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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Science translational medicine, 2016-01, Vol.8 (321), p.321ra5

2016

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Fragile X syndrome: a review of associated medical problems

Pediatrics (Evanston), 2014-11, Vol.134 (5), p.995-1005

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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Arbaclofen in fragile X syndrome: results of phase 3 trials

Journal of neurodevelopmental disorders, 2017-06, Vol.9 (1), p.3-3, Article 3

2017

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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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Klinefelter syndrome and other sex chromosomal aneuploidies

Orphanet journal of rare diseases, 2006-10, Vol.1 (1), p.42-42, Article 42

2006

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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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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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Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Brain sciences, 2018-12, Vol.8 (12), p.214

2018

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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Journal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.1-10, Article 10

2022

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Neuropsychiatric and behavioral aspects of trisomy 21

Current psychiatry reports, 2007-04, Vol.9 (2), p.135-140

2007

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A new look at XXYY syndrome: Medical and psychological features

American journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1509-1522

2008

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Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

The Journal of pediatrics, 2014-06, Vol.164 (6), p.1292-1295

2014

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Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

Clinical pediatrics, 2007-09, Vol.46 (7), p.580-591

2007

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Methodology for Development of Indication-Specific Outcome Measures in Rare Disease Trials: An innovative research approach (P1.9-073)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Fragile X syndrome

European journal of human genetics : EJHG, 2008-06, Vol.16 (6), p.666-672

2008

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Development of a Conceptual Model to Inform a Clinical Outcome Assessment Strategy in Adolescents and Young Adults with Fragile X Syndrome (P1.9-067)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Brain Magnetic Resonance Imaging Findings in 49,XXXXY Syndrome

Pediatric neurology, 2008-06, Vol.38 (6), p.450-453

2008

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Clinical Unmet Needs and Burden in Fragile X Syndrome: Results of a Targeted Literature Review (P3.314)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

Case reports in genetics, 2013-01, Vol.2013 (2013), p.1-4

2013

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A Case of False Negative NIPT for Down Syndrome-Lessons Learned

Case reports in genetics, 2014-01, Vol.2014 (2014), p.1-3

2014

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Development of a conceptual model for variant late-infantile neuronal ceroid lipofuscinoses type 7 (CLN7)

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S37-S37

2020

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Sleep profiles in children with down syndrome

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1830-1835

2015

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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome

Pediatric neurology, 2020-09, Vol.110, p.30-41

2020

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A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs)

The patient : patient-centered outcomes research, 2019-02, Vol.12 (1), p.97-112

2019

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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Fragile X syndrome: a review of associated medical problems

Advances in the treatment of fragile X syndrome

Arbaclofen in fragile X syndrome: results of phase 3 trials

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

Klinefelter syndrome and other sex chromosomal aneuploidies

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

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

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Neuropsychiatric and behavioral aspects of trisomy 21

A new look at XXYY syndrome: Medical and psychological features

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

Methodology for Development of Indication-Specific Outcome Measures in Rare Disease Trials: An innovative research approach (P1.9-073)

Fragile X syndrome

Development of a Conceptual Model to Inform a Clinical Outcome Assessment Strategy in Adolescents and Young Adults with Fragile X Syndrome (P1.9-067)

Brain Magnetic Resonance Imaging Findings in 49,XXXXY Syndrome

Clinical Unmet Needs and Burden in Fragile X Syndrome: Results of a Targeted Literature Review (P3.314)

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

A Case of False Negative NIPT for Down Syndrome-Lessons Learned

Development of a conceptual model for variant late-infantile neuronal ceroid lipofuscinoses type 7 (CLN7)

Sleep profiles in children with down syndrome

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs)

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