List of works - Giovanni Battista Ferrero

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

scientific article

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

scientific article published on 03 July 2015

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.

scientific article published on 18 June 2009

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

scientific article published in December 2015

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

scientific article published on 29 July 2009

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome

scientific article published on 01 October 2002

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

scientific article published on 30 June 2006

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

scientific article

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

scientific article published on 20 June 2017

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele

scientific article published on 08 August 2018

Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization

scientific article published on 12 August 2019

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

scientific article

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

scientific article published on 21 July 2017

Case 1: An infant with heart failure (case presentation)

scientific article published on 01 January 2009

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome

scientific article published on 14 October 2020

Clinical and molecular characterization of 40 patients with Noonan syndrome.

scientific article

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

scientific article published on 09 December 2020

Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

scientific article

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome

scientific article published on 25 June 2019

Constitutional bone impairment in Noonan syndrome.

scientific article published in March 2017

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

scientific article published on 31 August 2007

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

scientific article published on 2 December 2017

ECG in noonan syndrome: beyond the "normal abnormalities"

scientific article published on 18 March 2019

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

scientific article published on 21 April 2016

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Fetal growth patterns in Beckwith-Wiedemann syndrome.

scientific article published on 9 February 2016

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

scientific article published on 11 June 2013

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

scientific article published on 23 December 2017

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

scientific article

Hair anomalies as a sign of mitochondrial disease ⬇️

scientific article published on April 24, 2003

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

scientific article

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

scientific article published on 04 March 2008

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

scientific article published on 3 November 2017

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

scientific article

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome

scientific article published on 14 January 2019

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

scientific article published on 11 December 2006

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

scientific article published in November 2002

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

scientific article published in April 2005

Myhre's syndrome in a girl with normal intelligence

scientific article published in 2005

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

scientific article published on 18 March 2019

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

scientific article published on 30 March 2011

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

scientific article published on 21 October 2011

Nomenclature and definition in asymmetric regional body overgrowth.

scientific article published on 5 May 2017

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

scientific article published on 19 July 2017

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

scientific article published on December 2002

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts

scientific article published on 29 March 2017

Patellofemoral Joint Arthroplasty: Our Experience in Isolated Patellofemoral and Bicompartmental Arthritic Knees.

scientific article published on 15 November 2016

Periventricular nodular heterotopia in Smith-Magenis syndrome

scientific article published on 24 September 2014

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

scientific article published on 24 July 2019

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

scientific article

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

scientific article published on 20 October 2014

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

scientific article published on 6 June 2007

Prevalence of beckwith-wiedemann syndrome in North West of Italy

article

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

scientific article

Progressive extreme heterotopic calcification

scientific article published on 17 May 2013

Pulsed Electromagnetic Fields Improve Tenogenic Commitment of Umbilical Cord-Derived Mesenchymal Stem Cells: A Potential Strategy for Tendon Repair-An In Vitro Study

scientific article published on 30 July 2018

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

scientific article

Remittent hyperammonemia in congenital portosystemic shunt.

scientific article published on 18 July 2009

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

scientific article published on 15 February 2018

Risk factors for shoulder pain in patients with spinal cord injury: a multicenter study.

scientific article published on 23 May 2015

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

scientific article

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue.

scientific article

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.

scientific article published in March 2017

Six-year experience with antegrade intramedullary nail for the treatment of proximal and diaphyseal humeral fractures

scientific article published on 20 October 2018

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

scientific article

Syndromic Disorders Caused by Disturbed Human Imprinting

scientific article published on 10 April 2019

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

scientific article published on 01 November 1991

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

scientific article published on 14 September 2011

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum

scientific article published on 04 October 2019

The overlap between Sotos and Beckwith-Wiedemann syndromes

scientific article published on 14 April 2010

Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

scientific article published on January 2013

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

scientific article published on 12 January 2019

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

scientific article published on 14 February 2012

Truncus arteriosus and isochromosome 8q

scientific article published on 01 March 2005

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

scientific article published on 25 April 2016

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

scientific article published on 20 February 2018

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

scientific article published on 28 August 2014

List of works by Giovanni Battista Ferrero

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

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

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.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele

Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization

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

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

Case 1: An infant with heart failure (case presentation)

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome

Constitutional bone impairment in Noonan syndrome.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

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

ECG in noonan syndrome: beyond the "normal abnormalities"

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

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

Hair anomalies as a sign of mitochondrial disease ⬇️

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

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Myhre's syndrome in a girl with normal intelligence

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

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Nomenclature and definition in asymmetric regional body overgrowth.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts

Patellofemoral Joint Arthroplasty: Our Experience in Isolated Patellofemoral and Bicompartmental Arthritic Knees.

Periventricular nodular heterotopia in Smith-Magenis syndrome

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

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

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

Progressive extreme heterotopic calcification

Pulsed Electromagnetic Fields Improve Tenogenic Commitment of Umbilical Cord-Derived Mesenchymal Stem Cells: A Potential Strategy for Tendon Repair-An In Vitro Study

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Remittent hyperammonemia in congenital portosystemic shunt.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Risk factors for shoulder pain in patients with spinal cord injury: a multicenter study.

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

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue.

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.

Six-year experience with antegrade intramedullary nail for the treatment of proximal and diaphyseal humeral fractures

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Syndromic Disorders Caused by Disturbed Human Imprinting

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum

The overlap between Sotos and Beckwith-Wiedemann syndromes

Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

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

Truncus arteriosus and isochromosome 8q

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.