Alan F Rope

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Dilated ascending aorta in a child with ring chromosome 21 syndrome
    Alan F Rope
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Med Genet A 130:191-5. 2004
  2. doi request reprint DiGeorge anomaly in the absence of chromosome 22q11.2 deletion
    Alan F Rope
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA
    J Pediatr 155:560-5. 2009
  3. pmc Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
    Larissa V Furtado
    Department of Pathology, University of Utah Health Science Center, Salt Lake City, UT 84108, USA
    BMC Med Genet 12:119. 2011
  4. pmc A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
    Whitney L Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, USA
    BMC Med Genomics 5:50. 2012
  5. ncbi request reprint Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations
    Kerry A Shooner
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Ohio 45229 3039, USA
    J Pediatr 146:382-7. 2005
  6. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
  7. ncbi request reprint Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)
    R Christopher Miyamoto
    Division of Pediatric of Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Otolaryngol Head Neck Surg 130:415-7. 2004
  8. doi request reprint A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
    Larissa V Furtado
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 152:2838-44. 2010
  9. pmc Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    Alan F Rope
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
    Am J Hum Genet 89:28-43. 2011
  10. ncbi request reprint Upper airway malformation associated with partial trisomy 11q
    Hui quan Zhao
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
    Am J Med Genet A 120:331-7. 2003

Detail Information

Publications11

  1. ncbi request reprint Dilated ascending aorta in a child with ring chromosome 21 syndrome
    Alan F Rope
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Med Genet A 130:191-5. 2004
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
  2. doi request reprint DiGeorge anomaly in the absence of chromosome 22q11.2 deletion
    Alan F Rope
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA
    J Pediatr 155:560-5. 2009
    ..To test the hypothesis that the prevalence of deletion 22q11.2 among individuals who meet criteria for DiGeorge anomaly (DGA) is lower than the 90% commonly cited...
  3. pmc Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
    Larissa V Furtado
    Department of Pathology, University of Utah Health Science Center, Salt Lake City, UT 84108, USA
    BMC Med Genet 12:119. 2011
    ....
  4. pmc A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
    Whitney L Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, USA
    BMC Med Genomics 5:50. 2012
    ..In this setting next generation sequencing (NGS) offers several advantages over traditional molecular techniques...
  5. ncbi request reprint Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations
    Kerry A Shooner
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Ohio 45229 3039, USA
    J Pediatr 146:382-7. 2005
    ..2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM...
  6. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
    ..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye...
  7. ncbi request reprint Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)
    R Christopher Miyamoto
    Division of Pediatric of Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Otolaryngol Head Neck Surg 130:415-7. 2004
    ..Families of patients who tested positive for the deletion were referred to the Cincinnati Children's Division of Human Genetics for additional evaluation and counseling...
  8. doi request reprint A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
    Larissa V Furtado
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 152:2838-44. 2010
    ..141G>T, p.W47C). The unaffected mothers were heterozygous for the c.141G>T mutation arid showed random X-inactivation pattern upon...
  9. pmc Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    Alan F Rope
    Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
    Am J Hum Genet 89:28-43. 2011
    ..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
  10. ncbi request reprint Upper airway malformation associated with partial trisomy 11q
    Hui quan Zhao
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
    Am J Med Genet A 120:331-7. 2003
    ..Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2...
  11. pmc Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
    Angela E Lin
    Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 10:469-94. 2008
    ..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome...