Alan F Rope
Affiliation: University of Utah
- Dilated ascending aorta in a child with ring chromosome 21 syndromeAlan 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...
- DiGeorge anomaly in the absence of chromosome 22q11.2 deletionAlan 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...
- Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplificationLarissa V Furtado
Department of Pathology, University of Utah Health Science Center, Salt Lake City, UT 84108, USA
BMC Med Genet 12:119. 2011....
- A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspectiveWhitney 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...
- Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestationsKerry 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...
- Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven 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...
- 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...
- A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutationLarissa 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...
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan 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...
- Upper airway malformation associated with partial trisomy 11qHui 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...
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and managementAngela 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...