Detalhe da pesquisa
1.
Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and mice.
Genes Dev
; 35(1-2): 157-174, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33334823
2.
Dynamic changes in ocular shape during human development and its implications for retina fovea formation.
Bioessays
; 46(1): e2300054, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037292
3.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
4.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS Genet
; 18(3): e1010129, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353811
5.
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Am J Med Genet A
; 194(2): 195-202, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774117
6.
Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.
Retina
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478753
7.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Ophthalmology
; 130(4): 423-432, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332842
8.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807241
9.
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Am J Med Genet A
; 191(2): 624-629, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541585
10.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
; 59(3): 294-304, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495304
11.
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Adv Exp Med Biol
; 1415: 289-295, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440047
12.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
; 43(5): 613-624, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266249
13.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
14.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Mov Disord
; 37(2): 375-383, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636445
15.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
16.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040189
17.
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Am J Med Genet A
; 185(12): 3717-3727, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331386
18.
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Hum Mutat
; 41(9): 1528-1539, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531846
19.
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Hum Mutat
; 41(3): 678-695, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816153
20.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997