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List of works by Darya Gorbenko del Blanco

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve

scientific article published on 19 June 2012

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

scientific article

Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model.

scientific article published on 25 September 2017

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

scientific article published in August 2006

Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome

scientific article

Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.

scientific article published on 16 May 2015

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay

scientific article published on 5 April 2012

Increased upper airway collapsibility in a mouse model of Marfan syndrome.

scientific article published on 23 December 2014

Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes

scientific article published on 29 July 2011

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

scientific article published on 08 January 2014

Single-nucleotide variants in two Hedgehog genes,SHHandHHIP, as genetic cause of combined pituitary hormone deficiency

scientific article published on 25 January 2013

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

scientific article published on 06 March 2017

Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome.

scientific article

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