Search Results - "Muskett, Julie"

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy by Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Chae, Jae Jin, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Park, Yong Hwan, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L., Goldbach-Mansky, Raphaela, Griffith, Andrew J.

“…The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3…”
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Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation by Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Muskett, Julie A, Kim, H Jeffrey, Brewer, Carmen C, Griffith, Andrew J

“…OBJECTIVE:To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3…”
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Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4 by Rose, Jane, Muskett, Julie A., King, Kelly A., Zalewski, Christopher K., Chattaraj, Parna, Butman, John A., Kenna, Margaret A., Chien, Wade W., Brewer, Carmen C., Griffith, Andrew J.

“…Objectives/Hypothesis To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of…”
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A common SLC26A4 -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct by Chattaraj, Parna, Munjal, Tina, Honda, Keiji, Rendtorff, Nanna D, Ratay, Jessica S, Muskett, Julie A, Risso, Davide S, Roux, Isabelle, Gertz, E Michael, Schäffer, Alejandro A, Friedman, Thomas B, Morell, Robert J, Tranebjærg, Lisbeth, Griffith, Andrew J

“…Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding…”
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Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct by Zalewski, Chris K., Chien, Wade W., King, Kelly A., Muskett, Julie A., Baron, Rachel E., Butman, John A., Griffith, Andrew J., Brewer, Carmen C.

“…Objective Enlarged vestibular aqueduct (EVA) is the most common inner ear malformation. While a strong correlative relationship between EVA and hearing loss is…”
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Atypical patterns of segregation of familial enlargement of the vestibular aqueduct by Muskett, Julie A., Chattaraj, Parna, Heneghan, John F., Reimold, Fabian R., Shmukler, Boris E., Brewer, Carmen C., King, Kelly A., Zalewski, Christopher K., Shawker, Thomas H., Butman, John A., Kenna, Margaret A., Chien, Wade W., Alper, Seth L., Griffith, Andrew J.

“…Objectives/Hypothesis Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the…”
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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes by Schultz, Julie M, Bhatti, Rashid, Madeo, Anne C, Turriff, Amy, Muskett, Julie A, Zalewski, Christopher K, King, Kelly A, Ahmed, Zubair M, Riazuddin, Saima, Ahmad, Nazir, Hussain, Zawar, Qasim, Muhammad, Kahn, Shaheen N, Meltzer, Meira R, Liu, Xue Z, Munisamy, Murali, Ghosh, Manju, Rehm, Heidi L, Tsilou, Ekaterini T, Griffith, Andrew J, Zein, Wadih M, Brewer, Carmen C, Riazuddin, Sheikh, Friedman, Thomas B

“…Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular…”
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Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography by Zein, Wadih M, Falsini, Benedetto, Tsilou, Ekaterina T, Turriff, Amy E, Schultz, Julie M, Friedman, Thomas B, Brewer, Carmen C, Zalewski, Christopher K, King, Kelly A, Muskett, Julie A, Rehman, Atteeq U, Morell, Robert J, Griffith, Andrew J, Sieving, Paul A

“…Progressive decline of psychophysical cone-mediated measures has been reported in type 1 (USH1) and type 2 (USH2) Usher syndrome. Conventional cone…”
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Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct by Chattaraj, Parna, Reimold, Fabian R, Muskett, Julie A, Shmukler, Boris E, Chien, Wade W, Madeo, Anne C, Pryor, Shannon P, Zalewski, Christopher K, Butman, John A, Brewer, Carmen C, Kenna, Margaret A, Alper, Seth L, Griffith, Andrew J

“…Approximately one-half of all subjects with unilateral or bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) will have SLC26A4 gene…”
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Patient Care Situations Benefiting from Pharmacogenomic Testing by Mills, Rachel A., Eichmeyer, Jennifer N., Williams, Leah M., Muskett, Julie A., Schmidlen, Tara J., Maloney, Kristin A., Lemke, Amy A.

“…Purpose of Review Pharmacogenomics is an evolving area in precision medicine that aims to identify patients who have variable drug response, detect those at…”
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Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb by Muskett, Julie, Nimrichter, Sarah, Zori, Roberto, Wang, Zhenyuan

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eP138 - Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb by Muskett, Julie, Nimrichter, Sarah, Zori, Roberto, Wang, Zhenyuan

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Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome by Wafa, Talah T., Faridi, Rabia, King, Kelly A., Zalewski, Christopher, Yousaf, Rizwan, Schultz, Julie M., Morell, Robert J., Muskett, Julie, Turriff, Amy, Tsilou, Ekaterini, Griffith, Andrew J., Friedman, Thomas B., Zein, Wadih M., Brewer, Carmen C.

“…Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not…”
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SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct by Ito, Taku, Choi, Byung Yoon, King, Kelly A., Zalewski, Christopher K., Muskett, Julie, Chattaraj, Parna, Shawker, Thomas, Reynolds, James C., Butman, John A., Brewer, Carmen C., Wangemann, Philine, Alper, Seth L., Griffith, Andrew J.

“…Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred…”
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Atypical patterns of segregation of familial enlargement of the vestibular aqueduct: Segregation of Familial EVA by Muskett, Julie A., Chattaraj, Parna, Heneghan, John F., Reimold, Fabian R., Shmukler, Boris E., Brewer, Carmen C., King, Kelly A., Zalewski, Christopher K., Shawker, Thomas H., Butman, John A., Kenna, Margaret A., Chien, Wade W., Alper, Seth L., Griffith, Andrew J.

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Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct by Chien, Wade W., Zalewski, Chris K., King, Kelly A., Muskett, Julie A., Butman, John A., Brewer, Carmen C., Griffith, Andrew J.

“…Objectives: Enlarged vestibular aqueduct (EVA) is the most common inner ear malformation. While a strong correlative relationship between EVA and hearing loss…”
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Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography by Zein, W. M., Falsini, B., Tsilou, E. T., Turriff, A. E., Schultz, J. M., Friedman, T. B., Brewer, C. C., Zalewski, C. K., King, K. A., Muskett, J. A., Rehman, A. U., Morell, R. J., Griffith, A. J., Sieving, P. A.

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Hereditary hearing loss with thyroid abnormalities by Choi, Byung Yoon, Muskett, Julie, King, Kelly A, Zalewski, Christopher K, Shawker, Thomas, Reynolds, James C, Butman, John A, Brewer, Carmen C, Stewart, Andrew K, Alper, Seth L, Griffith, Andrew J

“…Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is…”
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