Phenotype-genotype correlation in a familial IGF1R microdeletion case

Autor: Lutgarde C.P. Govaerts, H.J. Eussen, R J Odink, S W K de Kort, Carine Wouters, Danielle Veenma, A. de Klein, Anita C. S. Hokken-Koelega

Publikováno v: Journal of Medical Genetics, 47, 492-498. BMJ Publishing Group

Background: IGF1R (Insulin-Like Growth Factor 1 Receptor) haploinsufficiency is a rare event causing difficulties in defining clear genotype-phenotype correlations, although short stature is its’ well-established hallmark. Several pure 15q26 monoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ac8d4b164b49114796792f14dcd4db
https://doi.org/10.1136/jmg.2009.070730

Thyroid function in short children born small-for-gestational age (SGA) before and during GH treatment

Autor: D.C.M. van der Kaay, Anita C. S. Hokken-Koelega, Ruben H. Willemsen, M. van Dijk, Theo J. Visser, S. W. K. de Kort

Publikováno v: Clinical Endocrinology, 69, 318-322. Wiley-Blackwell Publishing Ltd

Summary Context Disturbances in thyroid function have been described in small-for-gestational age (SGA) children but the influence of prematurity is unclear. In addition, the effect of GH treatment on thyroid function has not been studied in short SG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926087e9913b4aebb769bfe14c8600f6
https://doi.org/10.1111/j.1365-2265.2008.03195.x

X-linked mental retardation due to creatine transporter defect

Autor: S. W. K. de Kort, A. J. M. Hoogeboom, Gajja S. Salomons, M.S. van der Knaap, S. A. de Man, P.J.W. Pouwels, G. M. S. Mancini

Publikováno v: Tijdschrift voor Kindergeneeskunde, 74(5), 173-178. Bohn Stafleu van Loghum
De Kort, S W K, De Man, S A, Hoogeboom, A J M, Pouwels, P J W, Van Der Knaap, M S, Mancini, G M S & Salomons, G S 2006, ' X-gebonden mentale retardatie door creatine transporter defect ', Tijdschrift voor Kindergeneeskunde, vol. 74, no. 5, pp. 173-178 .

Twee jongens van 4 en 8 jaar oud bezochten de kinderarts in verband met psychomotore en ernstige taal-/spraakontwikkelingsachterstand. Tevens was sprake van groeiachterstand en een geringe spiermassa. In de urine werd een verhoogde creatine/creatinin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e50a4f986f15bb0a3d2ea49f561291c
https://research.vumc.nl/en/publications/c6d1f895-2820-4800-887c-df33ba9f6ada

A Phase 2 Study of PEGylated Recombinant Human Growth Hormone for 52 Weeks in Short Children Born Small for Gestational Age in China.

Autor: Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical School, Huazhong University of Science and Technology, Wuhan, China., Hou L; Department of Pediatrics, Tongji Hospital, Tongji Medical School, Huazhong University of Science and Technology, Wuhan, China., Zhong Y; Department of Child Health Care, Hunan Children's Hospital, Hunan, China., Zhao S; Department of Child Health Care, Hunan Children's Hospital, Hunan, China., Chen X; Department of Endocrinology, Children's Hospital, Capital Institute of Pediatrics, Beijing, China., Dong Q; Department of Endocrinology, Children's Hospital, Capital Institute of Pediatrics, Beijing, China., Du H; Department of Paediatrics, The First Hospital of Jilin University, Jilin, China., Lu H; Department of Paediatrics, The First Hospital of Jilin University, Jilin, China., Yang Y; Department of Endocrinology and Genetics, Jiangxi Provincial Children's Hospital, Jiangxi, China., Wu X; Department of Endocrinology and Genetics, Jiangxi Provincial Children's Hospital, Jiangxi, China., Luo F; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China., Chen R; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China., Xu Z; Department of Pediatrics, Wuxi Fourth People's Hospital, Affiliated Hospital of Jiangnan University, Jiangsu, China., Ma Y; Department of Pediatrics, Wuxi Fourth People's Hospital, Affiliated Hospital of Jiangnan University, Jiangsu, China., Song W; Department of Endocrinology, Children's Hospital of Shanxi, Women's Health Center of Shanxi, Shanxi, China., Feng M; Department of Endocrinology, Children's Hospital of Shanxi, Women's Health Center of Shanxi, Shanxi, China., Gu X; Department of Pediatric Endocrinology and Genetics, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Qiu W; Department of Pediatric Endocrinology and Genetics, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Publikováno v: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Nov 08. Date of Electronic Publication: 2024 Nov 08.

The Long-Term Effects of Prematurity and Intrauterine Growth Restriction on Cardiovascular, Renal, and Metabolic Function.

Autor: Chan, Patricia Y. L.¹ pchan@med.usyd.edu.au, Morris, Jonathan M.^1,2, Leslie, Garth I.³, Kelly, Patrick J.⁴, Gallery, Eileen D. M.^1,2,5

Publikováno v: International Journal of Pediatrics. 2010, p1-10. 10p. 6 Charts, 3 Graphs.