Detalhe da pesquisa
1.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36243009
2.
Cognitive outcomes in Susac syndrome: A 2-year neuropsychological follow-up study.
Eur J Neurol
; 31(4): e16186, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38308420
3.
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
J Med Genet
; 59(5): 496-504, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33820832
4.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34624300
5.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33252155
6.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Retina
; 41(6): 1346-1355, 2021 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34001834
7.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Retina
; 41(1): 213-223, 2021 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32301896
8.
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
Clin Genet
; 98(1): 74-79, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32270475
9.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Hum Mutat
; 40(5): 539-551, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30668888
10.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30377383
11.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30670881
12.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30607024
13.
Diplopia as presenting sign of Turcot syndrome.
Int Ophthalmol
; 37(1): 275-278, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27143045
14.
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Ophthalmology
; 123(5): 1151-60, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26927203
15.
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.
Retina
; 36(11): 2227-2235, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27135212
16.
Contact dermatitis in patients undergoing serial intravitreal injections.
Contact Dermatitis
; 74(1): 18-21, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26489693
17.
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
Hum Mutat
; 36(1): 39-42, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25346251
18.
Colour Vision in Stargardt Disease.
Ophthalmic Res
; 54(4): 181-94, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26492201
19.
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Arterioscler Thromb Vasc Biol
; 33(11): 2646-52, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23968982
20.
Bilateral non-arteritic ischemic optic neuropathy in a transsexual woman using excessive estrogen dosage.
Arch Sex Behav
; 43(2): 407-9, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24057212