Detalhe da pesquisa
1.
Amniotic membrane dressings for treatment of aplasia cutis in newborns.
Pediatr Dermatol;
41(3): 445-450, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38409959
2.
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
3.
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
4.
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Hum Mutat;
41(5): 906-912, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31930626
5.
Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.
Immunol Invest;
49(6): 597-610, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31762358
6.
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
7.
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
8.
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
9.
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
10.
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
DNA Repair (Amst);
136: 103633, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38422792
11.
Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Am J Gastroenterol;
112(2): 396-398, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28154377
12.
An Unusual TEN-Like Presentation of Juvenile Bullous Pemphigoid: A Diagnostic Challenge.
Case Rep Dermatol Med;
2022: 8507156, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35449587
13.
Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.
JCI Insight;
7(8)2022 04 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35316210
14.
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
15.
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Sci Rep;
10(1): 21622, 2020 12 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33303784
16.
Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.
Int J Dermatol;
57(12): 1485-1491, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30246302
17.
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Eur J Hum Genet;
25(11): 1282-1285, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28875980
18.
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
J Invest Dermatol;
137(3): 660-669, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27899325
19.
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
J Invest Dermatol;
137(3): 678-685, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27884779
20.
Association between single nucleotide polymorphisms of the interleukin-4 gene and atopic dermatitis.
Acta Dermatovenerol Croat;
23(2): 96-100, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26228820