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Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

Cytogenetic and genome research, 2017, Vol.152 (2), p.81-89

2017

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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Prenatal diagnosis, 2015-08, Vol.35 (8), p.725-734

2015

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Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

PloS one, 2021-07, Vol.16 (7), p.e0253866-e0253866

2021

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Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis

Journal of clinical medicine, 2021-10, Vol.10 (20), p.4739

2021

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Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women

Journal of clinical medicine, 2024-08, Vol.13 (16), p.4888

2024

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Editorial: Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics

Frontiers in genetics, 2021-12, Vol.12, p.828202-828202

2021

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A Randomized Controlled Trial on the Influence of Prenatal Counseling on the Attitudes and Preferences Toward Invasive Prenatal Testing Among Women in Their First Trimester of Pregnancy (INVASIVE)

Frontiers in genetics, 2020-11, Vol.11, p.561283-561283

2020

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Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

Virchows Archiv : an international journal of pathology, 2021-08, Vol.479 (2), p.413-418

2021

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Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

Prenatal diagnosis, 2012-01, Vol.32 (1), p.1-2

2012

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Role of ovarian reserve markers, antimüllerian hormone and antral follicle count, as aneuploidy markers in ongoing pregnancies and miscarriages

Fertility and sterility, 2015-05, Vol.103 (5), p.1221-1227.e2

2015

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Reply: cfDNA testing in recurrent pregnancy loss: a new step in the right way but still raw for the clinical area

Human reproduction (Oxford), 2021-02, Vol.36 (3), p.829-830

2021

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Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings

Journal of clinical medicine, 2023-12, Vol.13 (1), p.181

2023

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Couple screening for recessively inherited disorders

Journal of medical screening, 2023-06, Vol.30 (2), p.55-61

2023

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A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

Frontiers in genetics, 2021-01, Vol.11, p.561720-561720

2021

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The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole

Diagnostics (Basel), 2021-09, Vol.11 (10), p.1811

2021

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Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

Fertility and sterility, 2010-12, Vol.94 (7), p.2564-2568

2010

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Genetic syndromes associated with isolated fetal growth restriction

Prenatal diagnosis, 2020-03, Vol.40 (4), p.432-446

2020

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Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Journal of clinical medicine, 2022-07, Vol.11 (13), p.3570

2022

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Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

American journal of medical genetics. Part A, 2008-01, Vol.146A (1), p.66-70

2008

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Maternal IgM antibody status in confirmed fetal cytomegalovirus infection detected by sonographic signs

Prenatal diagnosis, 2012-09, Vol.32 (9), p.817-821

2012

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Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes

Fertility and sterility, 2009-07, Vol.92 (1), p.393.e5-393.e9

2009

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Genetics of fetal growth restriction. Apparently Isolated can be syndromic

Prenatal diagnosis, 2020-06

2020

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Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1215-1221

2021

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Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy

Prenatal diagnosis, 2009-01, Vol.29 (1), p.62-68

Borrell, Antoni

2009

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Localization of arginine decarboxylase in tobacco plants

Physiologia plantarum, 2004-01, Vol.120 (1), p.84-92

2004

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Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women

Editorial: Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics

A Randomized Controlled Trial on the Influence of Prenatal Counseling on the Attitudes and Preferences Toward Invasive Prenatal Testing Among Women in Their First Trimester of Pregnancy (INVASIVE)

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

Role of ovarian reserve markers, antimüllerian hormone and antral follicle count, as aneuploidy markers in ongoing pregnancies and miscarriages

Reply: cfDNA testing in recurrent pregnancy loss: a new step in the right way but still raw for the clinical area

Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings

Couple screening for recessively inherited disorders

A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

Genetic syndromes associated with isolated fetal growth restriction

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

Maternal IgM antibody status in confirmed fetal cytomegalovirus infection detected by sonographic signs

Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes

Genetics of fetal growth restriction. Apparently Isolated can be syndromic

Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss

Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy

Localization of arginine decarboxylase in tobacco plants

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