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1. Full Text SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
by Albert, Sébastien and Blons, Hélène and Jonard, Laurence and Feldmann, Delphine and Chauvin, Pierre and Loundon, Nathalie and Sergent-Allaoui, Annie and Houang, Muriel and Joannard, Alain and Schmerber, Sébastien and Delobel, Bruno and Leman, Jacques and Journel, Hubert and Catros, Hélène and Dollfus, Hélène and Eliot, Marie-Madeleine and David, Albert and Calais, Catherine and Drouin-Garraud, Valérie and Obstoy, Marie-Françoise and Tran Ba Huy, Patrice and Lacombe, Didier and Duriez, Françoise and Francannet, Christine and Bitoun, Pierre and Petit, Christine and Garabédian, Eréa-Noël and Couderc, Rémy and Marlin, Sandrine and Denoyelle, Françoise
European Journal of Human Genetics, ISSN 1018-4813, 06/2006, Volume 14, Issue 6, pp. 773 - 779
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations... 
Deafness | DFNB4 | EVA | SLC26A4 | Pendred | PENDRED-SYNDROME | pendred | BIOCHEMISTRY & MOLECULAR BIOLOGY | EAR | GENETICS & HEREDITY | PREVALENCE | deafness | COMPUTED-TOMOGRAPHY | PDS MUTATIONS | Deafness - genetics | Prevalence | Goiter - pathology | Humans | Child, Preschool | Infant | Male | Goiter - genetics | Vestibular Aqueduct - abnormalities | Membrane Transport Proteins - genetics | Adult | Female | Child | Connexins - genetics | Hearing Loss, Sensorineural - pathology | European Continental Ancestry Group | Hearing Loss, Sensorineural - genetics | Syndrome | Connexin 26 | Deafness - pathology | Homozygote | Adolescent | Alleles | Mutation | Deafness - congenital | Cohort Studies | Proteins | Pediatrics | Genetics | Ears & hearing | Whites | Vestibular system | Children | Hearing impairment | Hearing loss | Life Sciences | Neurons and Cognition | Neurobiology
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2. Full Text Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
by Luscan, Romain and Mechaussier, Sabrina and Paul, Antoine and Tian, Guoling and Gérard, Xavier and Defoort-Dellhemmes, Sabine and Loundon, Natalie and Audo, Isabelle and Bonnin, Sophie and LeGargasson, Jean-François and Dumont, Julien and Goudin, Nicolas and Garfa-Traoré, Meriem and Bras, Marc and Pouliet, Aurore and Bessières, Bettina and Boddaert, Nathalie and Sahel, José-Alain and Lyonnet, Stanislas and Kaplan, Josseline and Cowan, Nicholas J and Rozet, Jean-Michel and Marlin, Sandrine and Perrault, Isabelle
The American Journal of Human Genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 1006 - 1012
Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally... 
retino-cochlear tubulinopathy | early-onset sensorineural hearing loss | de novo mutations | dominant mutations | mosaicism | Leber congenital amaurosis | TUBB4B | abnormal dynamics of microtubule growth | EARLY INTERVENTION | MICROTUBULE | GENETICS & HEREDITY | PREFOLDIN | PROTEINS | HEARING | TUBULIN-SPECIFIC CHAPERONES | CHILDREN | Humans | Middle Aged | Cells, Cultured | Male | Tubulin - genetics | Leber Congenital Amaurosis - genetics | Binding Sites - genetics | Mutation, Missense - genetics | Whole Exome Sequencing | Microtubules - metabolism | Tubulin - metabolism | DNA Mutational Analysis | Microtubules - genetics | Photoreceptor Cells - metabolism | Adult | Female | Child | Report
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3. Full Text Cochlear implant magnet displacement during magnetic resonance imaging
by Deneuve, Sophie and Loundon, Nathalie and Leboulanger, Nicolas and Rouillon, Isabelle and Garabedian, Erea Noel
Otology and Neurotology, ISSN 1531-7129, 09/2008, Volume 29, Issue 6, pp. 789 - 790
Objective: Magnet displacement is a rare but possible complication in patients with cochlear implants. We report I case in a young child that occurred during... 
Cochlear implant | Complication | Magnetic resonance imaging | Child | Magnet | Displacement | complication | magnetic resonance imaging | cochlear implant | OTORHINOLARYNGOLOGY | displacement | magnet | CLINICAL NEUROLOGY | child | Foreign-Body Migration - etiology | Hearing Loss, Sensorineural - diagnosis | Humans | Magnetic Resonance Imaging - adverse effects | Foreign-Body Migration - surgery | Male | Cochlear Implants | Magnetics | Hearing Loss, Sensorineural - surgery
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4. Full Text Hearing Outcomes in Functional Surgery for Middle Ear Malformations
by Philippon, Daniel and Laflamme, Nathalie and Leboulanger, Nicolas and Loundon, Natalie and Rouillon, Isabelle and Garabedian, Erea-Noel and Denoyelle, Francoise
Otology & Neurotology, ISSN 1531-7129, 10/2013, Volume 34, Issue 8, pp. 1417 - 1420
OBJECTIVESTo standardize the information for families of children having functional surgery for middle ear malformations, we describe the audiometric results... 
pediatric otology | ossiculoplasty | congenital middle ear malformations | MOBILE STAPES | ANOMALIES | OTORHINOLARYNGOLOGY | CLINICAL NEUROLOGY | Ossicular Replacement - methods | Audiometry | Humans | Child, Preschool | Male | Treatment Outcome | Hearing Loss, Conductive - surgery | Auditory Threshold | Ear, Middle - abnormalities | Tympanoplasty | Adolescent | Female | Hearing Loss, Conductive - etiology | Child | Ear, Middle - surgery | Ossicular Prosthesis
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5. Genetic deafness in adults
by Marlin, Sandrine and Jonard, Laurence and Feldmann, Delphine and Loundon, Nathalie and Rouillon, Isabelle and Couderc, Rémy and Denoyelle, Françoise
La Revue du praticien, ISSN 0035-2640, 05/2009, Volume 59, Issue 5, p. 630
Deafness - genetics | Humans | Adult | Mutation | Deafness - classification
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6. Surdités de l'adulte d'origine génétique
by Marlin, Sandrine and Jonard, Laurence and Feldmann, Delphine and Loundon, Nathalie and Rouillon, Isabelle and Couderc, Rémy and Denoyelle, Françoise
Revue du Praticien, ISSN 0035-2640, 2009, Volume 59, Issue 5, pp. 630 - 631
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7. Full Text SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
by Albert, Sébastien and Blons, Hélène and Jonard, Laurence and Feldmann, Delphine and Chauvin, Pierre and Loundon, Nathalie and Sergent-Allaoui, Annie and Houang, Muriel and Joannard, Alain and Schmerber, Sébastien A and Delobel, Bruno and Leman, Jacques and Journel, Hubert and Catros, Hélène and Dollfus, Hélène and Eliot, Marie-Madeleine and David, Albert and Calais, Catherine and Drouin-Garraud, Valérie and Obstoy, Marie-Françoise and Tran Ba Huy, Patrice and Lacombe, Didier and Duriez, Françoise and Francannet, Christine and Bitoun, Pierre and Petit, Christine and Garabédian, Eréa-Noël and Couderc, Rémy and Marlin, Sandrine and Denoyelle, Françoise
European Journal of Human Genetics, ISSN 1018-4813, 06/2006, Volume 14, Issue 6, pp. 773 - 9
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations... 
Deafness | Prevalence | Humans | Child, Preschool | Infant | Male | European Continental Ancestry Group | Hearing Loss, Sensorineural | Life Sciences | Homozygote | Goiter | Membrane Transport Proteins | Adolescent | Alleles | Adult | Female | Santé publique et épidémiologie | Connexins | Mutation | Child | Cohort Studies
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8. Full Text Cochlear Implant Magnet Displacement During Magnetic Resonance Imaging
by Sophie Deneuve and Nathalie Loundon and Nicolas Leboulanger and Isabelle Rouillon and Erea Noel Garabedian and ENT Department-Hopital d'Enfants Armand Trousseau
Otology Japan, ISSN 0917-2025, 2010, Volume 20, Issue 2, pp. 140 - 140
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