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
em 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
em Inglês
| MEDLINE | ID: mdl-37106064
3.
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Kidney Int
; 100(5): 1092-1100, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34153329
4.
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
em Inglês
| MEDLINE | ID: mdl-31345061
5.
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
J Transl Med
; 17(1): 351, 2019 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655630
6.
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Clin Exp Ophthalmol
; 47(6): 779-786, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977268
7.
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
em Inglês
| MEDLINE | ID: mdl-25616960
8.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
9.
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
em Inglês
| MEDLINE | ID: mdl-23418306
10.
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Ophthalmology
; 122(8): 1555-62, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077580
11.
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
em Inglês
| MEDLINE | ID: mdl-24616153
12.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044745
13.
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
em Inglês
| MEDLINE | ID: mdl-22152675
14.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
; 29(8): 1451-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504730
15.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat
; 34(5): 714-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418020
16.
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Am J Med Genet A
; 161A(6): 1394-400, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633388
17.
[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics]. / Erbliche Netzhautdystrophien in Deutschland Versorgungsstrukturelle und diagnostische Herausforderungen.
Ophthalmologie
; 120(12): 1251-1257, 2023 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-37606831
18.
The tectonic complex regulates membrane protein composition in the photoreceptor cilium.
Nat Commun
; 14(1): 5671, 2023 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704658
19.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
J Clin Invest
; 133(8)2023 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862503
20.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight
; 8(22)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796616