Deepak Babu
Novara, Italy
Last Updated: 09/26/2026
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Found 12 publications
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Journal: Molecular genetics & genomic medicine
Published: November 16, 2020
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Journal: European journal of human genetics : EJHG
Published: January 14, 2020
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A.
Journal: Journal of thrombosis and haemostasis : JTH
Published: June 25, 2019
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Journal: Clinical endocrinology
Published: August 28, 2018
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Journal: BMC medical genomics
Published: January 29, 2018
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.
Journal: Pediatric research
Published: April 05, 2017
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.
Journal: Molecular cytogenetics
Published: September 28, 2016
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
Journal: Journal of nephrology
Published: November 23, 2015
Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.
Journal: Pediatric research
Published: May 04, 2015
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Journal: Clinical endocrinology
Published: February 16, 2015
Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.
Journal: Endocrinology
Published: March 19, 2014
Effects of growth hormone (GH) therapy withdrawal on glucose metabolism in not confirmed GH deficient adolescents at final height.
Journal: PloS one
Published: September 05, 2013
Showing 1-12 of 12
Last Updated: 09/26/2026