Detalhe da pesquisa
1.
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Doc Ophthalmol
; 2024 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38922562
2.
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
J Med Genet
; 60(12): 1245-1249, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460203
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
4.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534079
5.
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Genet Med
; 23(3): 479-487, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33100333
6.
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
Platelets
; 32(3): 420-423, 2021 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32245340
7.
Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
J Gene Med
; 22(8): e3197, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246869
8.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genet Med
; 22(10): 1613-1622, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565547
9.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
10.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Am J Med Genet A
; 179(6): 1030-1033, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903679
11.
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.
Clin Exp Dermatol
; 48(12): 1414-1417, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401642
12.
A novel compound heterozygous variant in the LLS gene is associated with nonsyndromic hypotrichosis.
Clin Exp Dermatol
; 48(9): 1087-1089, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140446
13.
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Clin Genet
; 97(3): 527-528, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694064
14.
Genotypic spectrum of albinism in Mali.
Pigment Cell Melanoma Res
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38720644
15.
Characterization of the novel HLA-DRB1*11:01:01:12N allele by sequencing-based typing.
HLA
; 102(6): 765-768, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605385
16.
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment Cell Melanoma Res
; 2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650133
17.
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Invest Ophthalmol Vis Sci
; 64(12): 26, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37707835
18.
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/ßthal genotype in an individual from the Democratic Republic of Congo.
Eur J Med Genet
; 65(10): 104594, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964929
19.
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Nat Commun
; 13(1): 3939, 2022 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803923
20.
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Genes (Basel)
; 13(12)2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553465