D G Glaze
Affiliation: Baylor College of Medicine
- Epilepsy and the natural history of Rett syndromeD G Glaze
The Blue Bird Circle Rett Center, Baylor College of Medicine, Houston, TX 77030, USA
Neurology 74:909-12. 2010..Epilepsy has been reported in 50%-80%. Previous reports were based on small sample sizes or parent-completed questionnaires, or failed to consider the impact of specific MECP2 mutations...
- Rett syndrome: of girls and mice--lessons for regression in autismDaniel G Glaze
The Blue Bird Circle Rett Center, Baylor College of Medicine, Houston, Texas 77030, USA
Ment Retard Dev Disabil Res Rev 10:154-8. 2004..Although the genetic background and certain clinical features differ in RTT and autism, a similar mechanism involving MeCP2 regulation and expression may contribute to regression...
- Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndromeJ L Neul
Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Room 319C, One Baylor Plaza, Houston, TX 77030, USA
Neurology 70:1313-21. 2008..To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2...
- Gastrostomy placement improves height and weight gain in girls with Rett syndromeKathleen J Motil
USDA ARS Children s Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA
J Pediatr Gastroenterol Nutr 49:237-42. 2009..Growth failure and undernutrition complicate the clinical course of girls with Rett syndrome (RTT). These abnormalities are, in part, the consequence of oral motor dysfunction and inadequate dietary intake...
- Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndromeKathleen J Motil
USDA ARS Children s Nutrition Research Center, Departments of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
Pediatr Res 64:435-9. 2008..This study identified associations among low BMD, fractures, and scoliosis, and underscored the need for better understanding of the molecular mechanisms of MECP2 in the regulation of bone mineral metabolism...
- Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsT Sahoo
Associate Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Med Genet 43:512-6. 2006..These deletions are usually detected by fluorescence in situ hybridisation studies. The deletions can also be subclassified based on their size into class I and class II, with the former being larger and encompassing the latter...
- Mutations in exon 1 of MECP2 are a rare cause of Rett syndromeR E Amir
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
J Med Genet 42:e15. 2005
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeMelissa B Ramocki
Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
Ann Neurol 66:771-82. 2009..This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females...
- A study of the treatment of Rett syndrome with folate and betaineDaniel G Glaze
Baylor College of Medicine, Houston, Texas, USA
J Child Neurol 24:551-6. 2009..This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias...
- Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalitiesRodney C Samaco
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 106:21966-71. 2009..These data support a cell-autonomous, MeCP2-dependent mechanism for the regulation of aminergic neurotransmitter synthesis contributing to unique behavioral phenotypes...
- Neurophysiology of Rett syndromeDaniel G Glaze
Departments of Pediatrics and Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
Ment Retard Dev Disabil Res Rev 8:66-71. 2002..With the discovery of the genetic basis of RS, neurophysiological studies will provide parameters for phenotype-genotype correlations and characterization of animal models...
- Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 8:784-92. 2006..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome...
- Neurophysiology of Rett syndromeDaniel G Glaze
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
J Child Neurol 20:740-6. 2005..Autonomic nervous system dysfunction can contribute to the increased incidence of sudden unexpected death in Rett syndrome...
- Fractional calcium absorption is increased in girls with Rett syndromeKathleen J Motil
USDA ARS Children s Nutrition Research Center, Houston 77030, USA
J Pediatr Gastroenterol Nutr 42:419-26. 2006..We hypothesized that decreased intestinal calcium (Ca) absorption relative to dietary Ca intake and increased renal Ca excretion might cause these problems in RTT...
- Rett syndrome: North American databaseAlan K Percy
Civitan International Research Center, University of Alabama at Birmingham, 35294 0021, USA
J Child Neurol 22:1338-41. 2007....