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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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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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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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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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Prosody in narratives: An exploratory study with children with sex chromosomes trisomies

Speech communication, 2024-09, Vol.163, p.103107, Article 103107

2024

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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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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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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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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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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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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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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

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

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

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”

Prosody in narratives: An exploratory study with children with sex chromosomes trisomies

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

Maternal input to children with sex chromosome trisomies

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

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

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

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

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

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