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Keywords: SHOX
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Journal Articles

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Gerdine A. Kamp, Wilma Oostdijk, on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (4): 223–240.
https://doi.org/10.1159/000499915
Published Online: 13 June 2019
... growth disorder warrants adequate further targeted testing. [email protected] Short stature Growth disorders Turner syndrome SHOX NPR2 IHH ACAN Microarray 24 02 2019 25 03 2019 13 6 2019 © 2019 The Author(s) Published by S. Karger AG, Basel 2019 Open Access...
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Journal Articles

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Julie Auger, Amandine Baptiste, Imane Benabbad, Gaëlle Thierry, Jean-Marc Costa, Mélanie Amouyal, Marie-Laure Kottler, Bruno Leheup, Renaud Touraine, Sébastien Schmitt, Marine Lebrun, Valérie Cormier Daire, Jean-Paul Bonnefont, Nicolas de Roux, Caroline Elie, Myriam Rosilio
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (5): 309–318.
https://doi.org/10.1159/000448282
Published Online: 28 September 2016
... of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. Methods: We performed a retrospective multicenter study on French subjects...
View article titled, Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
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Journal Articles

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

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Janina Caliebe, Sander Broekman, Merel Boogaard, Cathy A.J. Bosch, Claudia A.L. Ruivenkamp, Wilma Oostdijk, S.G. Kant, Gerhard Binder, Michael B. Ranke, Jan M. Wit, Monique Losekoot
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (4): 250–260.
https://doi.org/10.1159/000338341
Published Online: 09 May 2012
... analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). Methods: After selection with a modified scoring system for SHOX and a novel score for IGF1 and IGF1R defects, direct sequencing and multiplex ligation-dependent probe...
View article titled, IGF1, IGF1R and SHOX Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (Idiopathic Short Stature)
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Journal Articles

Hormones and Genes of Importance in Bone Physiology and Their Influence on Bone Mineralization and Growth in Turner Syndrome: A Summary of the Joint Symposium between the Bone, Growth Plate and Turner Syndrome Working Groups of the European Society for Paediatric Endocrinology

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Anenisia C. Andrade, Jeffrey Baron, Stavros C. Manolagas, Nick J. Shaw, Gudrun A. Rappold, Malcolm D.C. Donaldson, Emma Jane Gault, Lars Sävendahl
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2010) 73 (3): 161–165.
https://doi.org/10.1159/000284356
Published Online: 03 March 2010
... Endocrinol 2007;21:2605–2614. 12. Ogata T, Matsuo N, Nishimura G: SHOX haploinsufficiency and overdosage: impact of gonadal function status. J Med Genet 2001;38:1–6. 13. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children...
View article titled, Hormones and Genes of Importance in Bone Physiology and Their Influence on Bone Mineralization and Growth in Turner Syndrome: A Summary of the Joint Symposium between the Bone, Growth Plate and Turner Syndrome Working Groups of the European Society for Paediatric Endocrinology
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Journal Articles

SHOX in Short Stature Syndromes

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Rüdiger J. Blaschke, Gudrun A. Rappold
Journal: Hormone Research in Paediatrics
Hormone Research (2001) 55 (Suppl. 1): 21–23.
https://doi.org/10.1159/000063458
Published Online: 17 November 2004
... involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also...
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