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List of works by Brigitte Nedelec

A family with Wagner syndrome with uveitis and a new versican mutation

scientific article

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features ⬇️

scientific article published on June 22, 2011

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

scientific article published on 21 January 2016

De novo splice mutation in the versican gene in a family with Wagner syndrome

scientific article published in June 2013

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family

scientific article published in January 2006

Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin

scientific article

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

scientific article

Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies

scientific article published on 01 January 2001

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF) ⬇️

scientific article published on August 1, 1998

Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

scientific article

Upregulation of rat P23 (a member of the YjgF protein family) by fasting, glucose diet and fatty acid feeding.

scientific article

VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants

scientific article published on 31 October 2017

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

article

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