Publications by authors named "Carmelo Schepis"

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Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis

Mol Genet Genomic Med· September 2022

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Impressive reddish nodules with neoplastic-like appearance in a patient with Alzheimer's disease.
Maddalena Siragusa, Maria Lentini, Carmelo Schepis

Indian J Dermatol Venereol Leprol· November 2021

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A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis

Orphanet J Rare Dis· October 2021

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An odd precocious case of progressive osseous heteroplasia.
Carmelo Schepis, Maria Lentini, Francesco Calì

Ital J Dermatol Venerol· June 2021

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The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis

Acta Derm Venereol· June 2021

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Cognitive Impairment in Inpatients with Prurigo Nodularis and Psychiatric Comorbidities.
Giuseppe Lanza, Filomena Irene Ilaria Cosentino, Raffaele Ferri, Bartolo Lanuzza, Maddalena Siragusa, Carmelo Schepis

Int J Environ Res Public Health· June 2021

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A small blackberry-like nodule on the nipple in a pregnant affected by tuberous sclerosis complex.
Carmelo Schepis, Maddalena Siragusa, Maria Bottitta, Maria Lentini

G Ital Dermatol Venereol· December 2020

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A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
Francesco Calì, Pinella Failla, Mirella Vinci, Maddalena Siragusa, Carmelo Schepis

Dermatol Online J· July 2020

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Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.
Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Mirella Vinci, Francesco Calì

G Ital Dermatol Venereol· April 2020

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Facies: the value of an old diagnostic tip in pediatric dermatology.
Carmelo Schepis, Corrado Romano

G Ital Dermatol Venereol· October 2018

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An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.
Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Valeria Chiavetta, Giuseppa Ruggeri

Eur J Dermatol· February 2018

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Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).
Manuela Pennisi, Giuseppe Lanza, Mariagiovanna Cantone, Carmelo Schepis, Raffaele Ferri

J Clin Neurol· October 2017

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Plica neuropathica (matting hair) in an autistic patient.
Maddalena Siragusa, Stefania Giusto, Raffaele Ferri, Antonio Centofanti, Carmelo Schepis

J Dermatol· September 2017

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Psoriasis and alopecia areata in a Down syndrome patient: a Renbök phenomenon.
Carmelo Schepis, Maddalena Siragusa, Rudolf Happle

Eur J Dermatol· June 2017

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Prominent neurological involvement in Dercum disease.
Mariagiovanna Cantone, Giuseppe Lanza, Manuela Pennisi, Rita Bella, Carmelo Schepis

J Neurol· April 2017

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Francesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione, Angelo Selicorni, Carmelo Schepis

Eur J Med Genet· February 2017

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Long faun tail: a rare cutaneous marker of spinal dysraphism.
Carmelo Schepis, Maurizio Elia, Carmelo Amato

G Ital Dermatol Venereol· October 2016

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A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.
Valeria Chiavetta, Corrado Romano, Francesco Calì, Giuseppa Ruggeri, Maddalena Siragusa, Carmelo Schepis

G Ital Dermatol Venereol· October 2016

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Mixed vascular nevus syndrome: a report of four new cases and a literature review.
Martino Ruggieri, Agata Polizzi, Serena Strano, Carmelo Schepis, Massimiliano Morano

Quant Imaging Med Surg· October 2016

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: a literature review and report of five new cases.
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano

Quant Imaging Med Surg· October 2016

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Self-inflicted lesions of the mouth and lips in mentally retarded young subjects.
Maddalena Siragusa, Raffaele Ferri, Roberto Russo, Maria Lentini, Carmelo Schepis

Eur J Dermatol· February 2015

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Agminated lentiginosis in a patient with ring chromosome 21.
Maddalena Siragusa, Maria Lentini, Carmelo Schepis

Eur J Dermatol· June 2013

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Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome).
Maria Lentini, Donatella Greco, Carmelo Schepis

Acta Derm Venereol· January 2013

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Cutaneous findings in children with intellectual disabilities.
Carmelo Schepis

J Dermatol· January 2013

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PTEN gene: a model for genetic diseases in dermatology.
Corrado Romano, Carmelo Schepis

ScientificWorldJournal· October 2012

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