Detalhe da pesquisa
1.
Syntaxin 4 is essential for hearing in human and zebrafish.
Hum Mol Genet
; 32(7): 1184-1192, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355422
2.
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
Cell
; 141(5): 786-98, 2010 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20510926
3.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
4.
Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Mol Ther
; 31(12): 3490-3501, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864333
5.
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Am J Hum Genet
; 105(4): 869-878, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564433
6.
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
J Med Genet
; 58(7): 442-452, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709676
7.
Corneal Structural Changes in Congenital Glaucoma.
Eye Contact Lens
; 48(1): 27-32, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608027
8.
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
Hum Mol Genet
; 28(13): 2212-2223, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220269
9.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Am J Hum Genet
; 103(6): 1045-1052, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526862
10.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
11.
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
PLoS Genet
; 14(3): e1007297, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590114
12.
Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.
Int J Mol Sci
; 22(19)2021 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638995
13.
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
Int J Mol Sci
; 23(1)2021 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008666
14.
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.
Mol Biol Rep
; 47(12): 9987-9993, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33231815
15.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
16.
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Hum Mutat
; 40(8): 1156-1171, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009165
17.
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Mol Vis
; 25: 144-154, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820150
18.
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
J Med Genet
; 55(7): 479-488, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572253
19.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genet
; 11(3): e1005097, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807530
20.
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Ophthalmology
; 124(7): 1004-1013, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366503