D C Bittel

Summary

Affiliation: Children's Mercy Hospital
Country: USA

Publications

  1. doi request reprint A tissue-specific gene expression template portrays heart development and pathology
    Amy Rodemoyer
    The Ward Family Heart Center, Children s Mercy Hospitals and Clinics, Kansas City, MO 64108, USA
    Hum Genomics 8:6. 2014
  2. pmc Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
    Douglas C Bittel
    Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, USA
    BMC Med Genomics 4:1. 2011
  3. pmc Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
    D 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
  4. ncbi request reprint Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD
    Douglas 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
  5. ncbi request reprint Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology
    Douglas 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
  6. pmc Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD
    D 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
  7. ncbi request reprint Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome
    Zohreh 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
  8. doi request reprint Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array
    H 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
  9. ncbi request reprint Whole genome microarray analysis of gene expression in Prader-Willi syndrome
    Douglas 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
  10. ncbi request reprint Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome
    Merlin 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

Collaborators

Detail Information

Publications27

  1. doi request reprint A tissue-specific gene expression template portrays heart development and pathology
    Amy Rodemoyer
    The Ward Family Heart Center, Children s Mercy Hospitals and Clinics, Kansas City, MO 64108, USA
    Hum Genomics 8:6. 2014
    ..Our analysis suggests that the homoeostatic equilibrium assessed by the GET at the inter-organ level is generally maintained at the intra-organ level as well. ..
  2. pmc Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
    Douglas C Bittel
    Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, USA
    BMC Med Genomics 4:1. 2011
    ....
  3. pmc Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
    D 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...
  4. ncbi request reprint Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD
    Douglas 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...
  5. ncbi request reprint Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology
    Douglas 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...
  6. pmc Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD
    D 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
    ..There is a paucity of data examining simultaneous gene expression in this syndrome...
  7. ncbi request reprint Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome
    Zohreh 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...
  8. doi request reprint Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array
    H 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...
  9. ncbi request reprint Whole genome microarray analysis of gene expression in Prader-Willi syndrome
    Douglas 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...
  10. ncbi request reprint Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome
    Merlin 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...
  11. ncbi request reprint Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects
    Merlin 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...
  12. ncbi request reprint X-chromosome inactivation patterns in females with Prader-Willi syndrome
    Merlin 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...
  13. ncbi request reprint Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome
    Merlin 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
    ....
  14. doi request reprint Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis
    Shihui 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...
  15. pmc An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype
    Merlin 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
    ....
  16. ncbi request reprint Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
    Merlin 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
    ....
  17. doi request reprint Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome
    Merlin 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...
  18. ncbi request reprint Comparison of X-chromosome inactivation patterns in multiple tissues from human females
    D 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...
  19. ncbi request reprint Brief report: non-random X chromosome inactivation in females with autism
    Z 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...
  20. ncbi request reprint Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities
    Douglas 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...
  21. pmc A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis
    Douglas 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...
  22. ncbi request reprint Whole genome microarray analysis of gene expression in subjects with fragile X syndrome
    Douglas 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
    ....
  23. ncbi request reprint C-reactive protein levels in subjects with Prader-Willi syndrome and obesity
    Merlin 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
    ..Therefore, we have measured the levels of C-reactive protein in a descriptive study of a cohort of Prader-Willi syndrome and comparison subjects...
  24. ncbi request reprint Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome
    Douglas 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...
  25. ncbi request reprint Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
    Douglas 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...
  26. doi request reprint A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes
    Jean 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...
  27. doi request reprint Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization
    Shihui 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...