Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella, +12

The American Journal of Human Genetics

Somatic VariantGenetic DisorderGeneticsPathogenesisFunctional Consequences +7

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, +28

Nature Genetics

Noonan-like SyndromeLoose Anagen HairGeneticsPathologyMolecular Genetics +1

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti, +24

Human Mutation

EngineeringGermline Braf DefectsGeneticsPathologyPhenotypic Spectrum +14

A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998)

Antonella Olivieri, Maria A. Stazi, P Mastroiacovo, +8

The Journal of Clinical Endocrinology & Metabolism

Developmental AnomalyFrequent MalformationsAdditional Congenital MalformationsIodine Deficiency DisordersCh Etiology +12

Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis

Monica Dentice, Viviana Cordeddu, Annamaria Rosica, +17

The Journal of Clinical Endocrinology & Metabolism

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, +27

Human Mutation

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Marco Tartaglia, Viviana Cordeddu, Hong Chang, +8

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathologyPaternal Germline Origin +6

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, B. Redeker, Emilia Stellacci, +24

Nature Genetics

Genetic DisorderGeneticsInherited Metabolic DiseaseMolecular GeneticsMedicine

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, +10

European Journal of Human Genetics

Mendelian DisorderCardio-facio-cutaneous SyndromeGenetic DisorderGeneticsGenotype–phenotype Correlations +7

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, +35

Human Mutation

Developmental BiologySomatic VariantMendelian DisorderGenetic DisorderGenetics +12