Detalles de la búsqueda
1.
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Am J Hum Genet
; 105(4): 803-812, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31564438
2.
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
J Med Genet
; 58(7): 465-474, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32737134
3.
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Neural Plast
; 2020: 6137083, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32684921
4.
Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.
Neural Plast
; 2020: 8841522, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32802038
5.
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
J Med Genet
; 55(5): 298-306, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29453195
6.
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
BMC Med Genet
; 19(1): 157, 2018 09 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30176854
7.
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Neural Plast
; 2017: 3192090, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28695016
8.
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
Am J Med Genet A
; 167A(10): 2357-65, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26079994
9.
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
BMC Med Genomics
; 17(1): 32, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254107
10.
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
J Transl Med
; 11: 284, 2013 Nov 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-24206587
11.
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Mol Genet Genomic Med
; 11(3): e2103, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36373990
12.
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Front Genet
; 13: 825082, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35711932
13.
Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.
Gene Expr Patterns
; 43: 119229, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34968768
14.
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC Med Genomics
; 15(1): 241, 2022 11 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401330
15.
Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.
Stem Cell Res
; 53: 102271, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33714068
16.
Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.
Stem Cell Res
; 48: 101986, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32961450
17.
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
Hum Genet
; 125(1): 53-62, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19050930
18.
[Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].
Zhonghua Yi Xue Za Zhi
; 89(10): 677-9, 2009 Mar 17.
Artículo
en Zh
| MEDLINE | ID: mdl-19595061
19.
[Molecular etiology of non-syndromic hearing impairment in a Chinese family].
Zhonghua Yi Xue Za Zhi
; 89(36): 2540-3, 2009 Sep 29.
Artículo
en Zh
| MEDLINE | ID: mdl-20137614
20.
[Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].
Zhonghua Yi Xue Za Zhi
; 89(7): 433-7, 2009 Feb 24.
Artículo
en Zh
| MEDLINE | ID: mdl-19567088