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List of works by Valeria Cinquina

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

scientific article published on 9 October 2017

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

scientific article published on 21 February 2018

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

scientific article published on 03 November 2019

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

scientific article published on 22 November 2017

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

scientific article published on 25 October 2019

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

scientific article published on 21 May 2019

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

scientific article published on 14 October 2016

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome

article

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

scientific article published on 04 December 2020

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

scientific article published on 7 September 2017

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

scientific article published on 21 August 2019

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

scientific article

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

scientific article published on 28 September 2019

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing

scientific article published on 28 July 2020

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