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The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.423-428

2019

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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3554-3556

2021

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Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1881-1889

2020

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Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

Prenatal diagnosis, 2020-03, Vol.40 (4), p.470-480

2020

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Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3547-3553

2021

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Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome)

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2374-2381

2019

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International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.877-885

2018

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Speech and language development in children with 49,XXXXY syndrome

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3567-3575

2021

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Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3531-3540

2021

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Neurocognitive development and capabilities in boys with 49,XXXXY syndrome

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3541-3546

2021

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Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.974-986

2020

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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3557-3566

2021

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Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-02, Vol.163C (1), p.35-43

2013

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Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.501-508

2013

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10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.762-765

2017

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Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2251-2259

2015

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Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1464-1469

2014

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The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Genes, 2023-07, Vol.14 (7), p.1402

2023

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Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.1004-1005

2021

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Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-02, Vol.163C (1), p.27-34

2013

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The benefits and limitations of cell‐free DNA screening for 47, XXY (Klinefelter syndrome)

Prenatal diagnosis, 2017-05, Vol.37 (5), p.497-501

2017

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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Frontiers in genetics, 2022-01, Vol.12, p.808006

2022

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Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Acta Paediatrica, 2011-06, Vol.100 (6), p.861-865

2011

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Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-06, Vol.169C (2), p.150-157

2015

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Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-02, Vol.163C (1), p.44-49

2013

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The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy

Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome

Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome)

International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences

Speech and language development in children with 49,XXXXY syndrome

Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY

Neurocognitive development and capabilities in boys with 49,XXXXY syndrome

Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness

49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder

Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations

Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age

10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence

Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX

Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities

Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

The benefits and limitations of cell‐free DNA screening for 47, XXY (Klinefelter syndrome)

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY

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