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Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.
- Published in:
- Archives of Dermatological Research, 2023, v. 315, n. 2, p. 305, doi. 10.1007/s00403-022-02325-3
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- Publication type:
- Article
Guselkumab for Pityriasis Rubra Pilaris and Dysregulation of IL-23/IL-17 and NFkB Signaling: A Nonrandomized Trial.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 6, p. 641, doi. 10.1001/jamadermatol.2024.0257
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- Publication type:
- Article
Association of Somatic ATP2A2 Damaging Variants With Grover Disease.
- Published in:
- JAMA Dermatology, 2023, v. 159, n. 7, p. 745, doi. 10.1001/jamadermatol.2023.1139
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- Publication type:
- Article
Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.
- Published in:
- 2022
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- Publication type:
- journal article
Evaluation of Ixekizumab Treatment for Patients With Pityriasis Rubra Pilaris: A Single-Arm Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Association of the Severity of Alopecia With the Severity of Ichthyosis.
- Published in:
- 2019
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- Publication type:
- journal article
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.
- Published in:
- 2019
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- Publication type:
- journal article
Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child.
- Published in:
- 2019
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- Publication type:
- journal article
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
- Published in:
- 2017
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- Publication type:
- journal article
Incorrect Figure Alignment and Error in Figure Legend.
- Published in:
- 2017
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- Publication type:
- journal article
Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11.
- Published in:
- 2016
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- Publication type:
- journal article
Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy.
- Published in:
- 2015
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- Publication type:
- journal article
A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 6, p. 638, doi. 10.1001/jamadermatol.2014.5069
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- Publication type:
- Article
Cellular Basis of Secondary Infections and Impaired Desquamation in Certain Inherited Ichthyoses.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 3, p. 285, doi. 10.1001/jamadermatol.2014.3369
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- Publication type:
- Article
Phenotypic Expansion in Ichthyosis With Confetti.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 1, p. 15, doi. 10.1001/jamadermatol.2014.2525
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- Publication type:
- Article
Topical Tazarotene for the Treatment of Ectropion in Ichthyosis.
- Published in:
- JAMA Dermatology, 2013, v. 149, n. 5, p. 598, doi. 10.1001/jamadermatol.2013.239
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- Publication type:
- Article
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment.
- Published in:
- EMBO Molecular Medicine, 2024, v. 16, n. 9, p. 1986, doi. 10.1038/s44321-024-00104-3
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- Publication type:
- Article
Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas.
- Published in:
- Journal of Cutaneous Pathology, 2020, v. 47, n. 8, p. 681, doi. 10.1111/cup.13683
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- Publication type:
- Article
Mutations in KRT10 in epidermolytic acanthoma.
- Published in:
- Journal of Cutaneous Pathology, 2020, v. 47, n. 6, p. 524, doi. 10.1111/cup.13664
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- Publication type:
- Article
Histopathologic findings characteristic of CARD14‐associated papulosquamous eruption.
- Published in:
- Journal of Cutaneous Pathology, 2020, v. 47, n. 5, p. 425, doi. 10.1111/cup.13633
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- Publication type:
- Article
Review of genodermatoses with characteristic histopathology and potential diagnostic delay.
- Published in:
- Journal of Cutaneous Pathology, 2019, v. 46, n. 10, p. 756, doi. 10.1111/cup.13520
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- Publication type:
- Article
Solitary and multiple epidermolytic acanthoma: A demographic and clinical study of 131 cases.
- Published in:
- Journal of Cutaneous Pathology, 2019, v. 46, n. 5, p. 305, doi. 10.1111/cup.13422
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- Publication type:
- Article
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
- Published in:
- Journal of Cutaneous Pathology, 2015, v. 42, n. 11, p. 853, doi. 10.1111/cup.12551
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- Publication type:
- Article
Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
- Published in:
- Cutis, 2022, v. 110, n. 1, p. E5, doi. 10.12788/cutis.0571
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- Publication type:
- Article
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3525, doi. 10.1002/ajmg.a.62951
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- Publication type:
- Article
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2469, doi. 10.1002/ajmg.a.61362
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- Publication type:
- Article
Multilineage ACTB mutation in a patient with fibro‐osseous maxillary lesion and pilocytic astrocytoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2037, doi. 10.1002/ajmg.a.40475
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- Publication type:
- Article
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 71, doi. 10.1038/79208
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- Publication type:
- Article
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitisichthyosis-deafness (KID) syndrome: a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Clinical features in adults with acquired cutis laxa: a retrospective review.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 6, p. 800, doi. 10.1093/bjd/ljad043
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- Publication type:
- Article
Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings.
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- British Journal of Dermatology, 2023, v. 188, n. 4, p. 574, doi. 10.1093/bjd/ljac146
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- Publication type:
- Article
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 4, p. e312, doi. 10.1111/ijd.12227
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- Publication type:
- Article
Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib.
- Published in:
- Cancers, 2022, v. 14, n. 2, p. 413, doi. 10.3390/cancers14020413
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- Publication type:
- Article
Revertant mosaicism in genodermatoses.
- Published in:
- Cellular & Molecular Life Sciences, 2017, v. 74, n. 12, p. 2229, doi. 10.1007/s00018-017-2468-2
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- Publication type:
- Article
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1703, doi. 10.1172/JCI64415
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- Publication type:
- Article
Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning‐Feuerstein‐Mims syndrome.
- Published in:
- Pediatric Dermatology, 2024, v. 41, n. 3, p. 523, doi. 10.1111/pde.15523
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- Publication type:
- Article
In‐person validation of the Ichthyosis Scoring System.
- Published in:
- Pediatric Dermatology, 2024, v. 41, n. 2, p. 247, doi. 10.1111/pde.15508
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- Publication type:
- Article
Nagashima‐type palmoplantar keratoderma: Case series and two novel variants.
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- Pediatric Dermatology, 2023, v. 40, n. 5, p. 882, doi. 10.1111/pde.15265
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- Publication type:
- Article
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
- Published in:
- Pediatric Dermatology, 2022, v. 39, n. 6, p. 903, doi. 10.1111/pde.15094
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- Publication type:
- Article
Commentary on "Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes".
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 5, p. 1406, doi. 10.1111/pde.14809
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- Publication type:
- Article
CARD14‐associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 5, p. 1237, doi. 10.1111/pde.14779
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- Publication type:
- Article
Congenital verrucous plaques.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 5, p. 1329, doi. 10.1111/pde.14708
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- Publication type:
- Article
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 1, p. 31, doi. 10.1111/pde.14478
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- Publication type:
- Article
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 1, p. 164, doi. 10.1111/pde.14408
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- Publication type:
- Article
Tufted angioma with associated Kasabach‐Merritt phenomenon caused by somatic mutation in GNA14.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 6, p. 963, doi. 10.1111/pde.13979
- By:
- Publication type:
- Article
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 2, p. 160, doi. 10.1111/pde.13057
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- Publication type:
- Article
Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 2, p. e140, doi. 10.1111/pde.12769
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- Publication type:
- Article
Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 1, p. e6, doi. 10.1111/pde.12728
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- Publication type:
- Article
Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation.
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 2, p. e63, doi. 10.1111/pde.12263
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- Publication type:
- Article