Detalhe da pesquisa
1.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell
; 184(14): 3812-3828.e30, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214472
2.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet
; 18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482848
3.
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.
Genet Med
; 26(2): 101028, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978863
4.
Causal effect of serum 25 hydroxyvitamin D concentration on cardioembolic stroke: Evidence from two-sample Mendelian randomization.
Nutr Metab Cardiovasc Dis
; 34(5): 1305-1313, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508993
5.
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Mol Cancer
; 22(1): 126, 2023 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543594
6.
Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians.
J Am Acad Dermatol
; 89(3): 569-576, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34118299
7.
Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.
J Am Acad Dermatol
; 89(6): 1215-1226, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35963288
8.
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Hum Mutat
; 43(12): 1706-1731, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815343
9.
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Genet Med
; 24(1): 75-86, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906475
10.
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Clin Chem
; 67(6): 876-888, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969388
11.
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
Exp Dermatol
; 29(7): 580-587, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347581
12.
Linear basal cell nevus with a novel mosaic PTCH1 mutation.
Exp Dermatol
; 29(6): 531-534, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298489
13.
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Acta Derm Venereol
; 100(7): adv00095, 2020 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147742
14.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Hum Mutat
; 40(2): 217-229, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30431684
15.
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Hum Mutat
; 40(3): 288-298, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578701
16.
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Clin Infect Dis
; 68(11): 1938-1941, 2019 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778533
17.
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
J Hepatol
; 71(2): 366-370, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30954460
18.
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Exp Dermatol
; 28(10): 1118-1121, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364557
19.
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Hum Mutat
; 39(10): 1349-1354, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016581
20.
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
BMC Med Genet
; 19(1): 87, 2018 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801470