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Neonatal diagnosis of circumferential skin creases

Birth defects research, 2023-07, Vol.115 (12), p.1169-1173

2023

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Non-invasive prenatal screening: A 20-year experience in Italy

European journal of obstetrics & gynecology and reproductive biology: X, 2019-07, Vol.3, p.100050-100050, Article 100050

2019

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Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

PloS one, 2017-12, Vol.12 (12), p.e0189235-e0189235

2017

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Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics (Basel), 2021-11, Vol.11 (12), p.2239

2021

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Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women

Prenatal diagnosis, 2012-12, Vol.32 (12), p.1147-1150

2012

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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1056-n/a

2020

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Optimal cut-offs for down syndrome contingent screening in a population of 10156 pregnant women

Prenatal diagnosis, 2012-12, Vol.32 (12), p.1147

2012

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Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

Human genetics, 2005-06, Vol.117 (1), p.92-98

2005

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First case of two supernumerary markers derived from chromosome 5 and chromosome 8

Molecular cytogenetics, 2022-06, Vol.15 (1), p.1-26, Article 26

2022

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Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

Journal of human genetics, 2007-01, Vol.52 (1), p.21-27

2007

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Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

Neurogenetics, 2006-11, Vol.7 (4), p.269-276

2006

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16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer

Gene, 2012-05, Vol.498 (2), p.328-331

2012

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Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

Pediatrics (Evanston), 2012-01, Vol.129 (1), p.e183

2012

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

Cytogenetic and genome research, 2015-01, Vol.146 (2), p.115-119

2015

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Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

Cytogenetic and genome research, 2019-01, Vol.158 (3), p.121-125

2019

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

Molecular syndromology, 2017-01, Vol.8 (1), p.42-44

2017

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

Journal of genetics, 2018-03, Vol.97 (1), p.311-317

2018

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Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

BMC medical genetics, 2014-07, Vol.15 (1), p.87-87, Article 87

2014

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16p13.3 microduplication syndrome: A new characteristic case without intellectual disability

Gene reports, 2016-09, Vol.4, p.218-221

2016

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Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

Molecular genetics & genomic medicine, 2016-11, Vol.4 (6), p.634-640

2016

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Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

American journal of medical genetics. Part A, 2008-01, Vol.146 (2), p.238-244

2008

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Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women

Prenatal diagnosis, 2011-11, Vol.31 (11), p.1077-1081

2011

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

Clinical dysmorphology, 2013-07, Vol.22 (3), p.132

2013

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

Clinical dysmorphology, 2012-07, Vol.21 (3), p.137

2012

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Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.959-964

2005

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Neonatal diagnosis of circumferential skin creases

Non-invasive prenatal screening: A 20-year experience in Italy

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

Optimal cut-offs for down syndrome contingent screening in a population of 10156 pregnant women

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

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

Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

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

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

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

16p13.3 microduplication syndrome: A new characteristic case without intellectual disability

Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women

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

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

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

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