Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

(2018) D. Bessis et al.   BRITISH JOURNAL OF DERMATOLOGY

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice

(2018) Angela Peron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mosaic Turner syndrome shows reduced penetrance in an adult population study

(2018) Marcus A. Tuke et al.   GENETICS IN MEDICINE

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

(2017) Paul Kuentz et al.   GENETICS IN MEDICINE

Genetic Severity Score predicts clinical phenotype in NF2

(2017) Dorothy Halliday et al.   JOURNAL OF MEDICAL GENETICS

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules

(2017) Shay Ben-Shachar et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation

(2016) Juxiang Cao et al.   JOURNAL OF CLINICAL INVESTIGATION

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex

(2016) Neera Nathan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The categories of cutaneous mosaicism: A proposed classification

(2015) Rudolf Happle   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

(2015) Melanie Spyra et al.   GENES CHROMOSOMES & CANCER

Mosaic Neurofibromatosis Type 1: A Systematic Review

(2015) Maria Teresa García-Romero et al.   PEDIATRIC DERMATOLOGY

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

(2015) Magdalena E. Tyburczy et al.   PLoS Genetics

Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study

(2013) S. Boronat et al.   CLINICAL GENETICS

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

(2013) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior

(2013) Elizabeth A. Normand et al.   NEURON

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Darcy A. Krueger et al.   PEDIATRIC NEUROLOGY

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

CT Grading of Lung Disease in Lymphangioleiomyomatosis

(2012) Jianhua Yao et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)

(2009) D G R Evans et al.   JOURNAL OF MEDICAL GENETICS