Lista de obras -

A case of triploidy detected by crosstrimester test.

artículo científico publicado en 2012

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer

scientific article published on 28 January 2017

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

artículo científico publicado en 2002

Additional chromosomal abnormalities in Philadelphia-positive clone: adverse prognostic influence on frontline imatinib therapy: a GIMEMA Working Party on CML analysis.

artículo científico publicado en 2012

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

artículo científico publicado en 2016

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

artículo científico publicado en 2008

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy

artículo científico publicado en 2002

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

artículo científico publicado en 2018

Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)

scientific article published on 01 September 2003

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.

artículo científico publicado en 2016

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

artículo científico publicado en 2015

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

artículo científico publicado en 2013

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures

artículo científico publicado en 2015

Deletion of chromosome 21 disturbs human brain morphogenesis

artículo científico publicado en 2006

Deregulation of Sertoli and Leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

artículo científico publicado en 2015

Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis

artículo científico publicado en 2010

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

artículo científico publicado en 2012

Fluorescence in situ hybridization analysis of minimal residual disease and the relevance of the der(9) deletion in imatinib-treated patients with chronic myeloid leukemia

artículo científico publicado en 2006

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

scientific article published on 01 May 2006

Gene expression modifications in Wharton's Jelly mesenchymal stem cells promoted by prolonged in vitro culturing

artículo científico publicado en 2013

Genetic testing in couples undergoing assisted reproduction technique protocols.

artículo científico

Genetics of syndromic and nonsyndromic cleft lip and palate

artículo científico

Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation

artículo científico publicado en 2018

Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells

artículo científico publicado en 2014

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene

artículo científico publicado en 2005

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

artículo científico publicado en 2004

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

artículo científico publicado en 2010

Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol

artículo científico publicado en 2009

Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia

artículo científico

Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate

artículo científico publicado en 2006

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

artículo científico publicado en 2013

Male infertility: role of genetic background

artículo científico publicado en 2007

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

artículo científico publicado en 2011

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

article

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

artículo científico publicado en 2010

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli

article

Nuclear phospholipase C beta1, regulation of the cell cycle and progression of acute myeloid leukemia

artículo científico

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson

artículo científico publicado en 2012

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

artículo científico publicado en 2017

Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion

artículo científico publicado en 2010

Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result

artículo científico publicado en 2005

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

scientific article published on 01 September 2010

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

artículo científico publicado en 2012

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

article

Lista de obras de

A case of triploidy detected by crosstrimester test.

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

Additional chromosomal abnormalities in Philadelphia-positive clone: adverse prognostic influence on frontline imatinib therapy: a GIMEMA Working Party on CML analysis.

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures

Deletion of chromosome 21 disturbs human brain morphogenesis

Deregulation of Sertoli and Leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

Fluorescence in situ hybridization analysis of minimal residual disease and the relevance of the der(9) deletion in imatinib-treated patients with chronic myeloid leukemia

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

Gene expression modifications in Wharton's Jelly mesenchymal stem cells promoted by prolonged in vitro culturing

Genetic testing in couples undergoing assisted reproduction technique protocols.

Genetics of syndromic and nonsyndromic cleft lip and palate

Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation

Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol

Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia

Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

Male infertility: role of genetic background

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli

Nuclear phospholipase C beta1, regulation of the cell cycle and progression of acute myeloid leukemia

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion

Trisomy 18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy