Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
BMC Ophthalmol
; 21(1): 168, 2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836713
3.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(3): 451-458, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886343
4.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Am J Hum Genet
; 100(1): 138-150, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017370
5.
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Cerebellum
; 19(1): 161-163, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721007
6.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
7.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(5): 866, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100096
8.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(4): 638, 2017 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985497
9.
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
Ophthalmic Genet
; 45(2): 210-217, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38273808
10.
MERTK missense variants in three patients with retinitis pigmentosa.
Ophthalmic Genet
; 44(1): 74-82, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036427
11.
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372373
12.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792598
13.
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy.
Am J Ophthalmol Case Rep
; 28: 101698, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393903
14.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Genes (Basel)
; 13(8)2022 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36011334
15.
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Eye (Lond)
; 35(5): 1440-1449, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728228
16.
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Genes (Basel)
; 11(11)2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33138239
17.
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
JAMA Ophthalmol
; 138(11): 1151-1158, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970112
18.
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Ophthalmic Genet
; 41(4): 331-337, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32543920
19.
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
JAMA Ophthalmol
; 138(5): 544-551, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32239196
20.
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Genes (Basel)
; 11(12)2020 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322828