Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico

A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus ⬇️

artículo científico publicado el 1 de agosto de 1997

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2010

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Clinical and molecular characterization of 40 patients with Noonan syndrome.

artículo científico publicado en 2008

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

ECG in noonan syndrome: beyond the "normal abnormalities"

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Fetal growth patterns in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2016

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Hair anomalies as a sign of mitochondrial disease ⬇️

artículo científico publicado el 24 de abril de 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

Myhre's syndrome in a girl with normal intelligence

artículo científico publicado en 2005

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico

Nomenclature and definition in asymmetric regional body overgrowth.

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Periventricular nodular heterotopia in Smith-Magenis syndrome

artículo científico publicado en 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.

artículo científico publicado en 2006

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.

artículo científico publicado en 2007

Prevalence of beckwith-wiedemann syndrome in North West of Italy

article

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

artículo científico publicado en 2016

Progressive extreme heterotopic calcification

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Remittent hyperammonemia in congenital portosystemic shunt.

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado el 1 de noviembre de 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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

X-linked situs abnormalities result from mutations in ZIC3 ⬇️

artículo científico publicado el 1 de noviembre de 1997

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

artículo científico publicado en 2014

Lista de obras de

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

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

A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus ⬇️

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