Richard I Kelley

Richard I Kelley

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Richard I Kelley

Richard I Kelley

Publications by authors named "Richard I Kelley"

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A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303568PMC
March 2017

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.

Neurobiol Dis 2016 07 24;91:69-82. Epub 2016 Feb 24.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860088PMC
July 2016

Clinical laboratory studies in Barth Syndrome.

Mol Genet Metab 2014 Jun 30;112(2):143-7. Epub 2014 Mar 30.

Division of Metabolism, Kennedy Krieger Institute, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.03.007DOI Listing
June 2014

Barth syndrome.

Orphanet J Rare Dis 2013 Feb 12;8:23. Epub 2013 Feb 12.

NHS Specialised Services Barth Syndrome Service, Royal Hospital for Children, Upper Maudlin St, Bristol, BS2 8BJ, UK.

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http://dx.doi.org/10.1186/1750-1172-8-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583704PMC
February 2013

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

Hepatology 2012 Jul 5;56(1):49-56. Epub 2012 Jun 5.

Duke Clinical Research Institute and Department of Gastroenterology, Duke University Medical Center, Durham, NC 27715, USA.

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http://dx.doi.org/10.1002/hep.25631DOI Listing
July 2012

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

PLoS Genet 2011 Sep 1;7(9):e1002224. Epub 2011 Sep 1.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3164675PMC
September 2011

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):142-5

Department of Medical and Molecular Genetics, Indiana University, Indianapolis, 46202-5251, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30241
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http://dx.doi.org/10.1002/ajmg.c.30241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815131PMC
February 2010

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).

Am J Med Genet A 2007 Sep;143A(18):2129-36

Children's Hospital Oakland Research Institute, Oakland, California 94609, USA.

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http://dx.doi.org/10.1002/ajmg.a.31901DOI Listing
September 2007

Abnormalities of cholesterol metabolism in autism spectrum disorders.

Am J Med Genet B Neuropsychiatr Genet 2006 Sep;141B(6):666-8

Kennedy Krieger Institute, Baltimore, Maryland 21211, USA.

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http://dx.doi.org/10.1002/ajmg.b.30368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553243PMC
September 2006

Characterization of lymphoblast mitochondria from patients with Barth syndrome.

Lab Invest 2005 Jun;85(6):823-30

Department of Anesthesiology, New York University School of Medicine, New York, NY 10016, USA.

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http://www.nature.com/articles/3700274
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http://dx.doi.org/10.1038/labinvest.3700274DOI Listing
June 2005

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Mol Genet Metab 2005 Jan;84(1):48-60

Center for Molecular and Human Genetics, Columbus Children's Research Institute, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.08.007DOI Listing
January 2005

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Am J Med Genet A 2004 Aug;129A(1):1-7

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.30170DOI Listing
August 2004

Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.

Clin Pharmacol Ther 2004 May;75(5):476-83

Department of General Internal Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.clpt.2004.01.012DOI Listing
May 2004

Remodeling of cardiolipin by phospholipid transacylation.

J Biol Chem 2003 Dec 9;278(51):51380-5. Epub 2003 Oct 9.

Department of Anesthesiology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1074/jbc.M307382200DOI Listing
December 2003

Phospholipid abnormalities in children with Barth syndrome.

J Am Coll Cardiol 2003 Dec;42(11):1994-9

Department of Anesthesiology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1016/j.jacc.2003.06.015DOI Listing
December 2003

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Am J Med Genet A 2003 Oct;122A(3):246-51

Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA.

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http://dx.doi.org/10.1002/ajmg.a.20248DOI Listing
October 2003

Clinical variability in Rett syndrome.

J Child Neurol 2003 Oct;18(10):662-8

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1177/08830738030180100801DOI Listing
October 2003

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

Arthritis Rheum 2003 Sep;48(9):2645-51

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/art.11218DOI Listing
September 2003

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Am J Med Genet C Semin Med Genet 2003 Aug;121C(1):5-17

Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA.

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http://dx.doi.org/10.1002/ajmg.c.20002DOI Listing
August 2003

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Hum Mol Genet 2003 Jul;12(13):1631-41

Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddg172DOI Listing
July 2003

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Genet Med 2002 Nov-Dec;4(6):434-8

Children's Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1097/00125817-200211000-00006DOI Listing
May 2003

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Nat Genet 2003 Apr 24;33(4):508-13. Epub 2003 Mar 24.

Department of Molecular Biology and Genetics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng1134DOI Listing
April 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

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Am J Med Genet 2002 Nov;112(4):318-26

Division of Metabolism, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1002/ajmg.10529DOI Listing
November 2002

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Nat Genet 2002 Sep 19;32(1):175-9. Epub 2002 Aug 19.

National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1038/ng948DOI Listing
September 2002

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

Nature 2002 Jul;418(6896):417-22

Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242-1101, USA.

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http://dx.doi.org/10.1038/nature00837DOI Listing
July 2002

Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Pediatrics 2002 Jun;109(6):999-1008

Clinic for Special Children, Strasburg Pennsylvania 17579,, USA.

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http://dx.doi.org/10.1542/peds.109.6.999DOI Listing
June 2002

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Am J Med Genet 2002 Jun;110(2):95-102

Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1002/ajmg.10510DOI Listing
June 2002

Hereditary periodic fever.

N Engl J Med 2002 May;346(18):1415-6; author reply 1415-6

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May 2002

A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.

Chem Phys Lipids 2002 May;115(1-2):1-15

Department of Biochemistry and Cell Biology, Rice University, MS140, 6100 Main Street, Houston, TX 77005-1892, USA.

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http://dx.doi.org/10.1016/s0009-3084(01)00205-5DOI Listing
May 2002