Robert J Hopkin

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. doi request reprint Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
    Robert J Hopkin
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Pediatr Res 64:550-5. 2008
  2. doi request reprint Acute progression of neuromuscular findings in infantile Pompe disease
    T Andrew Burrow
    Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Pediatr Neurol 42:455-8. 2010
  3. doi request reprint Evaluation of growth in patients with isolated cleft lip and/or cleft palate
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA
    Pediatrics 125:e543-9. 2010
  4. doi request reprint Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes
    Kyla J Patek
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Prenat Diagn 32:75-82. 2012
  5. doi request reprint Severe cervical scoliosis in the fetus
    Carlos E Prada
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Prenat Diagn 31:1198-202. 2011
  6. doi request reprint Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1
    Carlos E Prada
    Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    J Pediatr 160:461-7. 2012
  7. doi request reprint Severe micrognathia: indications for EXIT-to-Airway
    Lee M Morris
    Fetal Care Center of Cincinnati, Divisions of Pediatric General, Thoracic, and Fetal Surgery, Otolaryngology, Genetics, and Maternal Fetal Medicine, Cincinnati Children s Hospital, University Hospital, Good Samaritan Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    Fetal Diagn Ther 26:162-6. 2009
  8. ncbi request reprint Enzyme reconstitution/replacement therapy for lysosomal storage diseases
    T Andrew Burrow
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
    Curr Opin Pediatr 19:628-35. 2007
  9. ncbi request reprint Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease
    Natalie Jansen Street
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, OH 45229 3039, USA
    Genet Med 8:346-53. 2006
  10. doi request reprint Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
    Am J Med Genet A 149:1691-7. 2009

Collaborators

Detail Information

Publications26

  1. doi request reprint Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
    Robert J Hopkin
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Pediatr Res 64:550-5. 2008
    ..Thus, many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years...
  2. doi request reprint Acute progression of neuromuscular findings in infantile Pompe disease
    T Andrew Burrow
    Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Pediatr Neurol 42:455-8. 2010
    ..Routine electromyography, nerve conduction studies, and cranial magnetic resonance imaging should be considered to delineate the presence of a neurodegenerative process in infantile-onset Pompe disease...
  3. doi request reprint Evaluation of growth in patients with isolated cleft lip and/or cleft palate
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA
    Pediatrics 125:e543-9. 2010
    ..The purpose of the study was to evaluate the growth of patients with isolated cleft lip (CL), with or without cleft palate (CP), or CP during the first few years of life...
  4. doi request reprint Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes
    Kyla J Patek
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Prenat Diagn 32:75-82. 2012
    ..The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI...
  5. doi request reprint Severe cervical scoliosis in the fetus
    Carlos E Prada
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Prenat Diagn 31:1198-202. 2011
    ..This study provides prenatal characteristics and postnatal outcomes of patients with severe cervical scoliosis...
  6. doi request reprint Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1
    Carlos E Prada
    Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    J Pediatr 160:461-7. 2012
    ..To characterize morbidity, mortality, and surgical outcomes in pediatric patients with symptomatic plexiform neurofibromas (PNFs)...
  7. doi request reprint Severe micrognathia: indications for EXIT-to-Airway
    Lee M Morris
    Fetal Care Center of Cincinnati, Divisions of Pediatric General, Thoracic, and Fetal Surgery, Otolaryngology, Genetics, and Maternal Fetal Medicine, Cincinnati Children s Hospital, University Hospital, Good Samaritan Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    Fetal Diagn Ther 26:162-6. 2009
    ..We propose indications for EXIT-to-Airway in micrognathia to include a jaw index <5%, with indirect evidence of aerodigestive tract obstruction such as polyhydramnios, glossoptosis or an absent stomach bubble...
  8. ncbi request reprint Enzyme reconstitution/replacement therapy for lysosomal storage diseases
    T Andrew Burrow
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
    Curr Opin Pediatr 19:628-35. 2007
    ....
  9. ncbi request reprint Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease
    Natalie Jansen Street
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, OH 45229 3039, USA
    Genet Med 8:346-53. 2006
    ..This study compares the quality of life of obligate heterozygotes to a historical healthy control population and to populations with multiple sclerosis and rheumatoid arthritis...
  10. doi request reprint Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
    Am J Med Genet A 149:1691-7. 2009
    ..Very high AFP values did seem to be correlated with risk for identifiable liver lesions. Determination of the natural changes in AFP levels over time will allow more appropriate comparison...
  11. doi request reprint Fractures in children with neurofibromatosis type 1 from two NF clinics
    Jaya K George-Abraham
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio
    Am J Med Genet A 161:921-6. 2013
    ..The lower physical activity level may have a "protective effect" for those with NF1, thus keeping their fracture incidence lower than expected for their relative degree of osteopenia. © 2013 Wiley Periodicals, Inc...
  12. doi request reprint Recurrent pancreatitis in ornithine transcarbamylase deficiency
    Carlos E Prada
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA
    Mol Genet Metab 106:482-4. 2012
    ..The pathogenesis of acute pancreatitis in this patient population requires further elucidation. Pancreatitis significantly affected dietary/metabolic management and increased frequency of hospitalizations...
  13. doi request reprint Characterization of congenital anomalies in individuals with choanal atresia
    T Andrew Burrow
    Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Arch Otolaryngol Head Neck Surg 135:543-7. 2009
    ..To review a tertiary care pediatric hospital's experience with choanal atresia and stenosis (CA/S) related to associated congenital anomalies (birth defects, including minor abnormalities) and genetic disorders...
  14. doi request reprint A case of minimal change disease in a Fabry patient
    Yuri A Zarate
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA
    Pediatr Nephrol 25:553-6. 2010
    ..We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease...
  15. doi request reprint Genetic causes of macroglossia: diagnostic approach
    Carlos E Prada
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Pediatrics 129:e431-7. 2012
    ..Evaluate the contribution of standard diagnostic tests for macroglossia when clinical features are not suggestive of Beckwith-Wiedemann syndrome (BWS)...
  16. doi request reprint Lethal presentation of neurofibromatosis and Noonan syndrome
    Carlos E Prada
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
    Am J Med Genet A 155:1360-6. 2011
    ..Our case suggests that a double genetic defect resulting in the hypersignaling of the Ras pathway may lead to complex cardiovascular abnormalities, cardiomyopathy, refractory arrhythmia, severe neurological phenotype, and early death...
  17. doi request reprint Fabry's disease
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
    Lancet 372:1427-35. 2008
    ..Additional data are needed to document long-term treatment outcomes...
  18. doi request reprint Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy
    Jeffrey R Tenney
    Division of Neurology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    J Child Neurol 26:223-7. 2011
    ..The findings in this report suggest that patients who have deletions of 14-3-3ε and/or CRK should be monitored closely for the development of seizures...
  19. ncbi request reprint Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease
    Robert J Hopkin
    Division and Program in Human Genetics, Cincinnati Children s Research Foundation, Cincinnati, Ohio 45229 3039, USA
    Genet Med 5:144-53. 2003
    ..In addition, the need for additional long-term data is emphasized because this is not attainable in short-term trials for a chronic disease...
  20. doi request reprint Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
    Jaya K George-Abraham
    Division of Human Genetics, Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 158:1971-6. 2012
    ..Finally, we believe cardiac defects with this genetic syndrome are a poor prognostic finding associated with high mortality...
  21. ncbi request reprint A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature
    Yuri A Zarate
    Department of Pediatrics, Division of Human Genetics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    Am J Med Genet A 143:265-70. 2007
    ..Differences between conventional cytogenetic techniques and newer molecular genetic studies are expected. These newer techniques will help refine prognosis and counseling for families in the future...
  22. pmc Prenatal MRI findings of fetuses with congenital high airway obstruction sequence
    Carolina V A Guimaraes
    Department of Radiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Korean J Radiol 10:129-34. 2009
    ..To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses...
  23. ncbi request reprint Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition
    Jamie Sutherell
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Congenit Heart Dis 2:342-6. 2007
    ..Because of potential new therapies, it is increasingly important to recognize neonatal MFS in utero as well as shortly after birth to initiate the appropriate diagnostic work-up and management...
  24. doi request reprint Phenotypic and microscopic description of a new case of Ermine phenotype
    Yuri A Zarate
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 149:1253-6. 2009
    ..Therefore, this should be included as an independent condition in the differential diagnosis. Additional phenotypic and pathologic descriptions are needed to better define this condition clinically, pathologically, and genetically...
  25. ncbi request reprint Enzyme therapy for lysosomal storage disease: principles, practice, and prospects
    Gregory A Grabowski
    The Division and Program in Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, 45229 3039, USA
    Annu Rev Genomics Hum Genet 4:403-36. 2003
    ..The principles, progress, and practice in these diseases provide prototypes for expansion of enzyme therapy to a growing set of these diseases...
  26. pmc Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report
    Alan P Kenny
    Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Pediatr Dev Pathol 12:417-20. 2009
    ..We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease...