R I Kelley

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint Inborn errors of sterol biosynthesis
    R I Kelley
    Kennedy Krieger Institute, Baltimore Maryland 21205, USA
    Annu Rev Genomics Hum Genet 2:299-341. 2001
  2. ncbi request reprint Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
    Richard I Kelley
    Division of Metabolism, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 112:318-26. 2002
  3. ncbi request reprint Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia
    Richard I Kelley
    Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 110:95-102. 2002
  4. ncbi request reprint Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome
    E Tierney
    Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    Ment Retard Dev Disabil Res Rev 6:131-4. 2000
  5. ncbi request reprint X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
    R I Kelley
    Kennedy Institute, Baltimore, Maryland 21205
    J Pediatr 119:738-47. 1991
  6. ncbi request reprint Inborn errors of cholesterol biosynthesis
    R I Kelley
    Johns Hopkins University, Baltimore, MD, USA
    Adv Pediatr 47:1-53. 2000
  7. ncbi request reprint Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
    E Tierney
    Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    Am J Med Genet 98:191-200. 2001
  8. ncbi request reprint Preliminary evidence for a cognitive phenotype in Barth syndrome
    M M Mazzocco
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, 3825 Greenspring Avenue, Baltimore, MD 21211, USA
    Am J Med Genet 102:372-8. 2001
  9. ncbi request reprint Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
    D Holmes Morton
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:5-17. 2003
  10. ncbi request reprint Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome
    Deborah L Cragun
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 129:1-7. 2004

Collaborators

  • E Tierney
  • G E Herman
  • Kevin A Strauss
  • M M Mazzocco
  • Alasdair G Hunter
  • Forbes D Porter
  • Hans R Waterham
  • Michael Schlame
  • Leslie G Biesecker
  • Anna Simon
  • J P Drenth
  • R C M Hennekam
  • D Holmes Morton
  • Wendy Y Craig
  • Yang Xu
  • Cedric H L Shackleton
  • Deborah L Cragun
  • Patrycja A Krakowiak
  • Sakkubai Naidu
  • Lisa Kratz
  • Marybeth Hummel
  • David J Aughton
  • Marjorie J Rosenberg
  • Marie Roberson
  • Josep Marcos
  • Andrew R MacRae
  • Mira B Irons
  • Lisa E Kratz
  • Malgorzata J Nowaczyk
  • James E Haddow
  • G Stephen Tint
  • Edward M Kloza
  • Glenn E Palomaki
  • Heide Plesken
  • John J Sutachan
  • Robert J Hopkin
  • Neil P Mulrooney
  • Nancy D Leslie
  • Sharon K Trumpy
  • Richard M Pauli
  • Carmen Cuffari
  • Yinzi Yang
  • Alexander Grinberg
  • Charles J Mullett
  • Donna L Robinson
  • Aida Metzenberg
  • Genila Bibat
  • Eric Hoffman
  • Jonathan Pevsner
  • Martina Kovarova
  • David Cunningham
  • Ginny Harris
  • Maria Tsokos
  • Diana Cozma
  • Caroline S Morton
  • Christine Hendrickson
  • Mary E Blue
  • Erik G Puffenberger
  • Christopher A Wassif
  • Vincent Pureza
  • Michael V Johnston
  • Charles Rohde
  • Richa Agarwala
  • Alejandro A Schäffer
  • Thorsten Koch
  • Ferdinando Palmieri
  • Linda M Kalikin
  • Izabela Makalowska
  • Gerard Bouffard
  • Mark S Hilliard
  • Giuseppe Fiermonte
  • Elizabeth M Petty
  • James L Weber
  • Joie Davis

Detail Information

Publications21

  1. ncbi request reprint Inborn errors of sterol biosynthesis
    R I Kelley
    Kennedy Krieger Institute, Baltimore Maryland 21205, USA
    Annu Rev Genomics Hum Genet 2:299-341. 2001
    ....
  2. ncbi request reprint Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
    Richard I Kelley
    Division of Metabolism, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 112:318-26. 2002
    ..Amish lethal microcephaly maps to 17q25 and may be caused by a defect in a mitochondrial inner membrane protein functioning as a 2-ketoglutarate transporter...
  3. ncbi request reprint Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia
    Richard I Kelley
    Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 110:95-102. 2002
    ..Our results suggest that ABS can occur in a patient with an intrinsic defect of cholesterol biosynthesis at the level of lanosterol 14-alpha-demethylase, although the genetic nature of the deficiency remains to be determined...
  4. ncbi request reprint Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome
    E Tierney
    Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    Ment Retard Dev Disabil Res Rev 6:131-4. 2000
    ..Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. MRDD Research Reviews 2000;6:131-134...
  5. ncbi request reprint X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
    R I Kelley
    Kennedy Institute, Baltimore, Maryland 21205
    J Pediatr 119:738-47. 1991
    ....
  6. ncbi request reprint Inborn errors of cholesterol biosynthesis
    R I Kelley
    Johns Hopkins University, Baltimore, MD, USA
    Adv Pediatr 47:1-53. 2000
    ....
  7. ncbi request reprint Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
    E Tierney
    Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
    Am J Med Genet 98:191-200. 2001
    ..1993, 1994]. Thus, SLOS is a metabolic disorder that can be associated with autism and other behavioral characteristics that define a distinctive and diagnostically important behavioral disorder...
  8. ncbi request reprint Preliminary evidence for a cognitive phenotype in Barth syndrome
    M M Mazzocco
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, 3825 Greenspring Avenue, Baltimore, MD 21211, USA
    Am J Med Genet 102:372-8. 2001
    ..Although based on a small sample size, the preliminary data presented in this work are the first indication of a cognitive phenotype associated with BTHS...
  9. ncbi request reprint Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
    D Holmes Morton
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:5-17. 2003
    ....
  10. ncbi request reprint Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome
    Deborah L Cragun
    Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 129:1-7. 2004
    ....
  11. ncbi request reprint Mutant deoxynucleotide carrier is associated with congenital microcephaly
    Marjorie J Rosenberg
    National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bethesda, Maryland 20892 4472, USA
    Nat Genet 32:175-9. 2002
    ..Our data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth...
  12. ncbi request reprint Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
    Marybeth Hummel
    Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA
    Am J Med Genet A 122:246-51. 2003
    ..This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene...
  13. ncbi request reprint Characterization of lymphoblast mitochondria from patients with Barth syndrome
    Yang Xu
    Department of Anesthesiology, New York University School of Medicine, New York, NY 10016, USA
    Lab Invest 85:823-30. 2005
    ..The data suggest that phospholipid abnormalities of BTHS mitochondria led to partial uncoupling of oxidative phosphorylation and that lymphoblasts compensated for this deficiency by expanding the mitochondrial compartment...
  14. ncbi request reprint Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    Anna Simon
    Department of General Internal Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands
    Clin Pharmacol Ther 75:476-83. 2004
    ..These data offer preliminary evidence for the hypothesis that simvastatin may improve inflammatory attacks in the hyper-IgD syndrome. This highlights the anti-inflammatory properties of HMG-CoA reductase inhibition...
  15. ncbi request reprint Phospholipid abnormalities in children with Barth syndrome
    Michael Schlame
    Department of Anesthesiology, New York University School of Medicine, New York, New York 10016, USA
    J Am Coll Cardiol 42:1994-9. 2003
    ..We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype...
  16. ncbi request reprint Clinical variability in Rett syndrome
    Sakkubai Naidu
    Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    J Child Neurol 18:662-8. 2003
    ....
  17. ncbi request reprint Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
    Patrycja A Krakowiak
    Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 12:1631-41. 2003
    ..We identified a homozygous mutation of SC5D (137A>C, Y46S) in this patient. An unique aspect of the lathosterolosis phenotype is the combination of a malformation syndrome with an intracellular storage defect...
  18. pmc Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    Hans R Waterham
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 72:1013-7. 2003
    ..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency...
  19. ncbi request reprint Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    Gail E Herman
    Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA
    Genet Med 4:434-8. 2002
    ..The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols...
  20. ncbi request reprint X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
    David J Aughton
    Division of Genetics, Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan, USA
    Am J Med Genet A 116:255-60. 2003
    ..Biochemical and molecular studies demonstrate that he is mosaic for a sterol-delta(8)-delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male...
  21. ncbi request reprint Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome
    Wendy Y Craig
    Foundation for Blood Research, Scarborough, ME, USA
    Prenat Diagn 26:842-9. 2006
    ..We examine the feasibility of identifying SLOS as a part of a routine prenatal screening and evaluate diagnostic testing in maternal urine (or serum), in addition to amniotic fluid...