Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-37460203
2.
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Hum Genet
; 140(6): 933-944, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33475861
3.
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Genet Med
; 23(3): 479-487, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33100333
4.
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
Inglês
| MEDLINE | ID: mdl-32245340
5.
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
Inglês
| MEDLINE | ID: mdl-32246869
6.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genet Med
; 22(10): 1613-1622, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32565547
7.
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
Inglês
| MEDLINE | ID: mdl-30903679
8.
Genotypic spectrum of albinism in Mali.
Pigment Cell Melanoma Res
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38720644
9.
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
Inglês
| MEDLINE | ID: mdl-37650133
10.
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
Inglês
| MEDLINE | ID: mdl-35803923
11.
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pigment Cell Melanoma Res
; 34(1): 132-135, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32687635
12.
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Acta Neuropathol Commun
; 8(1): 48, 2020 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32293553
13.
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
Eur J Med Genet
; 63(8): 103942, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32439617
14.
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
Ophthalmic Genet
; 40(2): 161-164, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30942644
15.
Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins.
J Dermatol Sci
; 114(2): 79-82, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38556435
16.
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Br J Ophthalmol
; 103(9): 1239-1247, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30472657
17.
Molecular characterization of a series of 990 index patients with albinism.
Pigment Cell Melanoma Res
; 31(4): 466-474, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29345414
18.
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Pigment Cell Melanoma Res
; 30(6): 563-570, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28640947
19.
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.
J Invest Dermatol
; 140(6): 1289-1292.e2, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31790666
20.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Pigment Cell Melanoma Res
; 27(1): 59-71, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24118800