.org/10.1111/cen.12841
Clinical Endocrinology, 83(5), 671-676. Wiley-Blackwell
Stalman, S E, Kamp, G A, Hendriks, Y M C, Hennekam, R C M & Rotteveel, J 2015, ' Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14 ', Clinical Endocrinology, vol. 83, no. 5, pp. 671-676 . https://doi.org/10.1111/cen.12841
Clinical Endocrinology, 83(5), 671-676. Wiley-Blackwell
SummaryObjective Maternal uniparental disomy of chromosome 14 (matUPD(14)) resembles Prader–Willi syndrome (PWS). As positive effects of growth hormone (GH) are observed in individuals with PWS, treatment with GH may be useful in individuals with m
Autor:
Keiko Aso, Ilaria Sani, Raoul C.M. Hennekam, Jan M. Wit, Silvia Einaudi, Yinya Li, Ulla Sankilampi, Yukiko Katagiri, Anita C. S. Hokken-Koelega, Patrizia Bruzzi, Malgorzata Wasniewska, Chengchen Zhang, Francesco Massart, Anders Kämpe, Satz Mengensatzproduktion, Régine P.M. Steegers-Theunissen, Assunta Albanese, Werner Druck Medien Ag, Sinian Pan, Mario Miccoli, Riikka E. Mäkitie, Paula van Dommelen, Mari Satoh, Ilse Hellinga, Frans B. Plötz, Min Zhang, Sheila Perez-Colon, Gerdine A Kamp, Daniela Briceno, Donald J. McMahon, Kristen M. Williams, Leo Dunkel, Shipra Bansal, Antti Saari, Outi Mäkitie, Silvano Bertelloni, Sharon E. Oberfield, Giampiero I. Baroncelli, Laura M Breij, Susanne E. Stalman, Vatcharapan Umpaichitra, Salvador Castells, Aviva B. Sopher
Publikováno v:
Hormone Research in Paediatrics. 84:I-V
Autor:
Gerdine A Kamp, Frans B. Plötz, Susanne E. Stalman, Jan M. Wit, Raoul C.M. Hennekam, Ilse Hellinga
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism, 29(4), 465-473
Journal of pediatric endocrinology & metabolism, 29(4), 465-473. Walter de Gruyter GmbH
Journal of pediatric endocrinology & metabolism, 29(4), 465-473. Walter de Gruyter GmbH
The aim of the study was to evaluate the etiology, the role of pubertal timing and most useful criteria for diagnostic workup in adolescents with growth failure.Adolescents (n=182) aged 10.0–18.0 years underwent a standardized diagnostic protocol.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197e78abd5e8f009547a6e0ce210ce1b
https://hdl.handle.net/1887/114234
https://hdl.handle.net/1887/114234
Autor:
Frans B. Plötz, Jan M. Wit, Paula van Dommelen, Ulla Sankilampi, Raoul C.M. Hennekam, Antti Saari, Gerdine A Kamp, Ilse Hellinga, Leo Dunkel, Susanne E. Stalman
Publikováno v:
Hormone research in pædiatrics, 84(6), 376. S. Karger AG
Hormone research in paediatrics, 84(6), 376-382. S. Karger AG
Hormone research in paediatrics, 84(6), 376-382. S. Karger AG
Aims: To evaluate three guidelines for selecting short children for diagnostic workup in a general pediatric clinic. Methods: All patients (n = 131) aged 3.00-9.99 years who were referred for growth failure to a general pediatric clinic were evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a334d9fee10e310d4df0eabb494c17
https://dspace.library.uu.nl/handle/1874/350335
https://dspace.library.uu.nl/handle/1874/350335
Autor:
Saskia, Tamminga, Susanne E, Stalman, Gerdine A, Kamp, Yvonne M C, Hendriks, A C Lia, Knegt, M W Mariet, Elting
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 159
Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity a