Found: 141
Select item for more details and to access through your institution.
Visualization of Patients' Skin Lesions on Their Smartphones: A New Step During Dermatology Visits.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Unclassifiable interstitial lung disease and autoimmunity: Towards IPAF in children?
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 11, p. 3303, doi. 10.1002/ppul.26660
- By:
- Publication type:
- Article
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A New TRPV3 Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 3, p. 303, doi. 10.1001/jamadermatol.2013.8709
- By:
- Publication type:
- Article
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.705019
- By:
- Publication type:
- Article
Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases.
- Published in:
- American Journal of Clinical Dermatology, 2018, v. 19, n. 4, p. 609, doi. 10.1007/s40257-018-0354-9
- By:
- Publication type:
- Article
Topical Corticosteroid Concerns Among Parents of Children with Psoriasis versus Atopic Dermatitis: A French Multicenter Cross-Sectional Study.
- Published in:
- American Journal of Clinical Dermatology, 2018, v. 19, n. 2, p. 261, doi. 10.1007/s40257-017-0318-5
- By:
- Publication type:
- Article
Severe cutaneous bacillus Calmette-Guérin infection in immunocompromised children: the relevance of skin biopsy.
- Published in:
- Journal of Cutaneous Pathology, 2013, v. 40, n. 1, p. 30, doi. 10.1111/cup.12048
- By:
- Publication type:
- Article
Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies.
- Published in:
- Journal of Cutaneous Pathology, 2009, v. 36, n. 9, p. 966, doi. 10.1111/j.1600-0560.2009.01206.x
- By:
- Publication type:
- Article
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-76
- By:
- Publication type:
- Article
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36
- By:
- Publication type:
- Article
Family burden in inherited ichthyosis: creation of a specific questionnaire.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-28
- By:
- Publication type:
- Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Family burden in inherited ichthyosis: creation of a specific questionnaire.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Syndromic (phenotypic) diarrhea in early infancy.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Syndromic (phenotypic) diarrhea in early infancy.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-6
- By:
- Publication type:
- Article
A child with severe juvenile dermatomyositis treated with ruxolitinib.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome; A Systematic Review.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.864449
- By:
- Publication type:
- Article
Accurate diagnosis of acute hemorrhagic edema of infancy: a French multicenter observational study.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 9, p. 4133, doi. 10.1007/s00431-023-05098-7
- By:
- Publication type:
- Article
Efficacy of colchicine in a child with relapsing bullous Henoch-Schönlein purpura.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Exploring the Impact of Epidermolysis Bullosa on Parents and Caregivers: A Cross-Cultural Validation of the Epidermolysis Bullosa Burden of Disease Questionnaire.
- Published in:
- Clinical, Cosmetic & Investigational Dermatology, 2024, v. 17, p. 1027, doi. 10.2147/CCID.S459429
- By:
- Publication type:
- Article
Automatic recognition of the XLHED phenotype from facial images.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2408, doi. 10.1002/ajmg.a.38343
- By:
- Publication type:
- Article
Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2461, doi. 10.1002/ajmg.a.36519
- By:
- Publication type:
- Article
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1786, doi. 10.1002/ajmg.a.35984
- By:
- Publication type:
- Article
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 829, doi. 10.1038/ng.373
- By:
- Publication type:
- Article
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 277
- By:
- Publication type:
- Article
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 141, doi. 10.1038/75977
- By:
- Publication type:
- Article
Therapeutic plasma exchange for life‐threatening pediatric disorders.
- Published in:
- Journal of Clinical Apheresis, 2021, v. 36, n. 6, p. 823, doi. 10.1002/jca.21934
- By:
- Publication type:
- Article
P63‐related disorders: Dermatological characteristics in 22 patients.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1190, doi. 10.1111/exd.14045
- By:
- Publication type:
- Article
A focus on rare and undiagnosed skin diseases.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1103, doi. 10.1111/exd.14035
- By:
- Publication type:
- Article
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1142, doi. 10.1111/exd.13723
- By:
- Publication type:
- Article
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
- Published in:
- Frontiers in Pharmacology, 2022, v. 12, p. 1, doi. 10.3389/fphar.2021.746664
- By:
- Publication type:
- Article
Phenotypic and Genotypic Characteristics of Mastocytosis According to the Age of Onset.
- Published in:
- PLoS ONE, 2008, v. 3, n. 4, p. 1, doi. 10.1371/journal.pone.0001906
- By:
- Publication type:
- Article
Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Burden of albinism: development and validation of a burden assessment tool.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
- Published in:
- Human Genetics, 2014, v. 133, n. 3, p. 299, doi. 10.1007/s00439-013-1380-6
- By:
- Publication type:
- Article
Comparison of incidence, causes and prognosis of adult and paediatric epidermal necrolysis: a French population-based study.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 5, p. 698, doi. 10.1093/bjd/ljae240
- By:
- Publication type:
- Article
A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 2, p. 300, doi. 10.1093/bjd/ljae143
- By:
- Publication type:
- Article
Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 5, p. 773, doi. 10.1093/bjd/ljae082
- By:
- Publication type:
- Article
Severe tracheal involvement in type XVII collagen junctional epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 4, p. 564, doi. 10.1093/bjd/ljac135
- By:
- Publication type:
- Article
Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 12, doi. 10.1093/bjd/ljac001
- By:
- Publication type:
- Article
Safety and immunogenicity of Fc‐EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
- Published in:
- British Journal of Clinical Pharmacology, 2020, v. 86, n. 10, p. 2063, doi. 10.1111/bcp.14301
- By:
- Publication type:
- Article
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417
- By:
- Publication type:
- Article