G. Baldassarre

发表

Clinical and molecular characterization of 40 patients with Noonan syndrome.

G. Ferrero, M. Silengo, E. Biamino, 2008, European journal of medical genetics.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Birth defects research.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, International journal of cardiology.

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation

M. Tartaglia, G. Ferrero, M. Silengo, 2014, American journal of medical genetics. Part A.

Prenatal features of Noonan syndrome: prevalence and prognostic value

M. Tartaglia, G. Ferrero, M. Silengo, 2011, Prenatal diagnosis.

Fetal growth patterns in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2016, Clinical genetics.

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.

G. Ferrero, E. Riberi, A. Mussa, 2016, The Journal of pediatrics.

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

L. Peruzzi, G. Ferrero, M. Silengo, 2012, Pediatric Nephrology.

Phalangeal quantitative ultrasound in 1,719 children and adolescents with bone disorders

F. Terlizzi, A. Mussa, R. Lala, 2012, Osteoporosis International.

A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis

T. Pippucci, G. Ferrero, M. Silengo, 2010, European Journal of Pediatrics.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

M. Carella, G. Ferrero, A. Mussa, 2017, Pediatrics.

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

G. Ferrero, M. Silengo, A. Mussa, 2014, Pediatric Research.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Constitutional bone impairment in Noonan syndrome

G. Ferrero, A. Mussa, D. Carli, 2017, American journal of medical genetics. Part A.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

A. Doria, L. Foglia, G. Ferrero, 2013, Oncology reports.

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

M. Cubellis, G. Ferrero, A. Selicorni, 2015, European Journal of Human Genetics.

Case 1: An infant with heart failure (Case Presentation)

G. Ferrero, A. Pucci, F. Rutsch, 2009, Acta paediatrica.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

N. Fleischer, A. Bruselles, M. Tartaglia, 2019, Human mutation.

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features

M. Silengo, A. Mussa, G. Baldassarre, 2008, Acta paediatrica.

Genealogy of breastfeeding

A. Mussa, F. Porta, M. Spada, 2015, European Journal of Pediatrics.

The overlap between Sotos and Beckwith-Wiedemann syndromes.

G. Ferrero, M. Silengo, A. Mussa, 2010, The Journal of pediatrics.

Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome.

M. Silengo, E. Biamino, A. Mussa, 2008, Endocrine journal.

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

C. Isella, E. Medico, M. Tartaglia, 2012, Human mutation.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, Data in brief.

Case 1: An infant with heart failure (Discussion and Diagnosis)

G. Ferrero, A. Pucci, F. Rutsch, 2009 .

ECG in noonan syndrome: beyond the "normal abnormalities".

G. Ferrero, G. Baldassarre, G. Agnoletti, 2019, Minerva Cardioangiologica : a Journal on Cardiovascular Pathophysiology, Clinical Medicine and Therapy.

Determinants of thyrotropin rise in congenital hypothyroidism.

A. Mussa, F. Porta, G. Baldassarre, 2011, The Journal of pediatrics.

Comment on “Prenatal diagnosis and prognosis in Noonan syndrome”

G. Ferrero, M. Silengo, A. Mussa, 2013, Prenatal diagnosis.

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features

M. Silengo, A. Mussa, G. Baldassarre, 2008, Acta paediatrica.