David J Aughton

David J Aughton

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David J Aughton

David J Aughton

Publications by authors named "David J Aughton"

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Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

Eur J Med Genet 2016 Dec 27;59(12):618-623. Epub 2016 Oct 27.

Beaumont Children's Hospital, Royal Oak, MI, USA; Oakland University William Beaumont School of Medicine, Rochester, MI, USA.

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http://dx.doi.org/10.1016/j.ejmg.2016.10.010DOI Listing
December 2016

Pseudohypoparathyroidism type 1A and morbid obesity in infancy.

Endocr Pract 2009 Apr;15(3):249-53

Department of Pediatrics, St John Hospital, Detroit, Michigan 48236, USA.

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http://journals.aace.com/doi/abs/10.4158/EP.15.3.249
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http://dx.doi.org/10.4158/EP.15.3.249DOI Listing
April 2009

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

Genet Med 2004 Mar-Apr;6(2):81-9

Center for Human Genetics and Department of Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1097/01.gim.0000117850.04443.c9DOI Listing
October 2004

Delineation of complex chromosomal rearrangements: evidence for increased complexity.

Hum Genet 2004 Apr 7;114(5):448-57. Epub 2004 Feb 7.

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106-9959, USA.

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http://dx.doi.org/10.1007/s00439-003-1079-1DOI Listing
April 2004

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Am J Med Genet A 2003 Jul;120A(1):28-33

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Building 10 Room 10C-103, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1002/ajmg.a.20024DOI Listing
July 2003

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

Am J Med Genet A 2003 Jan;116A(3):255-60

Division of Genetics, Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan, USA.

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http://dx.doi.org/10.1002/ajmg.a.10852DOI Listing
January 2003