Brad Angle

Brad Angle

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Brad Angle

Brad Angle

Publications by authors named "Brad Angle"

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Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.

Am J Med Genet A 2018 07;176(7):1648-1656

A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.

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http://doi.wiley.com/10.1002/ajmg.a.38832
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http://dx.doi.org/10.1002/ajmg.a.38832DOI Listing
July 2018

Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.

Epileptic Disord 2016 Jun;18(2):195-200

Department of Pediatrics, Divisions of Neurology & Epilepsy, Ann & Robert H. Lurie Children's Hospital of Chicago, and the Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1684/epd.2016.0828DOI Listing
June 2016

A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.

Pediatrics 2015 Jan 15;135(1):e202-6. Epub 2014 Dec 15.

Divisions of Neurology and Ruth D. and Ken M. Davee Pediatric Neurocritical Care Program, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1542/peds.2013-1427DOI Listing
January 2015

Whole exome sequence analysis of Peters anomaly.

Hum Genet 2014 Dec 3;133(12):1497-511. Epub 2014 Sep 3.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

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http://dx.doi.org/10.1007/s00439-014-1481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395516PMC
December 2014

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.

Genet Med 2012 Mar 5;14(3):342-7. Epub 2012 Jan 5.

Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/gim.2011.9DOI Listing
March 2012

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

Birth Defects Res A Clin Mol Teratol 2008 Apr;82(4):200-10

Northwestern University's Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA.

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http://dx.doi.org/10.1002/bdra.20443DOI Listing
April 2008

Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.

Mol Genet Metab 2008 Jan 31;93(1):36-9. Epub 2007 Oct 31.

Division of Birth Defects and Metabolism, Department of Pediatrics, Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.015DOI Listing
January 2008

A 4-month-old girl with an enlarged tongue and limb asymmetry. Beckwith-Wiedeman syndrome.

Authors:
Brad Angle

Pediatr Ann 2007 May;36(5):261-2

Children's Memorial Hospital, Chicago, IL 60614, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-07DOI Listing
May 2007

A 3-day-old infant with a congenital heart defect and hypocalcemia. 22q11 deletion syndrome.

Authors:
Brad Angle

Pediatr Ann 2007 May;36(5):275-6

Division of Genetics, Birth Defects and Metabolism, Childrens Memorial Hosiptal, Chicago 60614, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-12DOI Listing
May 2007

An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome.

Authors:
Brad Angle

Pediatr Ann 2007 May;36(5):282-3

Division of Genetics, Birth Defects, and Metabolism at Children's Memorial Hospital, Chicago, IL 60614, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-15DOI Listing
May 2007

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Am J Hum Genet 2006 Jun 10;78(6):1075-80. Epub 2006 Apr 10.

Department of Pediatrics Washington University School of Medicine, St. Louis, MO 63110, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297076392
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http://dx.doi.org/10.1086/504304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474103PMC
June 2006

Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.

Am J Med Genet A 2003 Feb;116A(4):376-80

Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA.

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http://dx.doi.org/10.1002/ajmg.a.10025DOI Listing
February 2003

Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.

Am J Med Genet 2002 Aug;111(3):307-12

Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA.

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http://dx.doi.org/10.1002/ajmg.10599DOI Listing
August 2002

Developmental field defects: coming together of associations and sequences during blastogenesis.

Am J Med Genet 2002 Jul;110(4):320-3

Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA.

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http://dx.doi.org/10.1002/ajmg.10429DOI Listing
July 2002