Detalhe da pesquisa
1.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34245260
2.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
J Hum Genet
; 68(9): 607-613, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37106064
3.
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
J Hum Genet
; 67(1): 55-64, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34354232
4.
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Kidney Int
; 100(5): 1092-1100, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34153329
5.
Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective.
Klin Monbl Augenheilkd
; 238(3): 261-266, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33784789
6.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31345061
7.
[The Bardet-Biedl Syndrome - Diagnosis and Follow-up]. / Bardet-Biedl-Syndrom Diagnose und klinischer Verlauf.
Klin Monbl Augenheilkd
; 237(3): 239-247, 2020 Mar.
Artigo
Alemão
| MEDLINE | ID: mdl-32182628
8.
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
J Transl Med
; 17(1): 351, 2019 10 26.
Artigo
Inglês
| MEDLINE | ID: mdl-31655630
9.
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Clin Exp Ophthalmol
; 47(6): 779-786, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30977268
10.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med
; 20(6): 614-621, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29309402
11.
[Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing]. / Herausforderungen und Fallstricken zum Trotz: Wie die Ophthalmologie von Next-Generation Sequencing profitiert.
Klin Monbl Augenheilkd
; 235(3): 258-263, 2018 Mar.
Artigo
Alemão
| MEDLINE | ID: mdl-29390234
12.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25616960
13.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26593283
14.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet
; 22(11): 2177-85, 2013 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23418306
15.
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Ophthalmology
; 122(8): 1555-62, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26077580
16.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat
; 35(5): 565-70, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24616153
17.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25044745
18.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet
; 88(3): 362-71, 2011 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21353196
19.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet
; 89(6): 713-30, 2011 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-22152675
20.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
; 29(8): 1451-6, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24504730