Detalhe da pesquisa
1.
"My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss.
J Genet Couns
; 27(3): 597-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980162
2.
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
Proc Natl Acad Sci U S A
; 107(30): 13396-401, 2010 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624953
3.
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Hum Mutat
; 32(8): 877-86, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538686
4.
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Am J Hum Genet
; 83(2): 278-92, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18674745
5.
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.
Am J Med Genet A
; 155A(1): 154-63, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204225
6.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Am J Med Genet A
; 155A(6): 1298-313, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538838
7.
Ossifying lipoma of c1-c2 in an adolescent.
J Pediatr Orthop
; 31(5): e53-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21654449
8.
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Am J Med Genet A
; 149A(3): 396-402, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19215039
9.
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).
Am J Med Genet A
; 149A(5): 906-13, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353688
10.
Clinical characterization of novel chromosome 22q13 microdeletions.
Int J Pediatr Otorhinolaryngol
; 95: 121-126, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28576520
11.
Superior Canal Dehiscence Syndrome Affecting 3 Families.
JAMA Otolaryngol Head Neck Surg
; 143(7): 656-662, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28384775
12.
Tracheotomy in very low birth weight neonates: indications and outcomes.
Laryngoscope
; 116(6): 928-33, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16735883
13.
Parent Perception of Newborn Hearing Screening: Results of a US National Survey.
JAMA Otolaryngol Head Neck Surg
; 142(6): 538-43, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967534
14.
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1.
eNeuro
; 3(6)2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058271
15.
Infantile Frey's syndrome.
Int J Pediatr Otorhinolaryngol
; 79(6): 929-931, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908408
16.
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.
Otol Neurotol
; 36(10): 1651-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26474326
17.
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Hum Mutat
; 22(4): 275-87, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12955714
18.
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.
J Assoc Res Otolaryngol
; 5(4): 411-26, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15675004
19.
Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.
Int J Mol Med
; 14(5): 903-7, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15492864
20.
A PCR-RFLP assay for the A716T mutation in the WFS1 gene, a common cause of low-frequency sensorineural hearing loss.
Genet Test
; 6(3): 229-31, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12490066