List of works - Vanna Pecile

1q44-qter trisomy: clinical report and review of the literature.

scientific article published on February 2009

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

scientific article published in June 2016

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

scientific article published on 20 October 2009

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 March 2016

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

scientific article

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

scientific article published on 14 May 2014

Anthracyclines in Nijmegen breakage syndrome

scientific article published on 01 February 2003

CTNND2 deletion and intellectual disability.

scientific article published in April 2015

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

scientific article published on 28 October 2011

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

scientific article published in December 2005

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

article

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

scientific article published on 09 March 2012

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

scientific article published on 2 December 2011

De novobalanced chromosome rearrangements in prenatal diagnosis

scientific article published on 01 March 2009

Diagnosis of triploidy in metaphases from uncultured amniocytes

scientific article published on 01 January 2002

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

article

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

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

scientific article published on 18 September 2014

Fetal echocardiography: the role of the screening procedure

scientific article

Fragile X syndrome, mental retardation and macroorchidism

scientific article published on 01 October 1998

Glioma-associated stem cells: a novel class of tumor-supporting cells able to predict prognosis of human low-grade gliomas.

scientific article published on May 2014

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 ⬇️

scientific article published on April 1, 2012

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

scientific article published on 7 November 2012

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

scientific article

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

scientific article

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication

scientific article published on June 2009

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

scientific article published on 21 June 2011

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

scientific article published on 24 October 2012

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

scientific article published on 10 September 2007

Screening for fetal anomalies by ultrasound at 14 and 21 weeks

scientific article published on 01 December 1997

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report

scientific article published in October 2004

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

scientific article published on 02 May 2012

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

scientific article published on 20 January 2016

Treatment of Ph+ chronic myeloid leukemia by gamma interferon.

scientific article

Trisomy 12p and monosomy 4p: phenotype-genotype correlation

scientific article published in April 2009

List of works by Vanna Pecile

1q44-qter trisomy: clinical report and review of the literature.

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

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

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Anthracyclines in Nijmegen breakage syndrome

CTNND2 deletion and intellectual disability.

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

De novobalanced chromosome rearrangements in prenatal diagnosis

Diagnosis of triploidy in metaphases from uncultured amniocytes

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

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

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Fetal echocardiography: the role of the screening procedure

Fragile X syndrome, mental retardation and macroorchidism

Glioma-associated stem cells: a novel class of tumor-supporting cells able to predict prognosis of human low-grade gliomas.

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 ⬇️

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis

Screening for fetal anomalies by ultrasound at 14 and 21 weeks

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

Treatment of Ph+ chronic myeloid leukemia by gamma interferon.

Trisomy 12p and monosomy 4p: phenotype-genotype correlation