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Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies

Journal of developmental and behavioral pediatrics, 2022-04, Vol.43 (3), p.e197

2022

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Prosodic features of maternal input to children with sex chromosome trisomies

First language, 2022-10, Vol.42 (5), p.613-627

2022

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Orphanet journal of rare diseases, 2009-11, Vol.4 (1), p.25-25, Article 25

2009

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study

PloS one, 2017-10, Vol.12 (10), p.e0185371-e0185371

2017

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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.613-619

2013

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Before Is Better: Innovative Multidisciplinary Preconception Care in Different Clinical Contexts

Journal of clinical medicine, 2023-10, Vol.12 (19), p.6352

2023

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Web-based surveillance of public information needs for informing preconception interventions

PloS one, 2015-04, Vol.10 (4), p.e0122551-e0122551

2015

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Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

BMC medical genetics, 2017-10, Vol.18 (1), p.115-9, Article 115

2017

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Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1551-1559

2015

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Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

Fertility and sterility, 2008-04, Vol.89 (4), p.800-808

2008

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Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography

Journal of Pregnancy, 2011-01, Vol.2011, p.368067-9

2011

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Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Italian journal of pediatrics, 2012-10, Vol.38 (1), p.52-52

2012

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Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Orphanet journal of rare diseases, 2011-02, Vol.6 (1), p.7-7, Article 7

2011

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A comment on “clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making”

Prenatal diagnosis, 2018-12, Vol.38 (13), p.1129-1130

2018

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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

European journal of medical genetics, 2009-07, Vol.52 (4), p.218-223

2009

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Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures

Developmental neurorehabilitation, 2022-07, Vol.25 (5), p.337-348

2022

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Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1255-1257

2021

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Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

Genetics in medicine, 2018-11, Vol.20 (11), p.1483-1484

2018

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Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

Twin research and human genetics, 2008-06, Vol.11 (3), p.352-356

2008

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Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2873-2879

2013

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Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth

International journal of environmental research and public health, 2022-02, Vol.19 (3), p.1831

2022

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Maternal input to children with sex chromosome trisomies

International journal of language & communication disorders, 2020-09, Vol.55 (5), p.724-733

2020

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COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Journal of medical genetics, 2016-07, Vol.53 (7), p.481-487

2016

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Why women do not ask for information on preconception health? A qualitative study

BMC pregnancy and childbirth, 2017-01, Vol.17 (1), p.5-5, Article 5

2017

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Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies

Prosodic features of maternal input to children with sex chromosome trisomies

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Before Is Better: Innovative Multidisciplinary Preconception Care in Different Clinical Contexts

Web-based surveillance of public information needs for informing preconception interventions

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

A comment on “clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making”

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures

Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth

Maternal input to children with sex chromosome trisomies

COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Why women do not ask for information on preconception health? A qualitative study

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