C. Leoni

发表

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

M. Digilio, B. Dallapiccola, A. Bruselles, 2014, European Journal of Human Genetics.

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

E. Mercuri, M. Tartaglia, C. Leoni, 2009, American journal of medical genetics. Part A.

Behavioral Profile in RASopathies

E. Mercuri, M. Digilio, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

M. Tartaglia, G. Chillemi, C. Leoni, 2021, Genes.

Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study

M. Tartaglia, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review

M. Tartaglia, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Visual function in Noonan and LEOPARD syndrome.

E. Mercuri, M. Tartaglia, C. Leoni, 2008, Neuropediatrics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Induced pluripotent stem cells for modeling Smith–Magenis syndrome

M. Pennuto, A. Vescovi, L. Bernardini, 2022, Current Progress in iPSC Disease Modeling.

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

M. Tartaglia, C. Leoni, G. Zampino, 2009, American journal of medical genetics. Part A.

Multidisciplinary Management of Costello Syndrome: Current Perspectives

C. Leoni, G. Zampino, Germana Viscogliosi, 2022, Journal of multidisciplinary healthcare.

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review

E. Scarano, G. Marca, C. Vollono, 2014, American journal of medical genetics. Part A.

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

J. Crown, C. Leoni, G. Zampino, 2019, American journal of medical genetics. Part A.

Giant subcortical heterotopia involving the temporo-parieto-occipital region: A challenging cause of drug-resistant epilepsy

C. Leoni, L. Massimi, F. Guzzetta, 2009, Epilepsy Research.

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

M. Pane, E. Mercuri, A. D’Amico, 2022, European Journal of Pediatrics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Dystonia in Costello syndrome.

V. Di Lazzaro, M. Tartaglia, F. Capone, 2012, Parkinsonism & related disorders.

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

M. Tartaglia, C. Vollono, C. Leoni, 2019, American journal of medical genetics. Part A.

RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype

M. Tartaglia, C. Leoni, G. Zampino, 2022, Pediatric Research.

Decreased bone mineral density in Costello syndrome.

M. Tartaglia, D. Stevenson, C. Leoni, 2014, Molecular genetics and metabolism.

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

E. Eichler, N. Brunetti‐Pierri, Yiping Shen, 2022, Science advances.

Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study

C. Leoni, G. Zampino, F. Pilato, 2021, Acta radiologica.

Increased levels of glial cell-derived neurotrophic factor in CSF of infants with SMA.

C. Leoni, C. Brahe, G. Conti, 2009, Pediatric neurology.

SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction

R. Carrozzo, B. Dallapiccola, M. Tartaglia, 2022, Clinical genetics.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

Respiratory and gastrointestinal dysfunctions associated with auriculo‐condylar syndrome and a homozygous PLCB4 loss‐of‐function mutation

G. Marca, C. Leoni, G. Zampino, 2016, American journal of medical genetics. Part A.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

H. Cavé, H. Kayserili, M. Tartaglia, 2022, Human molecular genetics.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

M. Tartaglia, C. Leoni, G. Zampino, 2020, Orphanet Journal of Rare Diseases.

Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome

M. Tartaglia, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

B. Dallapiccola, M. Tartaglia, A. Tzschach, 2020, Clinical genetics.

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation

C. Leoni, G. Zampino, F. Emma, 2018, American journal of medical genetics. Part A.

Pulmonary artery sling in a 22‐month‐old boy with 18q deletion syndrome: A rare but possible association

C. Leoni, G. Zampino, G. Savino, 2022, Echocardiography.

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

C. Leoni, C. Simone, M. Zollino, 2019, Molecular genetics & genomic medicine.

Psychopathological features in Noonan syndrome.

P. Pasqualetti, M. Digilio, M. Tartaglia, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

P. Grant, N. Brunetti‐Pierri, D. Calame, 2022, American journal of human genetics.

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

M. Tartaglia, C. Leoni, G. Zampino, 2016, The Journal of pediatrics.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

Molecular advances, clinical management, and treatment opportunities in RASopathies

G. Neri, C. Leoni, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

C. Leoni, G. Zampino, V. Giorgio, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Dermatological manifestations, management, and care in RASopathies

G. Neri, C. Leoni, M. I. Kavamura, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

R. Tenconi, V. Saletti, C. Leoni, 2022, Journal of Medical Genetics.

Bone health in RASopathies

D. Stevenson, C. Leoni, Germana Viscogliosi, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

One case of anetoderma post‐vitamin K1 injection in a newborn

K. Peris, C. Leoni, G. Zampino, 2020, International journal of dermatology.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

E. I. Pierpont, M. Tartaglia, A. Roberts, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Drooling outcome measures in paediatric disability: a systematic review

E. Sforza, C. Leoni, A. Selicorni, 2022, European Journal of Pediatrics.

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

M. Digilio, C. Leoni, G. Zampino, 2023, Genes.

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

D. Conrad, A. Reymond, A. Hale, 2020, American journal of human genetics.

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

L. Goracci, G. Mazzoccoli, D. Raimondo, 2022, Cell Death & Disease.

Neural tube defects and atypical deletion on 22q11.2

A. Rope, B. Krock, C. Leoni, 2014, American journal of medical genetics. Part A.

Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles

M. Genuardi, M. Tartaglia, C. Leoni, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

C. Leoni, G. Ferrero, G. Cocchi, 2023, Cancers.

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

C. Leoni, G. Ferrero, G. Cocchi, 2022, Clinical genetics.

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome

P. Pasqualetti, M. Digilio, M. Tartaglia, 2019, Brain sciences.

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

R. Carrozzo, M. Tartaglia, G. Chillemi, 2021, Human molecular genetics.

Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome.

C. Leoni, G. Zampino, V. Giorgio, 2020, Immunology letters.

Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment

C. Leoni, G. Zampino, S. Casa, 2020, Italian Journal of Pediatrics.

Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A

A. Bruselles, M. Tartaglia, C. Leoni, 2016, American journal of medical genetics. Part A.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Enhanced human brain associative plasticity in Costello syndrome

E. Mercuri, V. Di Lazzaro, M. Tartaglia, 2010, The Journal of physiology.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

S. Robertson, M. Digilio, F. Kortüm, 2020, European journal of medical genetics.

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

M. Tartaglia, C. Leoni, G. Zampino, 2020, Immunology letters.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

C. Leoni, G. Zampino, L. Massimi, 2023, Genes.

Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature

M. Digilio, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

E. Mercuri, M. Tartaglia, C. Leoni, 2021, Genes.

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

E. Scarano, C. Vollono, G. Della Marca, 2012, Sleep and Breathing.

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith–Magenis syndrome)

G. Marca, C. Vollono, L. Bernardini, 2010, American journal of medical genetics. Part A.

Wolf–Hirschhorn syndrome with improvement of renal function

C. Leoni, G. Zampino, A. Gatto, 2010, American journal of medical genetics. Part A.

Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes

A. Bruselles, M. Tartaglia, G. Chillemi, 2021, American journal of medical genetics. Part A.

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

K. Gripp, D. Stevenson, C. Leoni, 2015, American journal of medical genetics. Part A.

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome

A. Fasano, C. Leoni, G. Zampino, 2020, Brain sciences.

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia

C. Leoni, G. Zampino, F. Pilato, 2022, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

The dark side of COVID‐19: The need of integrated medicine for children with special care needs

C. Leoni, G. Zampino, A. Selicorni, 2020, American journal of medical genetics. Part A.

Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making

M. Genuardi, M. Tartaglia, C. Leoni, 2022, Clinical genetics.

Posterior reversible encephalopathy syndrome in children, epiphenomenon of a known or unknown disease

C. Leoni, A. Alexandre, M. Ruggiero, 2014, Journal of Pediatric Neuroradiology.

Metabolic profiling of Costello syndrome: Insights from a single-center cohort.

M. Tartaglia, C. Leoni, G. Zampino, 2022, European journal of medical genetics.

Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.

C. Leoni, G. Zampino, V. Giorgio, 2023, International journal of language & communication disorders.

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment

C. Leoni, G. Zampino, C. De Rose, 2019, Italian journal of pediatrics.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2013, Journal of Medical Genetics.

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

C. Vollono, C. Leoni, G. Zampino, 2022, American journal of medical genetics. Part A.

Recognition Memory in Noonan Syndrome

G. Carlesimo, M. Digilio, M. Tartaglia, 2021, Brain sciences.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Karlyne M. Reilly, K. Walsh, B. Korf, 2016, American journal of medical genetics. Part A.

Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade

E. Mercuri, M. Digilio, M. Tartaglia, 2011, Behavior genetics.

Quantitative acoustical analysis of genetic syndromes in the number listing task

A. Lanatà, C. Leoni, G. Zampino, 2023, Biomed. Signal Process. Control..

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

M. Tartaglia, C. Leoni, V. Giorgio, 2023, European Journal of Pediatrics.

The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review

A. Gasbarrini, C. Leoni, G. Zampino, 2023, Applied Sciences.

Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet

A. Gasbarrini, C. Leoni, G. Zampino, 2022, Nutrients.

The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome

M. Tartaglia, C. Leoni, G. Zampino, 2023, Genes.

Efficacy and safety of growth hormone therapy in children with Noonan syndrome.

C. Leoni, G. Zampino, D. Rigante, 2023, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Impact of Costello syndrome on growth patterns

C. Leoni, G. Zampino, V. Giorgio, 2020, American journal of medical genetics. Part A.

RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype

M. Tartaglia, C. Leoni, G. Zampino, 2022, Pediatric Research.

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation

M. Tartaglia, V. Lazzaro, F. Capone, 2016, Brain Stimulation.

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation

C. Leoni, G. Zampino, M. Zollino, 2022, American journal of medical genetics. Part A.

Multimodal ocular imaging in Proteus syndrome.

C. Leoni, G. Zampino, A. Salerni, 2022, European journal of ophthalmology.

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

C. Leoni, G. Zampino, M. Rigante, 2023, Italian Journal of Pediatrics.