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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Journal of investigative dermatology, 2017-11, Vol.137 (11), p.2344-2353

2017

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Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes

Journal of investigative dermatology, 2021-08, Vol.141 (8), p.1964-1974

2021

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Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

Journal of Medical Genetics, 2016-05, Vol.53 (5), p.289-295

2016

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Nagashima‐type palmoplantar keratoderma and malignant melanoma in Japanese patients

British journal of dermatology (1951), 2019-02, Vol.180 (2), p.415-416

2019

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A case of Carvajal syndrome presenting with dilated cardiomyopathy

Cardiology in the young, 2024-05, Vol.34 (5), p.1131-1133

2024

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A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

JAMA dermatology (Chicago, Ill.), 2014-03, Vol.150 (3), p.303

2014

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Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature

Clinical and experimental dermatology, 2020-04, Vol.45 (3), p.395-398

2020

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A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review

BMC cardiovascular disorders, 2022-02, Vol.22 (1), p.41-41, Article 41

2022

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Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation

Journal of the European Academy of Dermatology and Venereology, 2019-05, Vol.33 (5), p.e219-e221

2019

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A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis

Acta dermato-venereologica, 2019-12, Vol.99 (13), p.1311-1312

2019

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Melanocytic Nevi, Solar Keratoses, and Divergent Pathways to Cutaneous Melanoma

JNCI : Journal of the National Cancer Institute, 2003-06, Vol.95 (11), p.806-812

2003

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A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene

Circulation. Cardiovascular imaging, 2021-10, Vol.14 (10), p.e013059-e013059

2021

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Olmsted Syndrome: Case Report of Nursing Management of Premature Twins

Advances in neonatal care, 2022-08, Vol.22 (4), p.333-340

2022

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AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

Journal of cutaneous medicine and surgery, 2020-01, Vol.24 (1), p.28-32

2020

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Eccrine porocarcinoma in a patient with Schöpf–Schulz–Passarge syndrome

Clinical and experimental dermatology, 2019-12, Vol.44 (8), p.938-939

2019

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Development of tripe palms and soles in a patient with long pre‐existing systemic mastocytosis and newly developed non‐small cell lung cancer

Journal of the European Academy of Dermatology and Venereology, 2018-04, Vol.32 (4), p.e151-e153

2018

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Severely Itching Dermatitis and Palmoplantar Keratoderma as First Manifestation of T-cell Prolympho-cytic Leukaemia

Acta dermato-venereologica, 2019-12, Vol.99 (13), p.1297-1298

2019

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Case of amyloidosis cutis dyschromica with palmoplantar keratoderma

Australasian journal of dermatology, 2019-11, Vol.60 (4), p.319-320

2019

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A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence

EJD. European journal of dermatology, 2018-07, Vol.28 (4), p.519-520

2018

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Ocular manifestations of genetic skin disorders

Clinics in dermatology, 2016-03, Vol.34 (2), p.242-275

2016

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Cole disease: a case report and literature review

Journal of the European Academy of Dermatology and Venereology, 2015-12, Vol.29 (12), p.2492-2493

2015

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SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda

British journal of dermatology (1951), 2011-01, Vol.164 (1), p.47-53

2011

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Hereditary Hearing Impairment with Cutaneous Abnormalities

Genes, 2020-12, Vol.12 (1), p.43

2020

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Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

International journal of dermatology, 2019-06, Vol.58 (6), p.742-744

2019

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Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

Clinical and experimental dermatology, 2016-08, Vol.41 (6), p.632-635

2016

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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

Nagashima‐type palmoplantar keratoderma and malignant melanoma in Japanese patients

A case of Carvajal syndrome presenting with dilated cardiomyopathy

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review

Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation

A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis

Melanocytic Nevi, Solar Keratoses, and Divergent Pathways to Cutaneous Melanoma

A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene

Olmsted Syndrome: Case Report of Nursing Management of Premature Twins

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

Eccrine porocarcinoma in a patient with Schöpf–Schulz–Passarge syndrome

Development of tripe palms and soles in a patient with long pre‐existing systemic mastocytosis and newly developed non‐small cell lung cancer

Severely Itching Dermatitis and Palmoplantar Keratoderma as First Manifestation of T-cell Prolympho-cytic Leukaemia

Case of amyloidosis cutis dyschromica with palmoplantar keratoderma

A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence

Ocular manifestations of genetic skin disorders

Cole disease: a case report and literature review

SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda

Hereditary Hearing Impairment with Cutaneous Abnormalities

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

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