关注
Carmen Brewer
Carmen Brewer
National Institute on Deafness and other Communication Disorders
在 nidcd.nih.gov 的电子邮件经过验证
标题
引用次数
引用次数
年份
Gene therapy with human and mouse T-cell receptors mediates cancer regression and targets normal tissues expressing cognate antigen
LA Johnson, RA Morgan, ME Dudley, L Cassard, JC Yang, MS Hughes, ...
Blood, The Journal of the American Society of Hematology 114 (3), 535-546, 2009
17272009
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
R Goldbach-Mansky, NJ Dailey, SW Canna, A Gelabert, J Jones, BI Rubin, ...
New England Journal of Medicine 355 (6), 581-592, 2006
10582006
Phenotype and course of Hutchinson–Gilford progeria syndrome
MA Merideth, LB Gordon, S Clauss, V Sachdev, ACM Smith, MB Perry, ...
New England journal of medicine 358 (6), 592-604, 2008
7762008
Safety and recommendations for TMS use in healthy subjects and patient populations, with updates on training, ethical and regulatory issues: Expert Guidelines
S Rossi, A Antal, S Bestmann, M Bikson, C Brewer, J Brockmöller, ...
Clinical Neurophysiology 132 (1), 269-306, 2021
7672021
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
MA Spinner, LA Sanchez, AP Hsu, PA Shaw, CS Zerbe, KR Calvo, ...
Blood, The Journal of the American Society of Hematology 123 (6), 809-821, 2014
7182014
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
DS Ory, EA Ottinger, NY Farhat, KA King, X Jiang, L Weissfeld, ...
The Lancet 390 (10104), 1758-1768, 2017
3152017
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct …
SP Pryor, AC Madeo, JC Reynolds, NJ Sarlis, KS Arnos, WE Nance, ...
Journal of medical genetics 42 (2), 159-165, 2005
3042005
Sustained response and prevention of damage progression in patients with neonatal‐onset multisystem inflammatory disease treated with anakinra: a cohort study to determine …
CH Sibley, N Plass, J Snow, EA Wiggs, CC Brewer, KA King, C Zalewski, ...
Arthritis & Rheumatism 64 (7), 2375-2386, 2012
2342012
Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C
NM Yanjanin, JI Vélez, A Gropman, K King, SE Bianconi, SK Conley, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
2192010
Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease
KN Olivier, PA Shaw, TS Glaser, D Bhattacharyya, M Fleshner, CC Brewer, ...
Annals of the American Thoracic Society 11 (1), 30-35, 2014
1852014
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor, S Lenhard, R Kittles, ...
Human mutation 30 (4), 599-608, 2009
1642009
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ...
Genetics in Medicine 19 (2), 160-168, 2017
1442017
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
H Nakanishi, Y Kawashima, K Kurima, JJ Chae, AM Ross, ...
Proceedings of the National Academy of Sciences 114 (37), E7766-E7775, 2017
1392017
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
SL Ness, T Ben-Yosef, A Bar-Lev, AC Madeo, CC Brewer, KB Avraham, ...
Journal of Medical Genetics 40 (10), 767-772, 2003
1192003
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
JM Schultz, R Bhatti, AC Madeo, A Turriff, JA Muskett, CK Zalewski, ...
Journal of medical genetics 48 (11), 767-775, 2011
1172011
Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature
ES Doherty, F Lacbawan, DW Hadley, C Brewer, C Zalewski, HJ Kim, ...
American Journal of Medical Genetics Part A 143 (24), 3204-3215, 2007
1172007
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
M Ries, HJ Kim, CK Zalewski, MA Mastroianni, DF Moore, RO Brady, ...
Brain 130 (1), 143-150, 2007
942007
SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct
T Ito, BY Choi, KA King, CK Zalewski, J Muskett, P Chattaraj, T Shawker, ...
Cellular Physiology and Biochemistry 28 (3), 545-552, 2011
932011
Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations
N Ahmadi, CC Brewer, C Zalewski, KA King, JA Butman, N Plass, ...
Otolaryngology--Head and Neck Surgery 145 (2), 295-302, 2011
932011
Usher syndrome: hearing loss with vision loss
TB Friedman, JM Schultz, ZM Ahmed, ET Tsilou, CC Brewer
Medical genetics in the clinical practice of ORL 70, 56-65, 2011
912011
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