Pesquisa | Portal de Pesquisa da BVS

1.

Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.

Hufnagel, Robert B; Liang, Wendi; Duncan, Jacque L; Brewer, Carmen C; Audo, Isabelle; Ayala, Allison R; Branham, Kari; Cheetham, Janet K; Daiger, Stephen P; Durham, Todd A; Guan, Bin; Heon, Elise; Hoyng, Carel B; Iannaccone, Alessandro; Kay, Christine N; Michaelides, Michel; Pennesi, Mark E; Singh, Mandeep S; Ullah, Ehsan.

Hum Mutat ; 43(5): 613-624, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35266249

2.

Genetic hearing loss: the audiologist's perspective.

Brewer, Carmen C; King, Kelly A.

Hum Genet ; 141(3-4): 311-314, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-34480642

3.

The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear.

Le Prell, Colleen G; Brewer, Carmen C; Campbell, Kathleen C M.

J Acoust Soc Am ; 152(1): 470, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35931504

4.

Outcomes in Previously Healthy Cryptococcal Meningoencephalitis Patients Treated With Pulse Taper Corticosteroids for Post-infectious Inflammatory Syndrome.

Anjum, Seher; Dean, Owen; Kosa, Peter; Magone, M Teresa; King, Kelly A; Fitzgibbon, Edmond; Kim, H Jeff; Zalewski, Chris; Murphy, Elizabeth; Billioux, Bridgette Jeanne; Chisholm, Jennifer; Brewer, Carmen C; Krieger, Chantal; Elsegeiny, Waleed; Scott, Terri L; Wang, Jing; Hunsberger, Sally; Bennett, John E; Nath, Avindra; Marr, Kieren A; Bielekova, Bibiana; Wendler, David; Hammoud, Dima A; Williamson, Peter.

Clin Infect Dis ; 73(9): e2789-e2798, 2021 11 02.

Artigo em Inglês | MEDLINE | ID: mdl-33383587

5.

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

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.

Clin Genet ; 99(2): 226-235, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33089500

6.

Auditory phenotype of Smith-Lemli-Opitz syndrome.

Zalewski, Christopher K; Sydlowski, Sarah A; King, Kelly A; Bianconi, Simona; Dang Do, An; Porter, Forbes D; Brewer, Carmen C.

Am J Med Genet A ; 185(4): 1131-1141, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33529473

7.

Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).

Iannaccone, Alessandro; Brewer, Carmen C; Cheng, Peiyao; Duncan, Jacque L; Maguire, Maureen G; Audo, Isabelle; Ayala, Allison R; Bernstein, Paul S; Bidelman, Gavin M; Cheetham, Janet K; Doty, Richard L; Durham, Todd A; Hufnagel, Robert B; Myers, Mark H; Stingl, Katarina; Zein, Wadih M.

Am J Med Genet A ; 185(12): 3717-3727, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-34331386

8.

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.

Lehky, Tanya J; Sackstein, Paul; Tamura, Deborah; Quezado, Martha; Wu, Tianxia; Khan, Sikandar G; Patronas, Nicholas J; Wiggs, Edythe; Brewer, Carmen C; DiGiovanna, John J; Kraemer, Kenneth H.

BMC Neurol ; 21(1): 393, 2021 Oct 09.

Artigo em Inglês | MEDLINE | ID: mdl-34627174

9.

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

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.

Proc Natl Acad Sci U S A ; 114(37): E7766-E7775, 2017 09 12.

Artigo em Inglês | MEDLINE | ID: mdl-28847925

10.

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

Chao, Janet R; Chattaraj, Parna; Munjal, Tina; Honda, Keiji; King, Kelly A; Zalewski, Christopher K; Chien, Wade W; Brewer, Carmen C; Griffith, Andrew J.

BMC Med Genet ; 20(1): 118, 2019 07 02.

Artigo em Inglês | MEDLINE | ID: mdl-31266487

11.

Stability of Early Auditory Evoked Potential Components Over Extended Test-Retest Intervals in Young Adults.

Bieber, Rebecca E; Fernandez, Katharine; Zalewski, Chris; Cheng, Hui; Brewer, Carmen C.

Ear Hear ; 41(6): 1461-1469, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-33136623

12.

Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory, Daniel S; Ottinger, Elizabeth A; Farhat, Nicole Yanjanin; King, Kelly A; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A; Xu, Xin; Thurm, Audrey; Solomon, Beth; Pavan, William J; Machielse, Bernardus N; Kao, Mark; Silber, Steven A; McKew, John C; Brewer, Carmen C; Vite, Charles H; Walkley, Steven U; Austin, Christopher P; Porter, Forbes D.

Lancet ; 390(10104): 1758-1768, 2017 Oct 14.

Artigo em Inglês | MEDLINE | ID: mdl-28803710

13.

Examination of Utricular Response Using oVEMP and Unilateral Centrifugation Rotation Testing.

Zalewski, Christopher K; Ackley, R Steven; McCaslin, Devin L; Clark, M Diane; Hanks, Wendy D; Brewer, Carmen C.

Ear Hear ; 39(5): 910-921, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29432406

14.

Clinical trials, ototoxicity grading scales and the audiologist's role in therapeutic decision making.

King, Kelly A; Brewer, Carmen C.

Int J Audiol ; 57(sup4): S89-S98, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29276851

15.

Genetic causes of moderate to severe hearing loss point to modifiers.

Naz, Sadaf; Imtiaz, Ayesha; Mujtaba, Ghulam; Maqsood, Azra; Bashir, Rasheeda; Bukhari, Ihtisham; Khan, Muhammad R; Ramzan, Memoona; Fatima, Amara; Rehman, Atteeq U; Iqbal, Muddassar; Chaudhry, Taimur; Lund, Merete; Brewer, Carmen C; Morell, Robert J; Friedman, Thomas B.

Clin Genet ; 91(4): 589-598, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-27573290

16.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Spinner, Michael A; Sanchez, Lauren A; Hsu, Amy P; Shaw, Pamela A; Zerbe, Christa S; Calvo, Katherine R; Arthur, Diane C; Gu, Wenjuan; Gould, Christine M; Brewer, Carmen C; Cowen, Edward W; Freeman, Alexandra F; Olivier, Kenneth N; Uzel, Gulbu; Zelazny, Adrian M; Daub, Janine R; Spalding, Christine D; Claypool, Reginald J; Giri, Neelam K; Alter, Blanche P; Mace, Emily M; Orange, Jordan S; Cuellar-Rodriguez, Jennifer; Hickstein, Dennis D; Holland, Steven M.

Blood ; 123(6): 809-21, 2014 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-24227816

17.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Kalejaiye, Adedoyin; Giri, Neelam; Brewer, Carmen C; Zalewski, Christopher K; King, Kelly A; Adams, Charleen D; Rosenberg, Philip S; Kim, H Jeffrey; Alter, Blanche P.

Pediatr Blood Cancer ; 63(12): 2139-2145, 2016 12.

Artigo em Inglês | MEDLINE | ID: mdl-27428025

18.

Phase 1 trial and pharmacokinetic study of the oral platinum analog satraplatin in children and young adults with refractory solid tumors including brain tumors.

Akshintala, Srivandana; Marcus, Leigh; Warren, Katherine E; Murphy, Robert F; Sissung, Tristan M; Srivastava, Anjali; Goodspeed, Wendy J; Goodwin, Anne; Brewer, Carmen C; Zalewski, Christopher; King, Kelly A; Kim, AeRang; Figg, William D; Widemann, Brigitte C.

Pediatr Blood Cancer ; 62(4): 603-10, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25556988

19.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Totonchy, Mariam B; Tamura, Deborah; Pantell, Matthew S; Zalewski, Christopher; Bradford, Porcia T; Merchant, Saumil N; Nadol, Joseph; Khan, Sikandar G; Schiffmann, Raphael; Pierson, Tyler Mark; Wiggs, Edythe; Griffith, Andrew J; DiGiovanna, John J; Kraemer, Kenneth H; Brewer, Carmen C.

Brain ; 136(Pt 1): 194-208, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-23365097

20.

Auditory phenotype of Niemann-Pick disease, type C1.

King, Kelly A; Gordon-Salant, Sandra; Yanjanin, Nicole; Zalewski, Christopher; Houser, Ari; Porter, Forbes D; Brewer, Carmen C.

Ear Hear ; 35(1): 110-7, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24225652

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