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2024
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX
European Journal of Human Genetics
2023
Identification of a second genetic alteration in patients withSHOXdeficiency individuals: a potential explanation for phenotype variability
European Journal of Endocrinology
2022
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis
Molecular Genetics & Genomic Medicine
2021
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
European Journal of Human Genetics
2020
Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies
PeerJ
2019
Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
Hormone Research in Paediatrics
2018
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
Scientific Reports
2017
Screening ofSHOXgene sequence variants in Saudi Arabian children with idiopathic short stature
Korean Journal of Pediatrics
2016
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature
European Journal of Endocrinology
2016
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis
Journal of Human Genetics
2015
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects
European Journal of Endocrinology
2014
Copy Number Variants in Short Children Born Small for Gestational Age
Hormone Research in Paediatrics
2013
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for <b><i>SHOX</i></b> Analysis
Hormone Research in Paediatrics
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