Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice
Ruel, Jérôme, Emery, Sarah, Nouvian, Régis, Bersot, Tiphaine, Amilhon, Bénédicte, Van Rybroek, Jana M., Rebillard, Guy, Lenoir, Marc, Eybalin, Michel, Delprat, Benjamin, Sivakumaran, Theru A., Giros, Bruno, El Mestikawy, Salah, Moser, Tobias, Smith, Richard J.H., Lesperance, Marci M., Puel, Jean-Luc
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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Journal Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgaard, Stefan, Lesperance, Marci M., Tranebjaerg, Lisbeth
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder
Quesnel, Alicia M, Nadol, Jr, Joseph B, Nielsen, G Petur, Curtin, Hugh D, Lesperance, Marci M
Published in Otology & neurotology (01.12.2015)
Published in Otology & neurotology (01.12.2015)
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Journal Article
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1
Surel, Clément, Guillet, Marie, Lenoir, Marc, Bourien, Jérôme, Sendin, Gaston, Joly, Willy, Delprat, Benjamin, Lesperance, Marci M, Puel, Jean-Luc, Nouvian, Régis
Published in eNeuro (01.11.2016)
Published in eNeuro (01.11.2016)
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Journal Article
Tracheotomy in very low birth weight neonates: indications and outcomes
Sisk, Elizabeth A, Kim, Theresa B, Schumacher, Robert, Dechert, Ronald, Driver, Lynn, Ramsey, Ann Marie, Lesperance, Marci M
Published in The Laryngoscope (01.06.2006)
Published in The Laryngoscope (01.06.2006)
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Journal Article
Commentary on “Occupational Noise, Smoking and a High Body Mass Index are Risk Factors for Age-Related Hearing Impairment and Moderate Alcohol Consumption is Protective: a European Population-Based Multicentre Study” by Fransen et al., J. Assoc. Res. Otolaryngol. DOI 10.1007/s10162-008-0123-1
Lesperance, Marci M., Burmeister, Margit
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
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Journal Article
Clinical characterization of novel chromosome 22q13 microdeletions
Ha, Jennifer F, Ahmad, Ayesha, Lesperance, Marci M
Published in International journal of pediatric otorhinolaryngology (01.04.2017)
Published in International journal of pediatric otorhinolaryngology (01.04.2017)
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Journal Article
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells
Starr, Arnold, Isaacson, Brandon, Michalewski, Henry J, Zeng, Fan-Gang, Kong, Ying-Yee, Beale, Paula, Paulson, George W, Keats, Bronya J B, Lesperance, Marci M
Published in Journal of the Association for Research in Otolaryngology (01.12.2004)
Published in Journal of the Association for Research in Otolaryngology (01.12.2004)
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Journal Article
“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss
Lesperance, Marci M., Winkler, Erin, Melendez, Tori L., Yashar, Beverly M.
Published in Journal of genetic counseling (01.06.2018)
Published in Journal of genetic counseling (01.06.2018)
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Journal Article
Novel DICER1 mutation as cause of multinodular goiter in children
Darrat, Ilaaf, Bedoyan, Jirair K., Chen, Ming, Schuette, Jane L., Lesperance, Marci M., Irish, Jonathan
Published in Head & neck (01.12.2013)
Published in Head & neck (01.12.2013)
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Validity, discriminative ability, and reliability of the hearing-related quality of life questionnaire for adolescents
Rachakonda, Tara, Jeffe, Donna B, Shin, Jennifer J, Mankarious, Leila, Fanning, Robert J, Lesperance, Marci M, Lieu, Judith E C
Published in The Laryngoscope (01.02.2014)
Published in The Laryngoscope (01.02.2014)
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Journal Article
Infantile Frey's syndrome
Tillman, Brittny N, Lesperance, Marci M, Brinkmeier, Jennifer V
Published in International journal of pediatric otorhinolaryngology (01.06.2015)
Published in International journal of pediatric otorhinolaryngology (01.06.2015)
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Journal Article
Residual Thyroid Tissue After Thyroidectomy in a Patient With TSH Receptor-Activating Mutation Presenting as a Neck Mass
Singer, Kanakadurga, Menon, Ram K, Lesperance, Marci M, McHugh, Jonathan B, Gebarski, Stephen S, Avram, Anca M
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
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Journal Article
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
Cryns, Kim, Sivakumaran, Theru A., Van den Ouweland, Jody M.W., Pennings, Ronald J.E., Cremers, Cor W.R.J., Flothmann, Kris, Young, Terry-Lynn, Smith, Richard J.H., Lesperance, Marci M., Camp, Guy Van
Published in Human mutation (01.10.2003)
Published in Human mutation (01.10.2003)
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