Associated Papers
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines.
Liu H et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis.
Palacios-Diaz RD et al.
Acta Dermato-venereologica, 2024
Electronic DNA Analysis of CSF Cell-free Tumor DNA to Quantify Multi-gene Molecular Response in Pediatric High-grade Glioma.
Bruzek AK et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
Motegi S et al.
Acta Dermato-venereologica, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Scalp melanoma in a woman with LEOPARD syndrome: possible implication of PTPN11 signaling in melanoma pathogenesis.
Cheng YP et al.
Journal of the American Academy of Dermatology, 2013
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
Kato H et al.
International Journal of Dermatology, 2010
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Kalev I et al.
European Journal of Pediatrics, 2010
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
Osawa R et al.
The British Journal of Dermatology, 2009
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
Limongelli G et al.
American Journal of Medical Genetics. Part A, 2008
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.
Yoshida R et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2008
Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation.
Seishima M et al.
The British Journal of Dermatology, 2007
Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.
Guo K et al.
Pigment Cell & Melanoma Research, 0