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S. Valleix · SciRah

Researcher profile · Semantic Scholar

S. Valleix

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S. Valleix — researcher profile on SciRah

h-index: 22
Works: 74
Citations: 1,963

Most-cited papers

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
S. Antonarakis, J. Rossiter, M. Young, J. Horst +62 more
1995Blood368 citations Open access
Semantic Scholar
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
S. Valleix, J. Gillmore, F. Bridoux, P. Mangione +22 more
2012New England Journal of Medicine180 citations Open access
Semantic Scholar
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.
S. Valleix, S. Drunat, J. Philit, D. Adoue +6 more
2002Kidney International122 citations Open access
Semantic Scholar
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
S. Valleix, F. Niel, B. Nedelec, M. Algros +4 more
2006American Journal of Human Genetics95 citations Open access
Semantic Scholar
Lysozyme Amyloidosis: Report of 4 Cases and a Review of the Literature
B. Granel, S. Valleix, J. Serratrice, P. Cherin +4 more
2006Medicine70 citations Open access
Semantic Scholar
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
A. Daruich, M. Duncan, M. Robert, N. Lagali +13 more
2022Progress in retinal and eye research63 citations Open access
Semantic Scholar
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
S. Valleix, G. Verona, N. Jourde-Chiche, B. Nedelec +23 more
2016Nature Communications60 citations Open access
Semantic Scholar
Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.
P. Dighiero, F. Niel, P. Ellies, F. D'Hermies +4 more
2001Ophthalmology (Rochester, Minn.)60 citations
Semantic Scholar
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.
P. Dighiero, S. Drunat, P. Ellies, F. D'Hermies +6 more
2000American journal of ophthalmology-glaucoma60 citations
Semantic Scholar
Clinical outcome of eight BIGH3-linked corneal dystrophies.
P. Ellies, G. Renard, S. Valleix, P. Boelle +1 more
2002Ophthalmology (Rochester, Minn.)58 citations
Semantic Scholar
Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation).
A. Rousseau, C. Terrada, S. Touhami, E. Barreau +8 more
2018American journal of ophthalmology-glaucoma52 citations
Semantic Scholar
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.
F. Niel, P. Ellies, P. Dighiero, J. Soria +5 more
2003Investigative Ophthalmology and Visual Science48 citations
Semantic Scholar
Recent developments in the management of congenital cataract
D. Bremond-Gignac, A. Daruich, M. Robert, S. Valleix
2020Annals of Translational Medicine47 citations Open access
Semantic Scholar
A Novel Variant of Granular Corneal Dystrophy Caused by Association of 2 Mutations in the TGFBI Gene—R124L and ΔT125-ΔE126
P. Dighiero, S. Drunat, F. D'Hermies, G. Renard +2 more
200045 citations Open access
Semantic Scholar
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.
Rémi Favier, J. Lavergne, J. Costa, C. Caron +4 more
2000Blood44 citations
Semantic Scholar
H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.
S. Valleix, B. Nedelec, F. Rigaudière, P. Dighiero +4 more
2006Investigative Ophthalmology and Visual Science38 citations Open access
Semantic Scholar
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
S. Valleix, C. Vinciguerra, J. Lavergne, Marco Leuer +2 more
2002Blood38 citations
Semantic Scholar
A family with gastrointestinal amyloidosis associated with variant lysozyme.
B. Granel, J. Serratrice, S. Valleix, G. Grateau +8 more
2002Gastroenterology37 citations
Semantic Scholar
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features
A. Brézin, B. Nedelec, A. Barjol, P. Rothschild +2 more
2011Molecular Vision34 citations
Semantic Scholar
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.
P. Dighiero, S. Drunat, F. D'Hermies, G. Renard +2 more
2000A M A Archives of Ophthalmology31 citations
Semantic Scholar
Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.
P. Dighiero, S. Valleix, F. D'Hermies, S. Drunat +6 more
2000Ophthalmology (Rochester, Minn.)28 citations
Semantic Scholar
A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms
E. Jean, M. Ebbo, S. Valleix, L. Benarous +9 more
2014BMC Gastroenterology25 citations Open access
Semantic Scholar
Mass spectrometry-based proteomics in clinical practice amyloid typing: state-of-the-art from a French nationwide cohort
M. Colombat, M. Gaspard, Mylène Camus, J. Dalloux-Chioccioli +23 more
2022Haematologica22 citations Open access
Semantic Scholar
A family with Wagner syndrome with uveitis and a new versican mutation
P. Rothschild, A. Brézin, B. Nedelec, Cyril Burin Des Roziers +4 more
2013Molecular Vision22 citations
Semantic Scholar
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Aurélie Vasson, C. Leroux, L. Orhant, Mathieu Boimard +15 more
2013European Journal of Human Genetics22 citations Open access
Semantic Scholar
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
R. Favier, J. Lavergne, Jean-marc Costa, C. Caron +4 more
200022 citations
Semantic Scholar
Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies
M. Jamet, V. Gnemmi, E. Hachulla, C. Dhaenens +13 more
2015American Journal of Surgical Pathology21 citations
Semantic Scholar
Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype.
A. Daruich, M. Robert, Camille Leroy, N. de Vergnes +4 more
2021American journal of ophthalmology-glaucoma20 citations Open access
Semantic Scholar
Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review
A. Benyamine, Fanny Bernard-Guervilly, C. Tummino, N. Macagno +3 more
2017Clinical Rheumatology19 citations
Semantic Scholar
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
C. Garnier, F. Briki, B. Nedelec, P. Le Pogamp +11 more
2017Blood18 citations Open access
Semantic Scholar
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
Florence Niel-Butschi, B. Kantelip, Justyna Iwaszkiewicz, V. Zoete +9 more
2011Molecular Vision18 citations
Semantic Scholar
New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.
M. Colombat, J. Aldigier, P. Rothschild, V. Javaugue +14 more
2020Kidney International17 citations Open access
Semantic Scholar
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease
Cyril Burin-des-Roziers, P. Rothschild, V. Layet, Jian-Min Chen +5 more
2017Human Mutation17 citations
Semantic Scholar
Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.
S. Valleix, J. Jeanny, S. Elsevier, R. L. Joshi +3 more
1999Human Molecular Genetics17 citations
Semantic Scholar
A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu441-Ala442 peptide bond in the V1 isoform is essential for interdigital web regression
Sumeda Nandadasa, Cyril Burin-des-Roziers, Christopher Koch, Karin Tran-Lundmark +4 more
2021Matrix Biology Plus16 citations Open access
Semantic Scholar
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.
P. Rothschild, Cyril Burin-des-Roziers, I. Audo, B. Nedelec +2 more
2015American journal of ophthalmology-glaucoma16 citations
Semantic Scholar
De novo splice mutation in the versican gene in a family with Wagner syndrome.
P. Rothschild, I. Audo, B. Nedelec, Tiffany Ghiotti +3 more
2013JAMA ophthalmology16 citations
Semantic Scholar
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.
B. Granel, J. Serratrice, P. Disdier, P. Weiller +3 more
2005American Journal of Medicine11 citations
Semantic Scholar
[Avellino dystrophy. Current diagnostic criteria].
P. Dighiero, P. Ellies, S. Valleix, F. D'Hermies +4 more
2000Journal Francais d'Ophtalmologie9 citations
Semantic Scholar
Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome
O. Xerri, F. Bernabei, E. Philippakis, Cyril Burin-des-Roziers +8 more
2021BMC Ophthalmology8 citations Open access
Semantic Scholar
Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.
Lara Meyer, M. Ulrich, D. Ducloux, V. Garrigue +23 more
2020American Journal of Kidney Diseases8 citations Open access
Semantic Scholar
Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family
N. Magy, S. Valleix, G. Grateau, M. Algros +4 more
2002Amyloid: Journal of Protein Folding Disorders7 citations
Semantic Scholar
Recurrent hepatic hematoma due to familial lysozyme amyloidosis resolves with conservative management
B. Granel, S. Valleix, Y. L. le Treut, R. Costello +5 more
2014Amyloid: Journal of Protein Folding Disorders6 citations
Semantic Scholar
Mass spectrometry-based proteomic analysis of parathyroid adenomas reveals PTH as a new human hormone-derived amyloid fibril protein
M. Colombat, B. Barres, C. Renaud, D. Ribes +8 more
2021Amyloid: Journal of Protein Folding Disorders5 citations
Semantic Scholar
LC‐MS/MS and immuno‐electron subtyping combined with genetics show that OSMR mutations cause amyloid deposition of keratins 5/14 in familial primary localized cutaneous amyloidosis
R. Bourguiba, C. Bachmeyer, P. Moguelet, S. Kaaki +6 more
2021Journal of the European Academy of Dermatology and Venereology5 citations
Semantic Scholar
Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report
B. Terrier, M. Colombat, C. Beugnet, Astrid Quéant +10 more
2017Journal of Medical Case Reports5 citations Open access
Semantic Scholar
Optical Coherence Tomography Angiography assessment in Congenital Aniridia.
A. Dentel, M. Ferrari, M. Robert, S. Valleix +2 more
2023American journal of ophthalmology-glaucoma4 citations Open access
Semantic Scholar
Prevalence, male germ-line origin and new patterns of inversions in haemophilia A.
S. Valleix, K. Nafa, N. Stieltjes, M. Viémont +3 more
1997Annales de Genetique4 citations
Semantic Scholar
[Implementation of a new gene therapy in ophthalmology: Regulatory and organizational issues].
A. Daruich, R. Boinet, C. Falcou, C. Cotteret +7 more
2021Journal Francais d'Ophtalmologie3 citations Open access
Semantic Scholar
Current use of peat, plastic and fertiliser inputs in organic horticultural and arable crops across Europe
A. Løes, N. Katsoulas, R. Cáceres, M. de Cara +9 more
20183 citations
Semantic Scholar

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