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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS signaling owing to PTPN11, SOS1Expand
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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen-activated protein kinase (MAPK)Expand
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu1, Elia Di Schiavi2, Len A Pennacchio3,4, Avi Ma’ayan5, Anna Sarkozy6, Valentina Fodale1,7, Serena Cecchetti8, Alessio Cardinale9, Joel Martin4, Wendy Schackwitz4, Anna Lipzen4,Expand
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  • Open Access
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, andExpand
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects,Expand
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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematologic defects. NS is an autosomalExpand
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Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
Noonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000–2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenitalExpand
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  • Open Access
A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
Keratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical,Expand
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Leopard syndrome
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of thisExpand
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  • Open Access
KBG syndrome in a cohort of Italian patients
KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined.Expand
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