Research Topics
| D C BittelSummaryAffiliation: Children's Mercy Hospital Country: USA Publications
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Detail Information
Publications
Gene expression in cardiac tissues from infants with idiopathic conotruncal defectsDouglas C Bittel
Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, USA
BMC Med Genomics 4:1. 2011....- Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGHD C Bittel
Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
Cytogenet Genome Res 124:113-20. 2009..2 deletion or DiGeorge syndrome... - Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPDDouglas C Bittel
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri at Kansas City School of Medicine, 2401 Gillham Road, Kansas City, MO 64108, USA
Genomics 85:85-91. 2005..Our results indicate that interconnected mechanisms can produce subtle and unexpected changes in gene expression that may help explain the phenotypic differences observed among the genetic subtypes of AS... - Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biologyDouglas C Bittel
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, and University of Missouri Kansas City School of Medicine, 2401 Gillham Rd, Kansas City, MO 64108, USA
Expert Rev Mol Med 7:1-20. 2005..Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research... - Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPDD C Bittel
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA
J Med Genet 40:568-74. 2003..CONCLUSIONS: Our results suggest that differences in expression of candidate genes may contribute to phenotypic differences between PWS subjects with deletion or UPD and warrant further investigations... - Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndromeZohreh Talebizadeh
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA
Int J Mol Med 15:707-11. 2005..Additional studies including quantitative gene expression measurements will be required to further evaluate the role of these genes in the eating disorder seen in PWS... - Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) arrayH L Newkirk
Genomics Research Laboratory, Children s Mercy Hospital and Clinics, Kansas City, Missouri 64108, USA
Am J Med Genet A 146:2346-54. 2008..3 kb) imprinting center (IC) deletions, with no overlap in MFI values compared with normal loci. Using this diagnostic QMH assay, the precise deleted genomic interval could be ascertained in all PWS subjects examined in the present study... - An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotypeMerlin G Butler
Department of Psychiatry and Behavioral Sciences, Kansas University Medical Center, Kansas City, Kansas 66160, USA
Am J Med Genet A 152:404-8. 2010.... - Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosisShihui Yu
Department of Pathology, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
Am J Clin Pathol 132:349-60. 2009..49-2.62 Mb) with a common 2.43-Mb deleted region. Approximately 7 copy number variants from 400 base pairs to 1.6 Mb were identified per sample. Results demonstrate the usefulness of the aCGH-244K platform as a powerful diagnostic tool... - Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomyMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Pediatrics 113:565-73. 2004.... - Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndromeMerlin G Butler
Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Am J Med Genet A 146:854-60. 2008..Furthermore, most PWS subjects had copy number variation (CNV) of 50 kb or larger in other chromosome regions; most common were deletions and duplications of 8p and 3q, previously recognized sites of CNV in the human genome... - Whole genome microarray analysis of gene expression in Prader-Willi syndromeDouglas C Bittel
Children s Mercy Hospitals and Clinics, University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA
Am J Med Genet A 143:430-42. 2007..Our analysis identified previously unappreciated changes in gene expression which may contribute to the clinical manifestations seen in PWS... - Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndromeMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Am J Med Genet A 143:415-21. 2007..The possibility that obestatin may contribute to the failure to thrive which is common in infants with PWS warrants further investigation... - Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndromeMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals Kansas City, MO 64108, USA
J Pediatr Endocrinol Metab 17:1177-84. 2004.... - Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjectsMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Am J Med Genet A 143:449-59. 2007..Our data indicate that there is a significant reduction of EE in individuals with PWS resulting from reduced activity but also from lower energy utilization due to reduced LBM which consists primarily of muscle... - X-chromosome inactivation patterns in females with Prader-Willi syndromeMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri, Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Am J Med Genet A 143:469-75. 2007..Extreme X-inactivation skewness may also lead to additional risks for X-linked recessive disorders in PWS females with UPD and extreme X-chromosome skewness... - Comparison of X-chromosome inactivation patterns in multiple tissues from human femalesD C Bittel
Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
J Med Genet 45:309-13. 2008..For accessible tissues to be informative for genetic analysis, a high degree of concordance of genetic findings among tissue types is required... - Brief report: non-random X chromosome inactivation in females with autismZ Talebizadeh
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, MO 64108, USA
J Autism Dev Disord 35:675-81. 2005..X chromosome skewness has been reported in female carriers of other neurological disorders such as X-linked mental retardation, adrenoleukodystrophy and Rett syndrome... - Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesDouglas C Bittel
Children s Mercy Hospitals and Clinics, Section of Medical Genetics and Molecular Medicine, Kansas City, MO 64108, USA
Genet Test 11:467-75. 2007..MLPA is a relatively simple, cost-effective technique found to be useful and accurate for methylation status, copy number and analysis of genetic subtype in PWS and AS, as well as other chromosome 15 abnormalities... - A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysisDouglas C Bittel
Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Am J Med Genet A 140:573-9. 2006..Our studies suggest increased expression of several genes in the 3p duplication region, including GHRL and PPARG, which may contribute to the phenotypic features in our 3p duplication subject... - C-reactive protein levels in subjects with Prader-Willi syndrome and obesityMerlin G Butler
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics and University of Missouri- Kansas City School of Medicine, Kansas City, MO 64108, USA
Genet Med 8:243-8. 2006..Increased levels of C-reactive protein (>3.0 mg/L) are associated with cardiovascular disease suggesting subjects with Prader-Willi syndrome as well as obese subjects are at a similar increased risk... - Whole genome microarray analysis of gene expression in subjects with fragile X syndromeDouglas C Bittel
Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, Missouri 64108, USA
Genet Med 9:464-72. 2007.... - Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndromeDouglas C Bittel
Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
Pediatrics 118:e1276-83. 2006..Additional research is needed to identify the function of these genes and their interaction with gene networks to clarify the potential role they play in central nervous system development and function... - Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndromeDouglas C Bittel
Children s Mercy Hospitals and Clinics and University of Missouri Kansas City, School of Medicine, Kansas City, Missouri 54108, USA
Am J Med Genet A 143:422-9. 2007..These results, along with other recent reports, suggest that the cumulative effect of modest changes in expression of many genes, especially genes involved in energy metabolism, contribute to the failure to thrive of infants with PWS... - Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridizationShihui Yu
Department of Pathology, Children s Mercy Hospitals and Clinics, and University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA
Genet Test Mol Biomarkers 13:751-60. 2009..Our data illustrate that qPCR methodology using SYBR Green I reagents is accurate, highly sensitive, specific, rapid, and cost-effective for verification of chromosomal imbalances detected by aCGH in the clinical setting... - A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genesJean Baptiste Lepichon
Section of Neurology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
Am J Med Genet A 152:1300-4. 2010..The distinctive clinical findings in this patient reveal potential functions of the genes within the deleted region...