List of works - Sophie Valleix

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

scientific article

A family with gastrointestinal amyloidosis associated with variant lysozyme

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

A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms

scientific article

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

scientific article published on 23 January 2013

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

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

scientific article published on 26 September 2016

Diagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin gene

article

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies

scientific article published on August 2015

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations ⬇️

scientific article published on May 5, 2011

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

Les amyloses multisystémiques en 2007

scientific article published on 26 January 2007

Letter on the article: "senile systemic amyloidosis: definition, diagnosis, why thinking about?"

scientific article

Lysozyme amyloidosis: report of 4 cases and a review of the literature

scientific article

Proteomics, a new tool for an accurate typing of amyloidosis

scientific article published on 24 December 2014

Recurrent hepatic hematoma due to familial lysozyme amyloidosis resolves with conservative management

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

scientific article published in October 2002

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

scientific article

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family

scientific article

Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy

scientific article (publication date: July 2003)

Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

scientific article

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

scientific article published on 31 October 2017

List of works by Sophie Valleix

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

A family with gastrointestinal amyloidosis associated with variant lysozyme

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

A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

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

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

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Diagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin gene

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations ⬇️

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

Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin

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

Les amyloses multisystémiques en 2007

Letter on the article: "senile systemic amyloidosis: definition, diagnosis, why thinking about?"

Lysozyme amyloidosis: report of 4 cases and a review of the literature

Proteomics, a new tool for an accurate typing of amyloidosis

Recurrent hepatic hematoma due to familial lysozyme amyloidosis resolves with conservative management

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

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

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family

Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy

Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

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