Found: 45
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Epithelioid cell granuloma formation in CARD14‐associated papulosquamous eruptions.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 5, p. e369, doi. 10.1111/jdv.17890
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- Publication type:
- Article
Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.
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- Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 3, p. e215, doi. 10.1111/jdv.17752
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- Publication type:
- Article
Intravenous allogeneic multilineage‐differentiating stress‐enduring cells in adults with dystrophic epidermolysis bullosa: a phase 1/2 open‐label study.
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- Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 8, p. e528, doi. 10.1111/jdv.17201
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- Publication type:
- Article
MEDNIK‐like syndrome due to compound heterozygous mutations in AP1B1.
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- Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 5, p. e345, doi. 10.1111/jdv.17098
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- Publication type:
- Article
Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation.
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- Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 4, p. e257, doi. 10.1111/jdv.16990
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- Publication type:
- Article
A patient with CARD14‐associated papulosquamous eruptions showing atopic dermatitis‐like features.
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- Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 1, p. e58, doi. 10.1111/jdv.16799
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- Publication type:
- Article
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.
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- British Journal of Dermatology, 2020, v. 182, n. 2, p. 491, doi. 10.1111/bjd.18445
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- Publication type:
- Article
A patient with bullous pemphigoid with mucosal involvement serologically positive for anti‐BP230 autoantibodies only.
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- British Journal of Dermatology, 2020, v. 182, n. 1, p. 221, doi. 10.1111/bjd.18343
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- Publication type:
- Article
A juvenile male case of dermatofibrosarcoma protuberans on the breast.
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- Clinical & Experimental Dermatology, 2020, v. 45, n. 1, p. 111, doi. 10.1111/ced.13938
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- Publication type:
- Article
Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder.
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- Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 1, p. e41, doi. 10.1111/jdv.15892
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- Publication type:
- Article
A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.
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- Clinical & Experimental Dermatology, 2019, v. 44, n. 7, p. e240, doi. 10.1111/ced.13979
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- Publication type:
- Article
Acrodermatitis continua of Hallopeau with dense infiltration of IgG4‐positive cells in the lesional dermis.
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- British Journal of Dermatology, 2019, v. 180, n. 4, p. 941, doi. 10.1111/bjd.17405
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- Publication type:
- Article
Sterol profiles are valuable biomarkers for phenotype expression of Conradi–Hünermann–Happle syndrome with EBP mutations.
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- British Journal of Dermatology, 2018, v. 179, n. 5, p. 1186, doi. 10.1111/bjd.16823
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- Publication type:
- Article
Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C‐terminus of KIT.
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- British Journal of Dermatology, 2018, v. 179, n. 5, p. 1210, doi. 10.1111/bjd.16895
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- Publication type:
- Article
Mild Hailey–Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Dyschromatosis symmetrica hereditaria with chilblains due to a novel two‐amino‐acid deletion in the double‐stranded RNA‐binding domain of ADAR1.
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- Journal of the European Academy of Dermatology & Venereology, 2018, v. 32, n. 10, p. e394, doi. 10.1111/jdv.15076
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- Publication type:
- Article
Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30757-3
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- Publication type:
- Article
Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A–I editing efficiency of ADAR1 mutants and phenotype expression.
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- 2018
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- Publication type:
- Letter to the Editor
Two cases of generalized pustular psoriasis complicated by IgG4‐related disease.
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- 2018
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- Publication type:
- Letter to the Editor
Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.
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- 2018
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- Publication type:
- Letter to the Editor
A novel <italic>IFIH1</italic> mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient.
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- British Journal of Dermatology, 2018, v. 178, n. 2, p. e111, doi. 10.1111/bjd.15869
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- Publication type:
- Article
Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Hailey‐Hailey disease due to <italic>ATP2C1</italic> splice site mutation, successfully treated with minocycline hydrochloride.
- Published in:
- 2018
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- Publication type:
- Case Study
Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of <italic>IL36RN</italic>.
- Published in:
- British Journal of Dermatology, 2017, v. 177, n. 6, p. 1732, doi. 10.1111/bjd.15509
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- Publication type:
- Article
Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.
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- British Journal of Dermatology, 2017, v. 177, n. 4, p. e133, doi. 10.1111/bjd.15442
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- Publication type:
- Article
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.
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- British Journal of Dermatology, 2017, v. 177, n. 3, p. e62, doi. 10.1111/bjd.15315
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- Publication type:
- Article
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.
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- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 3, p. e175, doi. 10.1111/jdv.13906
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- Publication type:
- Article
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
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- British Journal of Dermatology, 2017, v. 176, n. 2, p. 534, doi. 10.1111/bjd.14845
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- Publication type:
- Article
Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation.
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- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 2, p. e130, doi. 10.1111/jdv.13877
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- Publication type:
- Article
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
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- Clinical & Experimental Dermatology, 2016, v. 41, n. 3, p. 290, doi. 10.1111/ced.12751
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- Publication type:
- Article
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5.
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- British Journal of Dermatology, 2016, v. 174, n. 2, p. 430, doi. 10.1111/bjd.13931
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- Publication type:
- Article
Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.
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- Clinical & Experimental Dermatology, 2015, v. 40, n. 8, p. 860, doi. 10.1111/ced.12702
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- Publication type:
- Article
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
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- Clinical & Experimental Dermatology, 2015, v. 40, n. 5, p. 529, doi. 10.1111/ced.12587
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- Publication type:
- Article
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
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- British Journal of Dermatology, 2015, v. 172, n. 5, p. 1407, doi. 10.1111/bjd.13473
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- Publication type:
- Article
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
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- British Journal of Dermatology, 2015, v. 172, n. 4, p. 1111, doi. 10.1111/bjd.13413
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- Publication type:
- Article
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
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- British Journal of Dermatology, 2015, v. 172, n. 2, p. 527, doi. 10.1111/bjd.13294
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- Publication type:
- Article
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
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- British Journal of Dermatology, 2015, v. 172, n. 1, p. 94, doi. 10.1111/bjd.13190
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- Publication type:
- Article
The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon- Lefèvre syndrome with all permanent teeth remaining at over 40 years of age.
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- British Journal of Dermatology, 2013, v. 169, n. 4, p. 948, doi. 10.1111/bjd.12429
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- Publication type:
- Article
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
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- Journal of the European Academy of Dermatology & Venereology, 2013, v. 27, n. 9, p. 1182, doi. 10.1111/j.1468-3083.2012.04526.x
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- Publication type:
- Article
A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.
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- British Journal of Dermatology, 2012, v. 167, n. 3, p. 699, doi. 10.1111/j.1365-2133.2012.10953.x
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- Publication type:
- Article
Effects of Compatibilizers and Testing Speeds on the Mechanical Properties of Organophilic Montmorillonite Filled Polyamide 6/Polypropylene Nanocomposites.
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- Polymer Engineering & Science, 2010, v. 50, n. 8, p. 1493, doi. 10.1002/pen.21622
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- Publication type:
- Article
Effect of clay modification on the morphological, mechanical, and thermal properties of polyamide 6/polypropylene/montmorillonite nanocomposites.
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- Polymer Composites, 2010, v. 31, n. 7, p. 1156, doi. 10.1002/pc.20902
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- Publication type:
- Article
Water absorption behavior of different types of organophilic montmorillonite-filled polyamide 6/polypropylene nanocomposites.
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- Polymer Composites, 2010, v. 31, n. 2, p. 195, doi. 10.1002/pc.20784
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- Publication type:
- Article
Type 2 diabetes impairs implant osseointegration capacity in rats.
- Published in:
- 2008
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- Publication type:
- Journal Article
Carbonization behavior of polyimide films with various chemical structures.
- Published in:
- Journal of Applied Polymer Science, 1992, v. 44, n. 3, p. 521, doi. 10.1002/app.1992.070440316
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- Publication type:
- Article