Detalhe da pesquisa
1.
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Pediatr Dermatol
; 40(6): 1021-1027, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37827535
2.
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Exp Dermatol
; 30(9): 1290-1297, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33786896
3.
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Exp Dermatol
; 29(8): 742-748, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32618001
4.
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
Am J Hum Genet
; 99(2): 430-6, 2016 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27476651
5.
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
PLoS Genet
; 12(10): e1006369, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27736875
6.
SVEP1 plays a crucial role in epidermal differentiation.
Exp Dermatol
; 26(5): 423-430, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27892606
7.
Epidermolytic Ichthyosis Sine Epidermolysis.
Am J Dermatopathol
; 39(6): 440-444, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28121638
8.
Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.
Pediatr Dermatol
; 33(3): 322-6, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27087580
9.
Efficient Flp-Int HK022 dual RMCE in mammalian cells.
Nucleic Acids Res
; 41(12): e125, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23630322
10.
Arm site independence of coliphage HK022 integrase in human cells.
Mol Genet Genomics
; 285(5): 403-13, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21442327
11.
Site-specific recombination in the cyanobacterium Anabaena sp. strain PCC 7120 catalyzed by the integrase of coliphage HK022.
J Bacteriol
; 191(13): 4458-64, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19429625
12.
Molecular analysis of recombinase-mediated cassette exchange reactions catalyzed by integrase of coliphage HK022.
Res Microbiol
; 159(9-10): 663-70, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18848986
13.
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.
J Invest Dermatol
; 138(8): 1736-1743, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29758285
14.
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
J Invest Dermatol
; 137(2): 385-393, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27769845
15.
High efficiency of a sequential recombinase-mediated cassette exchange reaction in Escherichia coli.
J Mol Microbiol Biotechnol
; 19(3): 117-22, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20924197
16.
Optimization of coliphage HK022 Integrase activity in human cells.
Gene
; 437(1-2): 9-13, 2009 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19268511