Detalhe da pesquisa
1.
Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment.
Eur Arch Otorhinolaryngol
; 280(11): 4811-4817, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37093292
2.
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
Am J Med Genet A
; 152A(7): 1798-802, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583176
3.
Astrocyte Hypertrophy and Microglia Activation in the Rat Auditory Midbrain Is Induced by Electrical Intracochlear Stimulation.
Front Cell Neurosci
; 12: 43, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29520220
4.
A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment.
Biomed Res Int
; 2014: 307976, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24551843
5.
Necrotizing meningoencephalitis mimicking cerebellopontine angle tumor as late complication following cochlear implantation.
Cochlear Implants Int
; 13(1): 60-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22340754
6.
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania.
Int J Pediatr Otorhinolaryngol
; 76(1): 90-4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22070872
7.
LOH-profiling by SNP-mapping in a case of multifocal head and neck cancer.
World J Clin Oncol
; 3(2): 24-8, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22347692
8.
Head and neck cancer in young adults and nonsmokers: study of cancer susceptibility by genome-wide high-density SNP microarray mapping.
Acta Otolaryngol
; 131(10): 1091-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21631177
9.
Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.
Otol Neurotol
; 32(4): 690-4, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21555964
10.
Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis.
J Child Neurol
; 26(5): 622-4, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21421905
11.
Spectrum of hearing disorders and their management in children with CHARGE syndrome.
Otol Neurotol
; 31(1): 67-73, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19841601
12.
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.
Otol Neurotol
; 31(2): 210-5, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101161
13.
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
Am J Med Genet A
; 143A(21): 2588-91, 2007 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17910067
14.
A nuclear protein in Schizosaccharomyces pombe with homology to the human tumour suppressor Fhit has decapping activity.
Mol Microbiol
; 46(1): 49-62, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12366830
15.
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Am J Hum Genet
; 71(5): 1161-7, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12205563