Francoise Denoyelle

Summary

Country: France

Publications

  1. doi request reprint Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
    Sandrine Marlin
    AP HP, Service de génétique clinique, Hopital Armand Trousseau, Paris, France
    Biochem Biophys Res Commun 394:737-42. 2010
  2. doi request reprint Canalplasty for congenital atresia of the external auditory canal
    F Denoyelle
    Service d ORL Pédiatrique et de Chirurgie Cervico Faciale, centre de référence des malformations ORL rares, Hopital Trousseau, 26, avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France Electronic address
    Eur Ann Otorhinolaryngol Head Neck Dis 130:349-51. 2013
  3. doi request reprint Role of Propranolol in the therapeutic strategy of infantile laryngotracheal hemangioma
    Francoise Denoyelle
    Armand Trousseau Children Hospital, Pediatric ENT Department, AP HP, 75012 Paris, France
    Int J Pediatr Otorhinolaryngol 73:1168-72. 2009
  4. doi request reprint Stapedectomy in children: causes and surgical results in 35 cases
    Francoise Denoyelle
    Service d ORL Pédiatrique, Hopital d Enfants Armand Trousseau, 26 Av du Dr Arnold Netter, 75012 Paris, France
    Arch Otolaryngol Head Neck Surg 136:1005-8. 2010
  5. ncbi request reprint SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 14:773-9. 2006
  6. ncbi request reprint GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
    Sandrine Marlin
    Unite de Genetique Medicale, INSERM U587, Hopital d Enfants Armand Trousseau, AP HP, Universite Paris VI, Paris, France
    Arch Otolaryngol Head Neck Surg 131:481-7. 2005
  7. ncbi request reprint Congenital stapes ankylosis: study of 28 cases and surgical results
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Laryngoscope 116:1153-7. 2006
  8. doi request reprint Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
    Laurence Jonard
    AP HP, Centre de Référence des Surdités Généttiques, Hopital Armand Trousseau, Paris, France
    Int J Pediatr Otorhinolaryngol 74:1049-53. 2010
  9. doi request reprint A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
    Delphine Feldmann
    Laboratoire de Biochimie, INSERM, U587, Centre de Référence des Surdités Génétiques, AP HP, Hopital Armand Trousseau, 26 avenue du Docteur Arnold Netter, 75012 Paris, France
    Eur J Med Genet 52:195-200. 2009
  10. ncbi request reprint Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis
    Delphine Feldmann
    Service de Biochimie et de Biologie Moléculaire, Hopital d Enfants Armand Trousseau, INSERM U587, AP HP, Paris, France
    Am J Med Genet A 127:263-7. 2004

Collaborators

Detail Information

Publications35

  1. doi request reprint Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
    Sandrine Marlin
    AP HP, Service de génétique clinique, Hopital Armand Trousseau, Paris, France
    Biochem Biophys Res Commun 394:737-42. 2010
    ..The deletion affects an amino acid that is conserved in mammalian otoferlin sequences and located in the calcium-binding domain C2F of the protein...
  2. doi request reprint Canalplasty for congenital atresia of the external auditory canal
    F Denoyelle
    Service d ORL Pédiatrique et de Chirurgie Cervico Faciale, centre de référence des malformations ORL rares, Hopital Trousseau, 26, avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France Electronic address
    Eur Ann Otorhinolaryngol Head Neck Dis 130:349-51. 2013
    ..This stenting technique can be used for a shorter duration after tympanoplasty in children with behavioural disorders. ..
  3. doi request reprint Role of Propranolol in the therapeutic strategy of infantile laryngotracheal hemangioma
    Francoise Denoyelle
    Armand Trousseau Children Hospital, Pediatric ENT Department, AP HP, 75012 Paris, France
    Int J Pediatr Otorhinolaryngol 73:1168-72. 2009
    ..Propranolol appears to be an effective treatment for subglottic hemangiomas and should now be used as a first-line treatment in subglottic hemangiomas when intervention is required...
  4. doi request reprint Stapedectomy in children: causes and surgical results in 35 cases
    Francoise Denoyelle
    Service d ORL Pédiatrique, Hopital d Enfants Armand Trousseau, 26 Av du Dr Arnold Netter, 75012 Paris, France
    Arch Otolaryngol Head Neck Surg 136:1005-8. 2010
    ....
  5. ncbi request reprint SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 14:773-9. 2006
    ..SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population...
  6. ncbi request reprint GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
    Sandrine Marlin
    Unite de Genetique Medicale, INSERM U587, Hopital d Enfants Armand Trousseau, AP HP, Universite Paris VI, Paris, France
    Arch Otolaryngol Head Neck Surg 131:481-7. 2005
    ..To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1...
  7. ncbi request reprint Congenital stapes ankylosis: study of 28 cases and surgical results
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Laryngoscope 116:1153-7. 2006
    ..The objective of this study was to analyze functional results after stapes surgery in patients with congenital nonprogressive conductive deafness resulting from an isolated fixation of the stapes according to age and surgical procedure...
  8. doi request reprint Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
    Laurence Jonard
    AP HP, Centre de Référence des Surdités Généttiques, Hopital Armand Trousseau, Paris, France
    Int J Pediatr Otorhinolaryngol 74:1049-53. 2010
    ..To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia)...
  9. doi request reprint A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
    Delphine Feldmann
    Laboratoire de Biochimie, INSERM, U587, Centre de Référence des Surdités Génétiques, AP HP, Hopital Armand Trousseau, 26 avenue du Docteur Arnold Netter, 75012 Paris, France
    Eur J Med Genet 52:195-200. 2009
    ..The distal breakpoint inside intron 2 of CRYL1 gene differed from the breakpoints of the known DFNB1 deletions. This case highlights the importance of screening for large deletions in molecular studies of GJB2...
  10. ncbi request reprint Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis
    Delphine Feldmann
    Service de Biochimie et de Biologie Moléculaire, Hopital d Enfants Armand Trousseau, INSERM U587, AP HP, Paris, France
    Am J Med Genet A 127:263-7. 2004
    ..Biallelic GJB2 mutations and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children. Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss...
  11. ncbi request reprint Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor
    Elise Chapiro
    Service de Biochimie et de Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 10:851-6. 2002
    ..Our data suggest that this mtDNA mutation should be screened for in all cases of familial NSSNHL compatible with maternal transmission...
  12. doi request reprint Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion
    Isabelle Rouillon
    Service d Otorhinolaryngologie et de Chirurgie Cervico Faciale, Hopital d Enfants Armand Trousseau, APHP and UPMC Univ Paris 6, 26 Avenue Arnold Netter, 75571 Paris Cedex 12, France
    Arch Otolaryngol Head Neck Surg 135:652-6. 2009
    ..To evaluate the results of velopharyngoplasty for velopharyngeal insufficiency (VPI) in relation to 22q11 deletion or nonsyndromic VPI...
  13. doi request reprint Total ossiculoplasty in children: predictive factors and long-term follow-up
    Jérôme Nevoux
    Service d Oto rhino laryngologie Pédiatrique et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, University Pierre et Marie Curie, University Paris 6, 26 Ave du Dr Arnold Netter, Paris, France
    Arch Otolaryngol Head Neck Surg 137:1240-6. 2011
    ..To evaluate the long-term results and predictive factors of a good outcome with the use of a total ossicular replacement prosthesis in children...
  14. ncbi request reprint DFNA3
    Francoise Denoyelle
    Service d ORL Pédiatrique et de Chirurgie Cervicofaciale, AP HP et Université Paris VI, Hopital d Enfants Armand Trousseau, Paris, France
    Adv Otorhinolaryngol 61:47-52. 2002
  15. ncbi request reprint A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
    Laurence Jonard
    Laboratoire de Biochimie, INSERM U587, Centre de Référence des Surdités Génétiques, Hopital Armand Trousseau, AP HP, 24 av du Dr A Netter, Paris 75012, France
    Eur J Med Genet 51:35-43. 2008
    ..The unusual transmission of the disease observed in this family could be explained by the occurrence of a somatic or more probably a germinal mosaic in one of the parents...
  16. doi request reprint Discovery of a large deletion of KAL1 in 2 deaf brothers
    Sandrine Marlin
    Centre de Référence des Surdités Génétiques, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Service de Génétique médicale, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris INSERM UMRS1120 Département de génétique et d embryologie médicales, Inserm U933, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris Département de génétique clinique, CHU de Nantes Service d ORL pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Laboratoire de Génétique moléculaire, Hopital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris Institut de la Vision UPMC, Universite Pierre et Marie Curie, Paris 6 and Laboratoire de biochimie et biologie moléculaire, Hopital Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Otol Neurotol 34:1590-4. 2013
    ..Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family...
  17. doi request reprint Propranolol in the therapeutic strategy of infantile laryngotracheal hemangioma: A preliminary retrospective study of French experience
    Nicolas Leboulanger
    Hopital Armand Trousseau, 75012 Paris, France
    Int J Pediatr Otorhinolaryngol 74:1254-7. 2010
    ..Preliminary assessment of the efficacy of propranolol on subglottic hemangioma in children on a nation-wide scale...
  18. ncbi request reprint Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
    Marie France Portnoi
    Cytogenetics Laboratory, AP HP, Saint Antoine s Hospital, Pierre and Marie Curie University, Paris, France
    Clin Dysmorphol 16:247-52. 2007
    ..22. The boy and his mother had a smaller deletion (8 Mb), with a breakpoint in 18p11.23. These findings suggest that the distal region on 18p is involved in the main clinical features, and GH deficiency, in 18p deletions...
  19. doi request reprint Endoscopic surgical treatment of laryngotracheal clefts: indications and limitations
    Erea Noel Garabedian
    Service d Oto Rhino Laryngologie et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, 26 Av du Dr Netter, 75012 Paris, France
    Arch Otolaryngol Head Neck Surg 136:70-4. 2010
    ..To present the indications, techniques, results, and limitations of endoscopic surgical treatment of laryngotracheal cleft...
  20. ncbi request reprint New closed skin bone-anchored implant: preliminary results in 6 children with ear atresia
    Francoise Denoyelle
    Otolaryngology Head and Neck Surgery Department, Armand Trousseau Children Hospital, 26 avenue du Dr Arnold Netter, Paris, France
    Otol Neurotol 34:275-81. 2013
    ..To report preliminary results of a new closed-skin, transcutaneous bone conduction device (BCD) in 6 children with high-grade ear atresia...
  21. pmc Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
    Crystel Bonnet
    Unite de Genetique Medicale, INSERM UMRS 587, Hopital d Enfants Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 6:21. 2011
    ..Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool...
  22. doi request reprint [Subglottic hemangioma in the infant]
    E N Garabedian
    Service d ORL Pédiatrique, Hopital d Enfants Armand Trousseau, 26, 75012 Paris, France
    Ann Otolaryngol Chir Cervicofac 125:72-7. 2008
  23. doi request reprint Perrault syndrome: report of four new cases, review and exclusion of candidate genes
    Sandrine Marlin
    Hopital Trousseau, Service de Genetique, APHP, Paris, France
    Am J Med Genet A 146:661-4. 2008
    ..Moreover we excluded GJB2, POLG, and FOXL2 as candidate genes in Perrault syndrome...
  24. ncbi request reprint Congenital cholesteatoma: risk factors for residual disease and retraction pockets--a report on 117 cases
    Diane S Lazard
    Pediatric ENT Department, Hopital d Enfants Armand Trousseau, AP HP, Paris VI University, Paris, France
    Laryngoscope 117:634-7. 2007
    ..To define predictors of residuals and retraction pockets (RP) in children operated on for congenital cholesteatoma (CC)...
  25. doi request reprint Laser arytenoidectomy in the management of bilateral vocal cord paralysis in children
    Karine Aubry
    ENT Department, Children s Hospital Trousseau, 26 avenue Docteur Arnold Netter, 75012 Paris, France
    Int J Pediatr Otorhinolaryngol 74:451-5. 2010
    ..To analyse the efficacy of CO(2) laser arytenoidectomy in the management of bilateral vocal cord paralysis in children...
  26. doi request reprint Acquired subglottic cysts: management and long term outcome
    Caroline Halimi
    Otolaryngology Head and Neck Surgery Department, Armand Trousseau Children Hospital, Paris, France
    Int J Pediatr Otorhinolaryngol 76:589-92. 2012
    ..To assess the diagnostic strategy, treatment and outcome of acquired subglottic cysts...
  27. doi request reprint Autologous fat transfer in velopharyngeal insufficiency: indications and results of a 25 procedures series
    Nicolas Leboulanger
    Otolaryngology, Head and Neck Surgery Department, Armand Trousseau Children Hospital, Paris, France
    Int J Pediatr Otorhinolaryngol 75:1404-7. 2011
    ..To assess the efficiency of autologous fat transfer (AFT/Coleman procedure) in the management of velopharyngeal insufficiency (VPI)...
  28. doi request reprint Neonatal vs delayed-onset fourth branchial pouch anomalies: therapeutic implications
    Nicolas Leboulanger
    Universite Pierre et Marie Curie, Institut National de la Santé et de la Recherche Médicale U 587, and Department of Pediatric Otolaryngology Head and Neck Surgery, Armand Trousseau Children s Hospital, Assistance Publique Hopitaux de Paris, 75012 Paris, France
    Arch Otolaryngol Head Neck Surg 136:885-90. 2010
    ..To determine the presentation of third or fourth branchial pouch anomalies in various age groups of children and evaluate endoscopic cauterization as a treatment technique...
  29. doi request reprint Medical and surgical complications in pediatric cochlear implantation
    Natalie Loundon
    Service d Oto rhino laryngologie Pédiatrique et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, 26 avenue du Dr Arnold Netter, 75012 Paris, France
    Arch Otolaryngol Head Neck Surg 136:12-5. 2010
    ..To report complications of cochlear implantation (CI) in children and to analyze risk factors...
  30. doi request reprint Utility of radiofrequency ablation for haemorrhagic lingual lymphangioma
    Nicolas Leboulanger
    AP HP, Armand Trousseau Children Hospital, Pediatric ENT Department, Paris, France
    Int J Pediatr Otorhinolaryngol 72:953-8. 2008
    ..This technique did not induce progressive regrowth. It provides a new therapeutic tool for the treatment of lingual microcystic lymphangioma...
  31. doi request reprint Noninvasive positive-pressure ventilation avoids recannulation and facilitates early weaning from tracheotomy in children
    Brigitte Fauroux
    Pediatric Pulmonary, Hopital Armand Trousseau, Paris, France
    Pediatr Crit Care Med 11:31-7. 2010
    ..To show that noninvasive positive-pressure ventilation by means of a nasal mask may avoid recannulation after decannulation and facilitate early decannulation...
  32. doi request reprint Cartilage shield tympanoplasty in children: review of 268 consecutive cases
    Jérôme Nevoux
    UMPC, Univ Paris, France
    Arch Otolaryngol Head Neck Surg 137:24-9. 2011
    ..To assess the efficacy of partial ossicular chain reconstruction using autologous cartilage...
  33. ncbi request reprint Failures and complications of supraglottoplasty in children
    Francoise Denoyelle
    Services d Otorhinolaryngologie Pédiatrique et de Chirurgie Cervicofaciale, Hopital d Enfants Armand Trousseau, Paris, France
    Arch Otolaryngol Head Neck Surg 129:1077-80; discussion 1080. 2003
    ..To study the failures and complications of bilateral supraglottoplasty in children with severe laryngomalacia and to compare children with isolated laryngomalacia (IL) with those who have additional congenital anomalies (ACAs)...
  34. ncbi request reprint Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene
    Delphine Feldmann
    Service de Biochimie et de Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 12:279-84. 2004
    ..12%. All these data suggest that the M34T variant is not clinically significant in human and is a frequent polymorphism in France...
  35. ncbi request reprint Usher syndrome and cochlear implantation
    Natalie Loundon
    Service d Otorhinolaryngologie et de Chirurgie Cervico Faciale, Hopital d Enfants Armand Trousseau, Paris, France
    Otol Neurotol 24:216-21. 2003
    ..To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome...