List of works - Renata Bocciardi

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia

scientific article published on 01 June 2008

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

scientific article published on 5 May 2017

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

scientific article published on 01 March 2012

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

article

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

scientific article

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

scientific article published on November 2006

C-type natriuretic peptide and overgrowth

scientific article published on 27 February 2009

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

scientific article

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

scientific article

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

scientific article

Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe

scientific article published on 01 November 1993

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

scientific article published on 01 March 1995

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

scientific article published in October 1994

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

scientific article published in April 1999

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation

scientific article published on 24 November 2015

Frequency of RET mutations in long- and short-segment Hirschsprung disease

scientific article published on 01 January 1997

Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men

scientific article published on 14 December 2020

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis ⬇️

scientific article published on October 1, 2010

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

scientific article

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

scientific article published on 01 January 1994

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

scientific article published on 28 April 2016

Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva

scientific article published on 31 October 2017

Hirschsprung associated GDNF mutations do not prevent RET activation.

scientific article

Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype.

scientific article

Human monocytes express amphiregulin and heregulin growth factors upon activation

scientific article published on 01 March 1997

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

scientific article published on 16 November 2015

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

scientific article

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

scientific article published on 7 March 2019

Is there a biological basis for treatment of fibrodysplasia ossificans progressiva with rosiglitazone? Potential benefits and undesired effects.

scientific article

Loss of function effect of RET mutations causing Hirschsprung disease.

scientific article published on May 1995

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

scientific article

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

scientific article

Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo.

scientific article published in February 2007

New insights into central nervous system involvement in FOP: Case report and review of the literature.

scientific article published on 4 August 2015

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

scientific article

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

scientific article published in July 2007

P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development

scientific article published on 01 December 2019

Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation.

scientific article published on 6 October 2017

Sequence and characterisation of the RET proto-oncogene 5' flanking region: analysis of retinoic acid responsiveness at the transcriptional level.

scientific article published in December 1997

Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion

scientific article published on 19 July 2019

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva

scientific article published on 26 March 2018

The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice.

scientific article published in October 2006

The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck

scientific article published on 01 November 1997

The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis

scientific article

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

scientific article published on 14 April 2017

List of works by Renata Bocciardi

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

C-type natriuretic peptide and overgrowth

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis ⬇️

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva

Hirschsprung associated GDNF mutations do not prevent RET activation.

Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype.

Human monocytes express amphiregulin and heregulin growth factors upon activation

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

Is there a biological basis for treatment of fibrodysplasia ossificans progressiva with rosiglitazone? Potential benefits and undesired effects.

Loss of function effect of RET mutations causing Hirschsprung disease.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo.

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development

Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation.

Sequence and characterisation of the RET proto-oncogene 5' flanking region: analysis of retinoic acid responsiveness at the transcriptional level.

Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva

The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice.

The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck

The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].