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Effect of congenital heart defects on language development in toddlers with Down syndrome

Journal of intellectual disability research, 2013-09, Vol.57 (9), p.887-892

2013

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Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY

Developmental disabilities research reviews, 2009, Vol.15 (4), p.328-332

2009

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Effect of congenital heart defects on language development in toddlers with D own syndrome

Journal of intellectual disability research, 2013-09, Vol.57 (9), p.887-892

2013

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136 ADAPTIVE AND MALADAPTIVE BEHAVIOR OF MALES WITH SEX CHROMOSOME ANEUPLOIDY

Journal of investigative medicine, 2006-01, Vol.54 (1), p.S280-S280

2006

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Noninvasive screening tools for Down syndrome: a review

International journal of women's health, 2013-01, Vol.5 (default), p.125-131

2013

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Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome

American journal of medical genetics. Part A, 2005-03, Vol.133A (3), p.240-247

2005

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Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Clinical pediatrics, 2005-06, Vol.44 (5), p.371-381

2005

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Klinefelter syndrome and its variants: An update and review for the primary pediatrician

Clinical pediatrics, 2001-12, Vol.40 (12), p.639-651

2001

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Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

The Journal of pediatrics, 2004-12, Vol.145 (6), p.819-825

2004

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Midline defects in FG syndrome: Does tethered spinal cord contribute to the phenotype?

The Journal of pediatrics, 2005-04, Vol.146 (4), p.537-541

2005

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22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

Clinical pediatrics, 2004-01, Vol.43 (1), p.43-53

2004

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Behavioral Phenotypes of Males with Sex Chromosome Aneuploidy

Journal of developmental and behavioral pediatrics, 2005-12, Vol.26 (6), p.464-465

2005

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Fragile X Syndrome and X-Linked Intellectual Disability

Reference Module in Biomedical Research, 2014

2014

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Advances in the treatment of fragile X syndrome

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.378-390

2009

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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (4), p.949-956

2015

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A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

Proceedings of the National Academy of Sciences - PNAS, 2015-11, Vol.112 (47), p.E6553-E6561

2015

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Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3029-3041

2017

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The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

Neurology, 2021-02, Vol.96 (7), p.e1024

2021

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A 3′ untranslated region variant inFMR1eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

Proceedings of the National Academy of Sciences - PNAS, 2015-11, Vol.112 (47), p.E6553-E6561

2015

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Object-related generativity in children with Down syndrome

Research in developmental disabilities, 2014-12, Vol.35 (12), p.3379-3385

2014

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Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study

American journal of medical genetics. Part A, 2019-01, Vol.179 (1), p.85-93

2019

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Corrigendum to “Object-related generativity in children with Down syndrome” [Res. Dev. Disabil. 35 (2014) 3379–3385]

Research in developmental disabilities, 2015-10, Vol.45-46, p.431-432

2015

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Independent role for presynaptic FMRP revealed by anFMR1missense mutation associated with intellectual disability and seizures

Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (4), p.949-956

2015

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Novel treatment for Fabry disease: IV administration of plant derived alpha-gal-A enzyme safety and efficacy interim report

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S59-S59

2016

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Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3011-3017

2008

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Effect of congenital heart defects on language development in toddlers with Down syndrome

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY

Effect of congenital heart defects on language development in toddlers with D own syndrome

136 ADAPTIVE AND MALADAPTIVE BEHAVIOR OF MALES WITH SEX CHROMOSOME ANEUPLOIDY

Noninvasive screening tools for Down syndrome: a review

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Klinefelter syndrome and its variants: An update and review for the primary pediatrician

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

Midline defects in FG syndrome: Does tethered spinal cord contribute to the phenotype?

22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

Behavioral Phenotypes of Males with Sex Chromosome Aneuploidy

Fragile X Syndrome and X-Linked Intellectual Disability

Advances in the treatment of fragile X syndrome

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome

A 3′ untranslated region variant inFMR1eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

Object-related generativity in children with Down syndrome

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study

Corrigendum to “Object-related generativity in children with Down syndrome” [Res. Dev. Disabil. 35 (2014) 3379–3385]

Independent role for presynaptic FMRP revealed by anFMR1missense mutation associated with intellectual disability and seizures

Novel treatment for Fabry disease: IV administration of plant derived alpha-gal-A enzyme safety and efficacy interim report

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

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