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Author Details

Cesare Rossi
1984
54
24
PMIDPaper TitleJournal TitlePublished Year
36845402Case report: Functional characterization of a novel intronic variant in patients with CHARGE syndrome.2023
36351286Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.Journal of Pediatric Endocrinology and Metabolism2023
37588986Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.2023
37231696Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis.2023
35343501[Sudden cardiac death in young people and in adults: primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna].Giornale Italiano di Cardiologia2022
35444050Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.Open Heart2022
34597909Sudden Unexpected Death after a mild trauma: The complex forensic interpretation of cardiac and genetic findings.Forensic Science International2021
32221274Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic.Italian Journal of Dermatology and Venereology2021
34626534SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.Am J Hum Genet2021
32721402Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.Am J Hum Genet2020
32326958A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.Italian Journal of Pediatrics2020
33167350Results and Clinical Interpretation of Germline Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.Cancers2020
31266032The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.Respiration2019
29394990Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.Am J Hum Genet2018
28074573Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.Hum Mutat2017
29049801Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.Interactive Cardiovascular and Thoracic Surgery2017
28471317A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.Ophthalmic Genetics2017
26173643Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.Hum Mutat2015
25846317Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.Am J Med Genet A2015
25575603Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Hearing Research2015
26227443Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.American Journal of Medical Genetics, Part A2015
24705357Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.Hum Mol Genet2014
25331583Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.American Journal of Medical Genetics, Part A2014
24458587Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.American Journal of Medical Genetics, Part A2014
23756559Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.Oncology Reports2013
24124081GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).American Journal of Medical Genetics, Part A2013
22253195Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.Hum Mutat2012
22834886Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia.Br J Haematol2012
21946454[Craniofrontonasal syndrome: genetic aspects and description of a clinical case].Minerva Pediatrica2011
21387466SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.Hum Mutat2011
21772136Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.Clinical Dysmorphology2011
21744363Prenatal features of Noonan syndrome: prevalence and prognostic value.Prenatal Diagnosis2011
19966803A restricted spectrum of NRAS mutations causes Noonan syndrome.Nat Genet2010
20619386Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Am J Hum Genet2010
19206169Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.Hum Mutat2009
19684605Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.Nat Genet2009
18678287Clinical and molecular characterization of 40 patients with Noonan syndrome.European Journal of Medical Genetics2008
17234733Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene.Clinical Chemistry2007
17709424Mutations of the Igbeta gene cause agammaglobulinemia in man.Journal of Experimental Medicine2007
17603483Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.Nat Genet2007
17410177Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.Genes and Immunity2007
16641291Molecular and biological characterization of deformed wing virus of honeybees (Apis mellifera L.).Journal of Virology2006
17009341Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.Prenatal Diagnosis2006
9694329Detection of rabbit haemorrhagic disease virus (RHDV) by in situ hybridisation with a digoxigenin labelled RNA probe.Journal of Virological Methods1998
8970986Detection and preliminary characterization of a new rabbit calicivirus related to rabbit hemorrhagic disease virus but nonpathogenic.Journal of Virology1996
8533459Antigenicity of the rabbit hemorrhagic disease virus studied by its reactivity with monoclonal antibodies.Virus Research1995
74741373C-like protease of rabbit hemorrhagic disease virus: identification of cleavage sites in the ORF1 polyprotein and analysis of cleavage specificity.Journal of Virology1995
7637026Two independent pathways of expression lead to self-assembly of the rabbit hemorrhagic disease virus capsid protein.Journal of Virology1995
8027346Detection and identification of Leptospira interrogans serovars by PCR coupled with restriction endonuclease analysis of amplified DNA.Journal of Clinical Microbiology1994
8083986Identification and characterization of a 3C-like protease from rabbit hemorrhagic disease virus, a calicivirus.Journal of Virology1994
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