IGF1, IGF1R and SHOX Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (Idiopathic Short Stature)

Autor: Monique Losekoot, Gerhard Binder, Janina Caliebe, Sander J. Broekman, Michael B. Ranke, Wilma Oostdijk, S.G. Kant, Merel W. Boogaard, Cathy A.J. Bosch, Jan M. Wit, Claudia A. L. Ruivenkamp

Publikováno v: Hormone Research in Paediatrics. 77:250-260

Background/Aims: Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). Methods: Af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f83185afadb7c79b370982daeaf1b8f
https://doi.org/10.1159/000338341

Network of European Studies of Genes in Growth (NESTEGG)

Autor: Linda Fryklund, Martin O. Savage, Maithé Tauber, Anita Hokken Koelega, Janina Caliebe, Adrian J. L. Clark, Michael B. Ranke, Catherine Molinas, L.B. Johnston, Wietske A. Ester, Hartmut A. Wollmann

Publikováno v: Hormone Research, 71(suppl 2), 48-54. Karger

The network of European studies of genes in growth (NESTEGG) is an international growth genomics project, focusing on the birth size phenotypes of small for gestational age (SGA) and idiopathic short stature. Seven hundred controls and 1,275 cases wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b366e00d0dc9bc5b41cd66c467e6a1c4
https://doi.org/10.1159/000192436

Copy Number Variants in Short Children Born Small for Gestational Age

Autor: Hermine A. van Duyvenvoorde, Martijn H. Breuning, Janina Caliebe, Wilma Oostdijk, Monique Losekoot, Claudia A. L. Ruivenkamp, Michael B. Ranke, Gerhard Binder, Jan M. Wit, Antoinet C.J. Gijsbers, Egbert Bakker, Jeffrey Baron, Julian C. Lui, Cathy A.J. Bosch, Jan B. van Klinken

Publikováno v: Hormone Research in Paediatrics, 82(5), 310-318

Background/Aims: In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. Methods: Genome-wide analysis for copy number variants (CNVs), using single n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053654e37906427ee2d0cffe0d0b45e0
http://hdl.handle.net/1887/104312

The Use of Bone Age in Clinical Practice - Part 1

Autor: Daniela Kiepe, David D. Martin, Janina Caliebe, Kerstin Albertsson-Wikland, Zeev Hochberg, Hans Henrik Thodberg, Noel Cameron, Lars Sävendahl, Gerhard Binder, Jan M. Wit, Michael B. Ranke, Thomas Hertel, Rick R. van Rijn, Oliver Fricke

Publikováno v: Hormone Research in Paediatrics, 76(1), 1-9
Martin, D D, Caliebe, J, Binder, G S, Ranke, M B, Fricke, O, Kiepe, D, Wit, J, Van Rijn, R R, Hochberg, Z, Sävendahl, L, Albertsson-Wikland, K, Cameron, N, Hertel, N T & Thodberg, H H 2011, ' The use of bone age in clinical practice-Part 1 ', Hormone Research in Paediatrics, vol. 76, no. 1, pp. 1-9 . https://doi.org/10.1159/000329372

This review examines the role of skeletal maturity (‘bone age’, BA) assessment in clinical practice. BA is mainly used in children with the following conditions: short stature (addressed in part 1 of this review), tall stature, early or late pube

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ab8448fa0247e006358f88621cbf04
https://hdl.handle.net/1887/110102

The Auxological and Biochemical Continuum of Short Children Born Small for Gestational Age (SGA) or with Normal Birth Size (Idiopathic Short Stature)

Autor: Janina Caliebe, DavidD Martin, MichaelB Ranke, JanM Wit

Publikováno v: International Journal of Pediatric Endocrinology, Vol 2010, Iss 1, p 852967 (2010)

Objective. Retrospective single-centre analysis of growth characteristics in 182 healthy short children born small for gestational age (SGA) or appropriate for gestational age (idiopathic short stature, ISS). Methods. Birth size references from the U

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f527de538a240ad54da63c50faa4ba06
https://doi.org/10.1186/1687-9856-2010-852967