about
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansHereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulinTruncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophyA family with gastrointestinal amyloidosis associated with variant lysozyme.A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms.H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.Lysozyme amyloidosis: report of 4 cases and a review of the literature.A family with Wagner syndrome with uveitis and a new versican mutation.D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies.Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.[Letter on the article: "senile systemic amyloidosis: definition, diagnosis, why thinking about?"].De novo splice mutation in the versican gene in a family with Wagner syndrome.Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.[Proteomics, a new tool for an accurate typing of amyloidosis].Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.Recurrent hepatic hematoma due to familial lysozyme amyloidosis resolves with conservative managementDiagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin geneLes amyloses multisystémiques en 2007
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Sophie Valleix
@ast
Sophie Valleix
@en
Sophie Valleix
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Sophie Valleix
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Sophie Valleix
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type
label
Sophie Valleix
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Sophie Valleix
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Sophie Valleix
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Sophie Valleix
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Sophie Valleix
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prefLabel
Sophie Valleix
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Sophie Valleix
@en
Sophie Valleix
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Sophie Valleix
@nl
Sophie Valleix
@sl
P214
P1053
H-5048-2017
P106
P21
P213
0000 0003 5807 2456
P214
P31
P3829
P496
0000-0002-4812-7102
P735
P7859
viaf-205098899