Docteur Catherine BLANCHET

Fonction

Praticien Hospitalier

Diplômes

DES d’ORL et Chirurgie Cervico Faciale

Formations

DIU d’ORL Pédiatrique

Publications

Découvrir sur PubMed

Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. Ophthalmology. 2016 Sep;123(9):1989-98. doi:
10.1016/j.ophtha.2016.05.036. Epub 2016 Jul 7. PubMed PMID: 27395765.
Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, Koenig M,
Claustres M, Roux AF. Whole USH2A Gene Sequencing Identifies Several New Deep
Intronic Mutations. Hum Mutat. 2016 Feb;37(2):184-93. doi: 10.1002/humu.22926.
Epub 2015 Nov 23. PubMed PMID: 26629787.
Thaller P, Blanchet C, Badr M, Mesnage R, Leboucq N, Mondain M, Cambonie G.
Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a
case report. BMC Pediatr. 2015 Jun 27;15:72. doi: 10.1186/s12887-015-0363-2.
PubMed PMID: 26112048; PubMed Central PMCID: PMC4491209.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D,
Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B,
Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip
N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P,
Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A,
Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S,
Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo
H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche
JL, Collet C. Treacher Collins syndrome: a clinical and molecular study based on
a large series of patients. Genet Med. 2016 Jan;18(1):49-56. doi:
10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686.
Szaskon, Kateline [corrected to Szakszon, Kateline]. PubMed PMID: 25790162.
Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G,
Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi
E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP. Neuroradiological findings
expand the phenotype of OPA1-related mitochondrial dysfunction. J Neurol Sci.
2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.
PubMed PMID: 25641387.
Venail F, Artaud JP, Blanchet C, Uziel A, Mondain M. Refining the audiological
assessment in children using narrow-band CE-Chirp-evoked auditory steady state
responses. Int J Audiol. 2015 Feb;54(2):106-13. doi:
10.3109/14992027.2014.935496. Epub 2014 Jul 18. PubMed PMID: 25036002.
Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugère V, Vaché C,
Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF. Enrichment of
LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum
and highlights missense hotspots. Hum Mutat. 2014 Oct;35(10):1179-86. doi:
10.1002/humu.22608. Epub 2014 Jul 15. PubMed PMID: 24944099.
Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E,
Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D. Large
deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher
Collins syndrome with intellectual disability. Eur J Hum Genet. 2014
Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22. PubMed PMID:
23695276; PubMed Central PMCID: PMC3865420.
Leruez S, Milea D, Defoort-Dhellemmes S, Colin E, Crochet M, Procaccio V,
Ferré M, Lamblin J, Drouin V, Vincent-Delorme C, Lenaers G, Hamel C, Blanchet C,
Juul G, Larsen M, Verny C, Reynier P, Amati-Bonneau P, Bonneau D. Sensorineural
hearing loss in OPA1-linked disorders. Brain. 2013 Jul;136(Pt 7):e236. doi:
10.1093/brain/aws340. Epub 2013 Feb 4. PubMed PMID: 23384603.
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M,
Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I,
Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I,
Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger
B, Blanchet C, Meunier I, Hamel CP. Relative frequencies of inherited retinal
dystrophies and optic neuropathies in Southern France: assessment of 21-year data
management. Ophthalmic Epidemiol. 2013;20(1):13-25. doi:
10.3109/09286586.2012.737890. PubMed PMID: 23350551.
Blanchet C, Maltais-Landry G, Maranger R. Variability in nitrogen content of
submerged aquatic vegetation: utility as an indicator of N dynamics within and
among lakes. Water Sci Technol. 2012;65(7):1151-7. doi: 10.2166/wst.2012.065.
PubMed PMID: 22437010.
Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S,
Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A,
Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF. Non-USH2A
mutations in USH2 patients. Hum Mutat. 2012 Mar;33(3):504-10. doi:
10.1002/humu.22004. Epub 2012 Jan 6. PubMed PMID: 22147658.
Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C,
Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF. Usher
syndrome type 2 caused by activation of an USH2A pseudoexon: implications for
diagnosis and therapy. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634.
Epub 2011 Nov 16. PubMed PMID: 22009552.
Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G,
Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP. Cataract as a
phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. Eur J
Ophthalmol. 2012 Mar-Apr;22(2):254-8. doi: 10.5301/EJO.2011.8370. PubMed PMID:
21623591.
Roux AF, Faugère V, Vaché C, Baux D, Besnard T, Léonard S, Blanchet C, Hamel
C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D,
Holder-Espinasse M, Ambrosetti U, Journel H, David A, Lina-Granade G, Malcolm S,
Claustres M. Four-year follow-up of diagnostic service in USH1 patients. Invest
Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869. PubMed
PMID: 21436283.
Harari A, Rozot V, Bellutti Enders F, Perreau M, Stalder JM, Nicod LP,
Cavassini M, Calandra T, Blanchet CL, Jaton K, Faouzi M, Day CL, Hanekom WA, Bart
PA, Pantaleo G. Dominant TNF-α+ Mycobacterium tuberculosis-specific CD4+ T cell
responses discriminate between latent infection and active disease. Nat Med. 2011
Mar;17(3):372-6. doi: 10.1038/nm.2299. Epub 2011 Feb 20. PubMed PMID: 21336285.
Blanchet C, Nicollas R, Bigorre M, Amedro P, Mondain M. Management of
infantile subglottic hemangioma: acebutolol or propranolol? Int J Pediatr
Otorhinolaryngol. 2010 Aug;74(8):959-61. doi: 10.1016/j.ijporl.2010.05.013. Epub
2010 Jun 16. PubMed PMID: 20557953.
Vaché C, Besnard T, Blanchet C, Baux D, Larrieu L, Faugère V, Mondain M,
Hamel C, Malcolm S, Claustres M, Roux AF. Nasal epithelial cells are a reliable
source to study splicing variants in Usher syndrome. Hum Mutat. 2010
Jun;31(6):734-41. doi: 10.1002/humu.21255. PubMed PMID: 20513143.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N,
Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P,
Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V,
Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A,
Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno
F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de
Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ,
Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S,
Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Phenotypic variability of patients
homozygous for the GJB2 mutation 35delG cannot be explained by the influence of
one major modifier gene. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi:
10.1038/ejhg.2008.201. Epub 2008 Nov 5. PubMed PMID: 18985073; PubMed Central
PMCID: PMC2883287.
Blanchet C, Pommie C, Mondain M, Berr C, Hillaire D, Puel JL. Pure-tone
threshold description of an elderly French screened population. Otol Neurotol.
2008 Jun;29(4):432-40. doi: 10.1097/MAO.0b013e3181719746. PubMed PMID: 18520580.
Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A,
Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres
M, Malcolm S, Roux AF. Molecular and in silico analyses of the full-length
isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum
Mutat. 2007 Aug;28(8):781-9. PubMed PMID: 17405132.