The categories of cutaneous mosaicism: A proposed classification

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novelRASA1mutation presenting with prenatal non-immune hydrops fetalis

(2015) Rachael T. Overcash et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oculoectodermal syndrome is a mosaic RASopathy associated withKRASalterations

(2015) Jacqueline D. Peacock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

(2015) Keith A. Choate et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetics of melanocytic nevi

(2015) Mi Ryung Roh et al.   Pigment Cell & Melanoma Research

Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

(2014) Dimitra Kiritsi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study

(2014) Nicole A. Weitz et al.   PEDIATRIC DERMATOLOGY

Nilotinib Is More Potent than Imatinib for Treating Plexiform Neurofibroma In Vitro and In Vivo

(2014) Jiang Wei et al.   PLoS One

Genetic odyssey to generate marked clones inDrosophilamosaics

(2014) Ruth Griffin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular evidence of type 2 mosaicism in Gorlin syndrome

(2013) A. Torrelo et al.   BRITISH JOURNAL OF DERMATOLOGY

RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

(2013) Nicole Revencu et al.   HUMAN MUTATION

Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell

(2013) Leopold Groesser et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

(2013) Veronica A. Kinsler et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Phacomatosis Pigmentokeratotica Is a “Pseudodidymosis”

(2013) Rudolf Happle   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

(2013) R. Pilarski et al.   JNCI-Journal of the National Cancer Institute

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PTEN Hamartoma of Soft Tissue

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

(2012) Dimitra Kiritsi et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations

(2012) Anna M.G. Pasmooij et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Mechanisms and consequences of widespread random monoallelic expression

(2012) Andrew Chess   NATURE REVIEWS GENETICS

Advances in understanding chromosome silencing by the long non-coding RNA Xist

(2012) T. Sado et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease

(2011) R. Fölster-Holst et al.   BRITISH JOURNAL OF DERMATOLOGY

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

(2011) M Fernanda Amary et al.   NATURE GENETICS

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

(2011) Twinkal C Pansuriya et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

(2010) Carles Garcia-Linares et al.   HUMAN MUTATION

Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors

(2010) C. Hafner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Monoallelic expression on autosomes may explain an unusual heritable form of pigmentary mosaicism: a historical case revisited

(2009) R. Happle   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Segmental hemangioma: The misuse of a term

(2008) M. Michael Cohen Jr.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An epidermal nevus syndrome with cerebral involvement caused by a mosaicFGFR3mutation

(2008) Alejandro García-Vargas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas

(2008) Katharina Steinmann et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY