Detalhe da pesquisa
1.
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
2.
An unexpected case of non-uremic calciphylaxis in a patient with multiple risk factors.
Dermatol Online J
; 28(6)2022 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809094
3.
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
Exp Dermatol
; 29(7): 580-587, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347581
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
J Inherit Metab Dis
; 41(6): 1159-1167, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159852
10.
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Matrix Biol
; 99: 43-57, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004352
11.
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Matrix Biol
; 81: 91-106, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463024
12.
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Matrix Biol
; 66: 22-33, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29138120
13.
Self-extubation Laryngeal Injuries at an Academic Tertiary Care Center: A Retrospective Pilot Study.
Ann Otol Rhinol Laryngol
; 126(7): 555-560, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503976
14.
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Orphanet J Rare Dis
; 12(1): 176, 2017 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29208051
15.
Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939.
Sci Rep
; 6: 30976, 2016 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27498764
16.
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
J Invest Dermatol
; 137(12): 2649-2652, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28830826