List of works - C Rossi

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

scientific article published on 04 May 2017

Clinical and molecular characterization of 40 patients with Noonan syndrome.

scientific article

Drug synergism or antagonism in the induction of diploid meiotic products in Saccharomyces cerevisiae

scientific article published on 01 November 1984

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

scientific article published on 11 June 2013

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)

scientific article published on 03 October 2013

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

scientific article

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

scientific article

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

scientific article published on 23 January 2014

Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia

scientific article published on 27 July 2012

Molecular and biological characterization of deformed wing virus of honeybees (Apis mellifera L.)

scientific article

Mutations of the Igbeta gene cause agammaglobulinemia in man.

scientific article published on 20 August 2007

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

scientific article

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

scientific article published on 20 October 2014

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

scientific article published on 31 July 2015

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

scientific article

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role

scientific article published on 27 July 2017

Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene

article

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

scientific article published on 14 February 2012

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

scientific article published on 6 January 2015

List of works by C Rossi

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Drug synergism or antagonism in the induction of diploid meiotic products in Saccharomyces cerevisiae

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia

Molecular and biological characterization of deformed wing virus of honeybees (Apis mellifera L.)

Mutations of the Igbeta gene cause agammaglobulinemia in man.

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

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

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role

Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis