Lista de obras -

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

artículo científico publicado en 2017

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

artículo científico publicado en 2020

A study of the treatment of Rett syndrome with folate and betaine

artículo científico publicado en 2009

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

artículo científico publicado en 2011

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

artículo científico publicado en 2015

Assessment of Caregiver Inventory for Rett Syndrome

artículo científico publicado en 2017

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

artículo científico publicado en 2009

Behavioral profiles in Rett syndrome: Data from the natural history study

artículo científico publicado en 2018

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

scientific article published on 01 June 2019

Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome

artículo científico publicado en 2008

Brief report: MECP2 mutations in people without Rett syndrome

artículo científico publicado en 2014

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

artículo científico publicado en 2016

Characteristic behaviors associated with gait of individuals with Rett syndrome

scientific article published on 15 September 2020

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

artículo científico publicado en 2007

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

scientific article published on 15 March 2019

Childhood insomnia: why Chris can't sleep

artículo científico publicado en 2004

Consensus guidelines on managing Rett syndrome across the lifespan

scientific article published on 13 September 2020

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes

artículo científico publicado en 2018

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

artículo científico publicado en 2013

Developmental delay in Rett syndrome: data from the natural history study

artículo científico publicado en 2014

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

scientific article published on 27 March 2019

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

artículo científico publicado en 2016

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

artículo científico publicado en 2006

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

article

Evidence based sleep medicine--is pediatric sleep medicine ready?

artículo científico publicado en 2005

Fractional calcium absorption is increased in girls with Rett syndrome

artículo científico publicado en 2006

Gastrointestinal Health Questionnaire (GHQ) for Rett Syndrome: Tool Development

scientific article published on 22 September 2020

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

artículo científico publicado en 2012

Gastrostomy placement improves height and weight gain in girls with Rett syndrome

artículo científico publicado en 2009

Growth failure and outcome in Rett syndrome: specific growth references

artículo científico publicado en 2012

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

scientific article published on 03 May 2019

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

artículo científico publicado en 2015

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

artículo científico publicado en 2006

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Kinematics associated with treadmill walking in Rett syndrome

artículo científico publicado en 2019

Longevity in Rett syndrome: analysis of the North American Database

artículo científico publicado en 2010

Longitudinal course of epilepsy in Rett syndrome and related disorders

artículo científico publicado en 2016

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

artículo científico publicado en 2016

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

artículo científico publicado en 2009

Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

artículo científico publicado en 2014

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

artículo científico publicado en 2020

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

artículo científico publicado en 2014

Multisystem comorbidities in classic Rett syndrome: a scoping review

artículo científico publicado en 2020

Neurophysiology of Rett syndrome

artículo científico publicado en 2002

Neurophysiology of Rett syndrome

scientific article published on 01 September 2005

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome

artículo científico publicado en 2019

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

artículo científico publicado en 2011

Phenotypic features in MECP2 duplication syndrome: Effects of age

scientific article published on 10 November 2020

Profiling scoliosis in Rett syndrome

artículo científico publicado en 2010

Pubertal development in Rett syndrome deviates from typical females

artículo científico publicado en 2014

Rett syndrome diagnostic criteria: lessons from the Natural History Study

artículo científico publicado en 2010

Rett syndrome: North American database

artículo científico publicado en 2007

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

artículo científico publicado el 1 de diciembre de 2010

Rett syndrome: discrimination of typical and variant forms

artículo científico publicado en 1987

Rett syndrome: of girls and mice--lessons for regression in autism

artículo científico publicado en 2004

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

artículo científico publicado en 2017

Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome

scientific article published on 14 December 2018

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

artículo científico publicado en 2015

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

scientific article published on 07 December 2018

The course of awake breathing disturbances across the lifespan in Rett syndrome

artículo científico publicado en 2018

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

artículo científico publicado en 2015

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

artículo científico publicado en 2005

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

artículo científico publicado en 2011

Lista de obras de

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

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

A study of the treatment of Rett syndrome with folate and betaine

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

Assessment of Caregiver Inventory for Rett Syndrome

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Behavioral profiles in Rett syndrome: Data from the natural history study

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome

Brief report: MECP2 mutations in people without Rett syndrome

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

Characteristic behaviors associated with gait of individuals with Rett syndrome

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

Childhood insomnia: why Chris can't sleep

Consensus guidelines on managing Rett syndrome across the lifespan

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Developmental delay in Rett syndrome: data from the natural history study

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

Evidence based sleep medicine--is pediatric sleep medicine ready?

Fractional calcium absorption is increased in girls with Rett syndrome

Gastrointestinal Health Questionnaire (GHQ) for Rett Syndrome: Tool Development

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

Gastrostomy placement improves height and weight gain in girls with Rett syndrome

Growth failure and outcome in Rett syndrome: specific growth references

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Kinematics associated with treadmill walking in Rett syndrome

Longevity in Rett syndrome: analysis of the North American Database

Longitudinal course of epilepsy in Rett syndrome and related disorders

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Multisystem comorbidities in classic Rett syndrome: a scoping review

Neurophysiology of Rett syndrome

Neurophysiology of Rett syndrome

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

Phenotypic features in MECP2 duplication syndrome: Effects of age

Profiling scoliosis in Rett syndrome

Pubertal development in Rett syndrome deviates from typical females

Rett syndrome diagnostic criteria: lessons from the Natural History Study

Rett syndrome: North American database

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

Rett syndrome: discrimination of typical and variant forms

Rett syndrome: of girls and mice--lessons for regression in autism

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

The course of awake breathing disturbances across the lifespan in Rett syndrome

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

Vitamin D deficiency is prevalent in girls and women with Rett syndrome