List of works - Cristina Gervasini

A new report of Cornelia de Lange syndrome associated with split hand and feet

scientific article published on 18 September 2012

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

scientific article published on 25 March 2014

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

scientific article published on 25 March 2015

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

scientific article published on 07 February 2022

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

scientific article published on 17 February 2014

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

scientific article (publication date: August 2007)

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

scientific article

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

scientific article published on 01 May 2010

DNA Methylation in the Diagnosis of Monogenic Diseases

scientific article published on 26 March 2020

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

scientific article published on June 2009

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

scientific article published on 08 July 2020

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

scientific article published on 26 February 2019

Functional analysis of splicing mutations in exon 7 of NF1 gene

scientific article

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

scientific article published on 2 October 2014

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

scientific article published on 18 June 2018

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations

scientific article published on 28 August 2019

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

scientific article published on 3 April 2013

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

scientific article published on 21 May 2013

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

scientific article

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

scientific article

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

scientific article published on 7 October 2011

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

article

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

scientific article published on 12 November 2014

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

scientific article published on 22 February 2012

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

scientific article published on 8 January 2013

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

scientific article

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

scientific article published on 22 April 2014

Potential impact of fetal genotype on maternal blood pressure during pregnancy

scientific article published on 01 March 2015

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

scientific article published on 19 August 2009

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

scientific article published in March 2007

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

scientific article

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

scientific article

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

scientific article published in October 2010

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

scientific article published on 16 September 2008

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

scientific article published in December 2010

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

article

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

scientific article published on 20 June 2020

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

article

Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report

scientific article published on 29 July 2014

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

scientific article published on 9 April 2006

List of works by Cristina Gervasini

A new report of Cornelia de Lange syndrome associated with split hand and feet

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

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

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

DNA Methylation in the Diagnosis of Monogenic Diseases

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

Functional analysis of splicing mutations in exon 7 of NF1 gene

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

Potential impact of fetal genotype on maternal blood pressure during pregnancy

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations