Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle (original) (raw)

Phacomatosis Pigmentokeratotica

Paolo Marchettini

Archives of Dermatology, 1998

View PDFchevron_right

Phacomatosis pigmentokeratotica without Extracutaneous Abnormalities

Nuran Alli

Dermatology, 2003

View PDFchevron_right

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex”

Silvia Morlino

American Journal of Medical Genetics Part A, 2012

View PDFchevron_right

Phacomatosis pigmentokeratotica: Two cases series of a neurocutaneous rarity from Indonesia

Retno Danarti

Journal of thee Medical Sciences (Berkala Ilmu Kedokteran)

View PDFchevron_right

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Gary Green

Nature, 2009

View PDFchevron_right

‘Congenital follicular melanocytic naevi’: a more appropriate term for spotted grouped pigmented naevi

Pooja Arora

Clinical and Experimental Dermatology, 2012

View PDFchevron_right

Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy

ahmad reza Taheri

Clinical and Experimental Dermatology, 2007

View PDFchevron_right

High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum

Alain Sarasin

Proceedings of the National Academy of Sciences, 1999

View PDFchevron_right

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients

Chyi-Chia R Lee

Pigment Cell & Melanoma Research, 2014

View PDFchevron_right

Clinical and histological intercorrelations in pigmented naevi indicating potential melanoma precursor lesions

Ingar Holme

APMIS, 1988

View PDFchevron_right

Frequency, clinical and dermoscopic features of benign papillomatous melanocytic naevi (Unna type)

Verena Ahlgrimm-siess

British Journal of Dermatology, 2009

View PDFchevron_right

Melanocyte mutation in halo naevus and malignant melanoma?

Claire Bennett

British Journal of Dermatology, 1979

View PDFchevron_right

Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome

Lilian bomme Ousager

British Journal of Dermatology, 2012

View PDFchevron_right

Naevus spilus-type congenital melanocytic naevus associated with a novel NRAS codon 61 mutation

Clemens Schiestl

British Journal of Dermatology, 2016

View PDFchevron_right

Dermoscopy of tumours arising in naevus sebaceous: a morphological study of 58 cases

Giuseppe Argenziano

View PDFchevron_right

More Than Skin Deep: A Case of Nevus Sebaceous Associated With Basal Cell Carcinoma Transformation

Robert Hage

Cureus, 2020

View PDFchevron_right

Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi

Ralf Bastrop

Journal of medical genetics, 1999

View PDFchevron_right

Bilateral naevus of Ota with choroidal melanoma and diffuse retinal pigmentation in a dark skinned person

John Grigg

British Journal of Ophthalmology, 2005

View PDFchevron_right

Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata

roni amorim

Cutis

View PDFchevron_right

Variant of phacomatosis pigmentokeratotica

Hwayoung Park

The Journal of Dermatology, 2010

View PDFchevron_right

Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis

Manabu Natsumeda

Acta Neuropathologica Communications, 2024

View PDFchevron_right

Cytogenetic study on eleven cutaneous neoplasms and two pre-tumoral lesions from xeroderma pigmentosum patients

Bernard Dutrillaux

International Journal of Cancer, 1989

View PDFchevron_right

Hereditary punctate keratoderma: clinical, pathology, treatment and follow-up

Dario Didona

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia, 2017

View PDFchevron_right

Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

Giovanni Ponti

Oncology Letters, 2012

View PDFchevron_right

Concurrent occurrence of Seborrheic Keratosis and Melanocytic Nevus in the same lesion

Piotr Brzezinski

Our Dermatology Online, 2014

View PDFchevron_right

Value of MLH1 and MSH2 Mutations in the Appearance of Muir–Torre Syndrome Phenotype in HNPCC Patients Presenting Sebaceous Gland Tumors or Keratoacanthomas

Giovanni PONTI

Journal of Investigative Dermatology, 2006

View PDFchevron_right

Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

Dragana Josifova

British Journal of Dermatology, 2019

View PDFchevron_right

Cancer-associated genodermatoses: Skin neoplasms as clues to hereditary tumor syndromes

Giovanni Ponti

Critical Reviews in Oncology/Hematology, 2013

View PDFchevron_right

Mucinous Naevus: A Rare Variant of Connective Tissue Naevus

Mary MATHEW

Journal of Interdisciplinary Histopathology, 2013

View PDFchevron_right

Pigmented tumor in the nostril

Mourad MOKNI

Dermatology Practical & Conceptual, 2001

View PDFchevron_right

Defective DNA mismatch repair activity is common in sebaceous neoplasms, and may be an ineffective approach to screen for Lynch syndrome

Anu Lamba

Familial Cancer, 2015

View PDFchevron_right

The spectrum ofpatched mutations in a collection of Australian basal cell carcinomas

Waranya Boonchai

Human Mutation, 2000

View PDFchevron_right

Tumors associated with nevus sebaceous

Didem Yazganoglu

Journal Der Deutschen Dermatologischen Gesellschaft, 2006

View PDFchevron_right

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

Jill Hunter

Neurology Genetics, 2019

View PDFchevron_right

Desmoplastic hairless hypopigmented naevus: a variant of giant congenital melanocytic naevus

SAEZ SANCHEZ RAMON

British Journal of Dermatology, 2003

View PDFchevron_right