Lista de obras - Vanna Pecile - Dominio Público Uruguay

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

artículo científico publicado en 2009

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Anthracyclines in Nijmegen breakage syndrome

artículo científico publicado en 2003

CTNND2 deletion and intellectual disability.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2011

De novobalanced chromosome rearrangements in prenatal diagnosis

artículo científico publicado en 2009

Diagnosis of triploidy in metaphases from uncultured amniocytes

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

Fetal echocardiography: the role of the screening procedure

artículo científico publicado en 1990

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Screening for fetal anomalies by ultrasound at 14 and 21 weeks

artículo científico publicado en 1997

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

artículo científico publicado en 2004

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Treatment of Ph+ chronic myeloid leukemia by gamma interferon.

artículo científico publicado en 1989

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

artículo científico publicado en 2009

Lista de obras de 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

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