List of works by Fabiana D'Esposito

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

scientific article published on 01 December 2018

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

scientific article (publication date: April 2002)

Clinical and surgical data of affected members of a classic CFEOM I family

scientific article

Congenital mono-ophthalmia syndrome

scientific article published on 01 January 1995

Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

scientific article published on 31 December 2020

High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice

scientific article published on 01 February 1998

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant

scientific article published on 03 August 2018

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

scientific article published on 13 June 2019

Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

scientific article published on 30 September 2019

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

scientific article published on 01 October 2019

Pericentral pigmentary retinopathy: long-term follow-up

scientific article published on 03 February 2006

Subfoveal choroidal blood flow and central retinal function in retinitis pigmentosa.

scientific article

Transforming growth factor-beta1, -beta2, and -beta3 in vivo: effects on normal and mitomycin C-modulated conjunctival scarring

scientific article published on 01 August 1999

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