Publications by authors named "Caroline Beugnet"

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Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Alejandra Daruich, Matthieu P Robert, Camille Leroy, Nathalie DE Vergnes, Caroline Beugnet

Am J Ophthalmol· May 2022

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New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.
Magali Colombat, Jean-Claude Aldigier, Pierre-Raphael Rothschild, Vincent Javaugue, Estelle Desport, Caroline Beugnet

Kidney Int· July 2020

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VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
Cyrille Garnier, Fatma Briki, Brigitte Nedelec, Patrick Le Pogamp, Ahmet Dogan, Caroline Beugnet

Blood· December 2017

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Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London

J Med Case Rep· August 2017

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Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Lucie Orhant, Olivia Anselem, Mélanie Fradin, Pierre Hadrien Becker, Caroline Beugnet

Prenat Diagn· May 2016

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When a mid-intronic variation of DMD gene creates an ESE site.
Madiha Trabelsi, Caroline Beugnet, Nathalie Deburgrave, Virgine Commere, Lucie Orhant

Neuromuscul Disord· December 2014

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Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Yoann Saillour, Mireille Cossée, France Leturcq, Aurélie Vasson, Caroline Beugnet

Hum Mutat· September 2008

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Revised spectrum of mutations in sarcoglycanopathies.
Madiha Trabelsi, Niloufar Kavian, Fatma Daoud, Virginie Commere, Nathalie Deburgrave, Caroline Beugnet

Eur J Hum Genet· July 2008

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