Found: 48
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Tonsillar fat herniation: A novel finding in Goltz syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Annular Plaques With Skin Atrophy in a Young Patient.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2022, v. 88, n. 1, p. 132, doi. 10.25259/IJDVL_488_20
- By:
- Publication type:
- Article
Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Epidermolysis Bullosa Pruriginosa Treated With Upadacitinib.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 10, p. 1124, doi. 10.1001/jamadermatol.2024.2787
- By:
- Publication type:
- Article
Sodium-Dependent Multivitamin Transporter Deficiency.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 9, p. 993, doi. 10.1001/jamadermatol.2024.1845
- By:
- Publication type:
- Article
Focal Dermal Hypoplasia.
- Published in:
- JAMA Dermatology, 2023, v. 159, n. 9, p. 998, doi. 10.1001/jamadermatol.2023.2435
- By:
- Publication type:
- Article
Epidermolysis Bullosa Pruriginosa Treated With Baricitinib.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Dry Scaly Patches and Nodules in a Middle-aged Man.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Linear Keratotic Lesions in a Young Woman.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Disseminated Asymptomatic Papules Over the Body.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 9, p. 1032, doi. 10.1001/jamadermatol.2015.0760
- By:
- Publication type:
- Article
Visit Adherence of Mild to Moderate Psoriasis Patients: A Mobile-Based Randomized Study.
- Published in:
- Patient Preference & Adherence, 2021, v. 15, p. 2551, doi. 10.2147/PPA.S277103
- By:
- Publication type:
- Article
A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 5, p. 843, doi. 10.1093/bjd/ljae275
- By:
- Publication type:
- Article
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 5, p. 805, doi. 10.1093/bjd/ljae291
- By:
- Publication type:
- Article
Progressive hyperpigmentation and lentigines due to KIT variants improving with imatinib.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 1, p. 148, doi. 10.1093/bjd/ljae109
- By:
- Publication type:
- Article
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 1, p. 107, doi. 10.1093/bjd/ljae108
- By:
- Publication type:
- Article
Identification of the underlying gene for Flegel disease: another 'two-hit' genodermatosis?
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 7, doi. 10.1093/bjd/ljac063
- By:
- Publication type:
- Article
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 100, doi. 10.1093/bjd/ljac029
- By:
- Publication type:
- Article
Three new founder mutations in Chinese patients with Nagashima‐type palmoplantar keratoderma.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 6, p. 1043, doi. 10.1111/bjd.21835
- By:
- Publication type:
- Article
Two cases of Chanarin‐Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
- Published in:
- International Journal of Dermatology, 2021, v. 60, n. 7, p. 904, doi. 10.1111/ijd.15432
- By:
- Publication type:
- Article
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 2, p. 185, doi. 10.1111/ijd.12655
- By:
- Publication type:
- Article
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02860-w
- By:
- Publication type:
- Article
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
- Published in:
- Hereditas, 2021, v. 158, n. 1, p. 1, doi. 10.1186/s41065-021-00184-y
- By:
- Publication type:
- Article
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genitourinary Involvement.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1711, doi. 10.1093/brain/awp078
- By:
- Publication type:
- Article
Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients.
- Published in:
- Journal of Dermatology, 2023, v. 50, n. 3, p. 375, doi. 10.1111/1346-8138.16621
- By:
- Publication type:
- Article
Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 11, p. e422, doi. 10.1111/1346-8138.16503
- By:
- Publication type:
- Article
Novel pathogenic variants in the RECQL4 gene causing Rothmund‐Thomson syndrome in three Chinese patients.
- Published in:
- Journal of Dermatology, 2021, v. 48, n. 10, p. 1511, doi. 10.1111/1346-8138.16015
- By:
- Publication type:
- Article
Generalized bullae in a young girl with KRT6A‐related pachyonychia congenita.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 5, p. 974, doi. 10.1111/pde.14285
- By:
- Publication type:
- Article
A Case of Hailey-Hailey Disease in an Infant with a New ATP2C1 Gene Mutation.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 2, p. 165, doi. 10.1111/j.1525-1470.2010.01088.x
- By:
- Publication type:
- Article
Bilateral Symmetrical Nodules on the Thumbs in a Female Patient: A Quiz.
- Published in:
- Acta Dermato-Venereologica, 2023, v. 103, p. 1, doi. 10.2340/actadv.v103.11143
- By:
- Publication type:
- Article
Generalized Skin Scaling in a Young Girl: A Quiz.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Loss‐of‐function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 301, doi. 10.1111/cge.14265
- By:
- Publication type:
- Article
New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima-Type Palmoplantar Keratosis.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2269, doi. 10.1038/jid.2014.80
- By:
- Publication type:
- Article
Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 284, doi. 10.1038/jid.2013.302
- By:
- Publication type:
- Article
Efficacy, safety, and cost‐effectiveness of all‐trans retinoic acid/Clobetasol Propionate Compound Ointment in the treatment of mild to moderate psoriasis vulgaris: A randomized, single‐blind, multicenter clinical trial.
- Published in:
- Dermatologic Therapy, 2018, v. 31, n. 5, p. N.PAG, doi. 10.1111/dth.12632
- By:
- Publication type:
- Article
Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 4, p. e323, doi. 10.1111/jdv.19598
- By:
- Publication type:
- Article
A novel KRT16 frameshift variant causing pachyonychia congenita by re‐initiation of translation.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 2, p. e166, doi. 10.1111/jdv.18580
- By:
- Publication type:
- Article
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
- Published in:
- Journal of Dermatology, 2017, v. 44, n. 1, p. 71, doi. 10.1111/1346-8138.13576
- By:
- Publication type:
- Article
ACTB Mutations Analysis and Genotype–Phenotype Correlation in Becker's Nevus.
- Published in:
- Biomedicines, 2021, v. 9, n. 12, p. 1879, doi. 10.3390/biomedicines9121879
- By:
- Publication type:
- Article
Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 11, p. 1292, doi. 10.1093/ced/llad232
- By:
- Publication type:
- Article
PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 9, p. 1052, doi. 10.1093/ced/llad167
- By:
- Publication type:
- Article
A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 7, p. 794, doi. 10.1093/ced/llad071
- By:
- Publication type:
- Article
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 6, p. 693, doi. 10.1093/ced/llad061
- By:
- Publication type:
- Article