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Richard Kelley

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Kevin A Strauss; Michael Zaragoza; Sandra Dreike; Lauren DuBiner; Richard I Kelley; Peng Li; D Holmes Morton; Jagat Narula; Navneet Narula; Xilma R Ortiz-González; Julia Platt; Vincent Procaccio; Erik G Puffenberger; Partho P Sengupta; Mariella Simon; Douglas C Wallace
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Sarah L N Clarke; Nicol Clayton; Michaela K Damin; Vanessa Garratt; Iris L Gonzalez; Sarah J Groves; Richard I Kelley; Robin P Martin; Katherine R McCurdy; Ruth Newbury-Ecob; Carolyn T Spencer; Michael Ashworth; Valerie M Bowen; Ann Bowron; Matthew J Toth; Beverly Tsai-Goodman; Colin Steward
Barth syndrome.
Anna Sukhanova; Louis M Weiner; Dong-Hua Yang; Hui Zheng; Yan Zhou; Gregory P Adams; Tetyana Bagnyukova; Barbara Burtness; Kathy Q Cai; David Cunningham; Brian L Egleston; Linara Gabitova; Erica A Golemis; Andrey Gorin; Gail E Herman; Richard I Kelley; Andres Klein-Szanto; Lisa Kratz; Hanqing Liu; Ranee Mehra; Anna Nikonova; Diana Restifo; Ilya G Serebriiskii; Igor Astsaturov
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

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2013: Kevin A Strauss; Michael Zaragoza; Sandra Dreike; Lauren DuBiner; Richard I Kelley; Peng Li; D Holmes Morton; Jagat Narula; Navneet Narula; Xilma R Ortiz-González; Julia Platt; Vincent Procaccio; Erik G Puffenberger; Partho P Sengupta; Mariella Simon; Douglas C Wallace
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(9):3453-8.
2013: Sarah L N Clarke; Nicol Clayton; Michaela K Damin; Vanessa Garratt; Iris L Gonzalez; Sarah J Groves; Richard I Kelley; Robin P Martin; Katherine R McCurdy; Ruth Newbury-Ecob; Carolyn T Spencer; Michael Ashworth; Valerie M Bowen; Ann Bowron; Matthew J Toth; Beverly Tsai-Goodman; Colin Steward
Barth syndrome.
Orphanet journal of rare diseases 2013;8():23.
2013: Anna Sukhanova; Louis M Weiner; Dong-Hua Yang; Hui Zheng; Yan Zhou; Gregory P Adams; Tetyana Bagnyukova; Barbara Burtness; Kathy Q Cai; David Cunningham; Brian L Egleston; Linara Gabitova; Erica A Golemis; Andrey Gorin; Gail E Herman; Richard I Kelley; Andres Klein-Szanto; Lisa Kratz; Hanqing Liu; Ranee Mehra; Anna Nikonova; Diana Restifo; Ilya G Serebriiskii; Igor Astsaturov
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Cancer discovery 2013;3(1):96-111.
2012: Lina Basel-Vanagaite; Sonia Abdelhak; Marc Abramowicz; David J Adams; Janine Altmüller; Mark J Arends; Bruno Dallapiccola; Maria Lisa Dentici; Julie Désir; Andrew Edwards; Jeanne Estabel; Jonathan Flint; Peter Frommolt; Anna-Karin B Gerdin; Adi Har-Zahav; Kay Hofmann; Thorsten Hoppe; Neil J Ingham; Natasha A Karp; Richard I Kelley; Osnat Konen; Christian Kubisch; Francesca Lepri; Xavier Miró; Gudrun Nürnberg; Peter Nürnberg; Metsada Pasmanik-Chor; Christine Podrini; Ramiro Ramirez-Solis; Edward Ryder; Alexandra Segref; Mordechai Shohat; Karen P Steel; Holger Thiele; Jacqueline K White; Guntram Borck
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
American journal of human genetics 2012;91(6):998-1010.
2012: Erik G Puffenberger; Calvin Shaw; Eric A Sherman; Carrie Sougnez; Kristian Cibulskis; Dominick Degrazio; Christopher Fiorentini; Stacey Gabriel; Robert N Jinks; Richard I Kelley; D Holmes Morton; Heng Wang; Baozhong Xin; Kevin A Strauss
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Human mutation 2012;33(12):1639-46.
2012: Paul J Clark; Richard I Kelley; Lisa Kratz; John G McHutchison; David M Millington; Andrew J Muir; G. SUBRAMANIAN; Alexander J Thompson; Adviye A Tolun; David M Vock; Keyur Patel
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.
Hepatology (Baltimore, Md.) 2012;56(1):49-56.
2011: Rolf W Stottmann; Pamela Tran; Annick Turbe-Doan; Richard I Kelley; Lisa Kratz; Jennifer L Moran; David R Beier
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
PLoS genetics 2011;7(9):e1002224.
2011: Christian P Schaaf; Oleg A Shchelochkov; Hans R Waterham; Panagiotis Katsonis; Richard I Kelley; Janet Koster; Lisa Kratz; Olivier Lichtarge; Fernando Scaglia; Marwan Shinawi
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
American journal of medical genetics. Part A 2011;155A(7):1597-604.
2011: Miao He; Lisa Kratz; Joshua J Michel; Abbe N Vallejo; Laura Ferris; Richard I Kelley; Jacqueline J Hoover; Drazen Jukic; K Michael Gibson; Lynne A Wolfe; Dhanya Ramachandran; Zwick Michael; Jerry Vockley
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
The Journal of clinical investigation 2011;121(3):976-84.
2010: Keith W McLarren; Tesa M Severson; Christèle du Souich; David Wayne Stockton; Lisa Kratz; David Cunningham; Glenda Hendson; Ryan D Morin; Diane Wu; Jessica E Paul; Jianghong An; Tanya N Nelson; Athena Chou; Andrea DeBarber; Louise S Merkens; Jacques L Michaud; Paula J Waters; Jingyi Yin; Barbara McGillivray; Michelle Demos; Guy A Rouleau; Karl-Heinz Grzeschik; Raffaella Smith; Patrick S Tarpey; Debbie Shears; Charles E Schwartz; Jozef Gecz; Michael R Stratton; Laura Arbour; Jane Hurlburt; Margot I Van Allen; Gail E Herman; Yongjun Zhao; Richard Moore; Richard I Kelley; Steven J M Jones; Robert D Steiner; F Lucy Raymond; Marco A Marra; Cornelius F Boerkoel
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
American journal of human genetics 2010;87(6):905-14.
2010: Wuhong Pei; Lisa Kratz; Isa Bernardini; Raman Sood; Tohei Yokogawa; Heidi Dorward; Carla Ciccone; Richard I Kelley; Yair Anikster; Harold A Burgess; Marjan Huizing; Benjamin Feldman
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development (Cambridge, England) 2010;137(15):2587-96.
2010: David D Weaver; Benjamin D Solomon; Kelly Akin-Samson; Richard I Kelley; Maximilian Muenke
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):142-5.
2008: Martina Witsch-Baumgartner; Ilona Schwentner; M Gruber; P Benlian; Jaume Bertranpetit; E Bieth; F Chevy; N Clusellas; X Estivill; G Gasparini; M Giros; Richard I Kelley; Malgorzata Krajewska-Walasek; J Menzel; T Miettinen; M Ogorelkova; M Rossi; I Scala; Albert Schinzel; K Schmidt; D Schönitzer; E Seemanova; K Sperling; M Syrrou; P J Talmud; B Wollnik; M Krawczak; D Labuda; Gerd Utermann
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Journal of medical genetics 2008;45(4):200-9.
2008: Jacqueline R Weissman; Richard I Kelley; Margaret L Bauman; Bruce Howard Cohen; Katherine F Murray; Rebecca L Mitchell; Rebecca L Kern; Marvin R Natowicz
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
PloS one 2008;3(11):e3815.
2007: Robin J Edison; Kate Berg; Alan T Remaley; Richard I Kelley; Charles Rotimi; Roger E Stevenson; Maximilian Muenke
Adverse birth outcome among mothers with low serum cholesterol.
Pediatrics 2007;120(4):723-33.
2007: Cedric H L Shackleton; Josep Marcos del Aguila; Glenn E Palomaki; Wendy Y Craig; Richard I Kelley; Lisa Kratz; James E Haddow
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).
American journal of medical genetics. Part A 2007;143A(18):2129-36.
2007: D Haas; J Morgenthaler; Felicitas Lacbawan; B Long; H Runz; Sven F Garbade; Johannes Zschocke; Richard I Kelley; Jürgen G Okun; Georg F Hoffmann; Maximilian Muenke
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Journal of medical genetics 2007;44(5):298-305.
2006: Elaine Tierney; Irena Bukelis; Richard E Thompson; Khalid Ahmed; ALKA ANEJA; Lisa Kratz; Richard I Kelley
Abnormalities of cholesterol metabolism in autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(6):666-8.
2006: L Williamson; Wiebke Arlt; C Shackleton; Richard I Kelley; S R Braddock
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
American journal of medical genetics. Part A 2006;140A(17):1797-803.
2006: Wendy Y Craig; James E Haddow; Glenn E Palomaki; Richard I Kelley; Lisa Kratz; Cedric H L Shackleton; Josep Marcos del Aguila; G Stephen Tint; Andrew R MacRae; Malgorzata J M Nowaczyk; Edward M Kloza; Mira Irons; Marie Roberson
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Prenatal diagnosis 2006;26(9):842-9.
2006: Wayne W K Lam; J Kirk; N Manning; W Reardon; Richard I Kelley; D Fitzpatrick
Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.
European journal of medical genetics 2006;49(2):195-9.
2005: Sakkubai Naidu; Genila Bibat; Doris D M Lin; Peter C Burger; Peter B Barker; Sérgio Rosemberg; Nancy Braverman; Hugo Arroyo; Michael Dowling; Ada Hamosh; Virginia E Kimonis; Carol Blank; Agata Fiumara; Sergio Facchini; Bhim Singhal; Hugo Moser; Richard I Kelley; Salvatore DiMauro
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Annals of neurology 2005;58(6):929-38.
2005: Yang Xu; John J Sutachan; Heide Plesken; Richard I Kelley; Michael Schlame
Characterization of lymphoblast mitochondria from patients with Barth syndrome.
Laboratory investigation; a journal of technical methods and pathology 2005;85(6):823-30.
2005: Martina Witsch-Baumgartner; P Clayton; N Clusellas; D Haas; Richard I Kelley; Malgorzata Krajewska-Walasek; S Lechner; M Rossi; J Zschocke; Gerd Utermann
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Human mutation 2005;25(4):412.
2005: K Neas; Bruce Bennetts; Kevin Carpenter; R White; Edwin P Kirk; M Wilson; Richard I Kelley; I Baric; John Christodoulou
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Journal of inherited metabolic disease 2005;28(4):525-32.
2005: Hugo Caldas; David Cunningham; Xiaojian Wang; Fenglei Jiang; Leon Humphries; Richard I Kelley; Gail E Herman
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.
Molecular genetics and metabolism 2005;84(1):48-60.
2004: Deborah L Cragun; Sharon K Trumpy; Cedric H L Shackleton; Richard I Kelley; Nancy D Leslie; Neil Mulrooney; Robert J Hopkin
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
American journal of medical genetics. Part A 2004;129A(1):1-7.
2004: Martina Witsch-Baumgartner; M Gruber; Hans Georg Kraft; M Rossi; P Clayton; M Giros; D Haas; Richard I Kelley; Malgorzata Krajewska-Walasek; Gerd Utermann
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
Journal of medical genetics 2004;41(8):577-84.
2004: Anna Simon; Elizabeth Drewe; Jos W M van der Meer; Richard J Powell; Richard I Kelley; Anton F H Stalenhoef; Joost P H Drenth
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.
Clinical pharmacology and therapeutics 2004;75(5):476-83.
2003: Yang Xu; Richard I Kelley; Thomas J J Blanck; Michael Schlame
Remodeling of cardiolipin by phospholipid transacylation.
The Journal of biological chemistry 2003;278(51):51380-5.
2003: Michael Schlame; Richard I Kelley; Annette Feigenbaum; Jeffrey A Towbin; Paul M Heerdt; Thomas Schieble; Ronald J A Wanders; Salvatore DiMauro; Thomas J J Blanck
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology 2003;42(11):1994-9.
2003: Marybeth Hummel; David Cunningham; Charles J Mullett; Richard I Kelley; Gail E Herman
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
American journal of medical genetics. Part A 2003;122A(3):246-51.
2003: Sakkubai Naidu; Genila Bibat; Lisa Kratz; Richard I Kelley; Jonathan Pevsner; Eric Hoffman; C Cuffari; Charles Rohde; Mary E Blue; Michael V Johnston
Clinical variability in Rett syndrome.
Journal of child neurology 2003;18(10):662-8.
2003: Kazuki Takada; Ivona Aksentijevich; Vijayabhanu Mahadevan; Jane A Dean; Richard I Kelley; Daniel Kastner
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
Arthritis and rheumatism 2003;48(9):2645-51.
2003: D Holmes Morton; Caroline S Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Christine Hendrickson; Richard I Kelley
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):5-17.
2003: Patrycja A Krakowiak; Christopher A Wassif; Lisa Kratz; Diana Cozma; Martina Kovárová; Ginny Harris; Alexander Grinberg; Yinzi Yang; Alasdair G W Hunter; Maria Tsokos; Richard I Kelley; Forbes D Porter
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Human molecular genetics 2003;12(13):1631-41.
2003: Michael K Cooper; Christopher A Wassif; Patrycja A Krakowiak; Jussi Taipale; Ruoyu Gong; Richard I Kelley; Forbes D Porter; Philip A Beachy
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
Nature genetics 2003;33(4):508-13.
2003: Hans R Waterham; Jan Koster; Petra A W Mooyer; Gerard van Noort Gv; Richard I Kelley; William R Wilcox; Ronald J A Wanders; Raoul Hennekam; Jan C Oosterwijk
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.
American journal of human genetics 2003;72(4):1013-7.
2003: David J Aughton; Richard I Kelley; Aida Metzenberg; Vincent Pureza; Richard M Pauli
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
American journal of medical genetics. Part A 2003;116A(3):255-60.
2002: Hans Andersson; Lisa Kratz; Richard I Kelley
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
American journal of medical genetics 2002;113(4):315-9.
2002: Gail E Herman; Richard I Kelley; Vincent Pureza; D Smith; Kevin Kopacz; James Pitt; Rebecca Sutphen; Leslie J Sheffield; Aida Metzenberg
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(6):434-8.
2002: Richard I Kelley; Donna Robinson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton
Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
American journal of medical genetics 2002;112(4):318-26.
2002: Marjorie J Rosenberg; Richa Agarwala; Gerald Bouffard; Joie Davis; Giuseppe Fiermonte; Mark S Hilliard; Thorsten Koch; Linda M Kalikin; Izabela Makalowska; D Holmes Morton; Elizabeth M Petty; James L Weber; Ferdinando Palmieri; Richard I Kelley; Alejandro A Schäffer; Leslie G Biesecker
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Nature genetics 2002;32(1):175-9.
2002: Daniel Michele; Rita Barresi; Motoi Kanagawa; Fumiaki Saito; Ronald D Cohn; Jakob S Satz; James Dollar; Ichizo Nishino; Richard I Kelley; Hannu Somer; Volker Straub; Katherine D Mathews; Steven A Moore; Kevin P Campbell
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Nature 2002;418(6896):417-22.
2002: Richard I Kelley; Lisa Kratz; Rivka L Glaser; Michael L Netzloff; Linda Miller Wolf; Ethylin Jabs
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
American journal of medical genetics 2002;110(2):95-102.
2002: D Holmes Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Richard I Kelley
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Pediatrics 2002;109(6):999-1008.
2002: Richard I Kelley; Ivona Takada
Hereditary periodic fever.
The New England journal of medicine 2002;346(18):1415-6; author reply 1415-6.
2002: Quanbo Xiong; Benfang Ruan; Frank G Whitby; Richard P Tuohy; Thomas L Belanger; Richard I Kelley; William K Wilson; George J Schroepfer
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.
Chemistry and physics of lipids 2002;115(1-2):1-15.
2001: Hans R Waterham; Jan Koster; Gerrit Jan Romeijn; Raoul Hennekam; Peter Vreken; Hans Andersson; D R FitzPatrick; Richard I Kelley; Ronald J A Wanders
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
American journal of human genetics 2001;69(4):685-94.
2001: MICHELE MAZZOCCO; Richard I Kelley
Preliminary evidence for a cognitive phenotype in Barth syndrome.
American journal of medical genetics 2001;102(4):372-8.
2001: K W Seo; Richard I Kelley; S Okano; T Watanabe
Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(8):602-5.
2001: D Haas; Richard I Kelley; G F Hoffmann
Inherited disorders of cholesterol biosynthesis.
Neuropediatrics 2001;32(3):113-22.
2001: Benfang Ruan; William K Wilson; Jihai Pang; N Gerst; F D Pinkerton; J Tsai; Richard I Kelley; Frank G Whitby; D M Milewicz; James Y Garbern; George J Schroepfer
Sterols in blood of normal and Smith-Lemli-Opitz subjects.
Journal of lipid research 2001;42(5):799-812.
2001: Sander M Houten; Jan Koster; Gerrit Jan Romeijn; Joost Frenkel; Maja Di Rocco; Ubaldo Caruso; P Landrieu; Richard I Kelley; Wietse Kuis; Bwee Tien Poll-The; K M Gibson; Ronald J A Wanders; Hans R Waterham
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
European journal of human genetics : EJHG 2001;9(4):253-9.
2001: Christopher A Wassif; P Zhu; Lisa Kratz; Patrycja A Krakowiak; Kevin P Battaile; Forrest F Weight; Alexander Grinberg; Robert D Steiner; Ngozi A Nwokoro; Richard I Kelley; Randall R Stewart; Forbes D Porter
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Human molecular genetics 2001;10(6):555-64.
2001: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Prenatal diagnosis 2001;21(3):207-12.
2001: Raquel Dodelson de Kremer; Ana Paschini-Capra; S Bacman; Carlos E Argaraña; Gabriel Civallero; Richard I Kelley; Norberto Guelbert; Alexandra Latini; Inés Noher de Halac; A Giner-Ayala; J Johnston; R Proujansky; I Gonzalez; Catalina Depetris-Boldini; A Oller-Ramírez; Celia J Angaroni; R A Theaux; E Hliba; E Juaneda
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
American journal of medical genetics 2001;99(2):83-93.
2001: Satoko Kumada; M Hayashi; J Kenmochi; S Kurosawa; N Shimozawa; Lisa Kratz; Richard I Kelley; K Taki; M Okaniwa
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.
American journal of medical genetics 2001;98(3):250-5.
2001: Elaine Tierney; Ngozi A Nwokoro; Forbes D Porter; LS Freund; Jaswinder K Ghuman; Richard I Kelley
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
American journal of medical genetics 2001;98(2):191-200.
2001: Richard I Kelley; G E Herman
Inborn errors of sterol biosynthesis.
Annual review of genomics and human genetics 2001;2():299-341.
2001: Martina Witsch-Baumgartner; Elzbieta Ciara; Jürgen Löffler; HJ Menzel; U Seedorf; J Burn; Gabriele Gillessen-Kaesbach; G F Hoffmann; Barbara U Fitzky; H Mundy; P Clayton; Richard I Kelley; Malgorzata Krajewska-Walasek; Gerd Utermann
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
European journal of human genetics : EJHG 2001;9(1):45-50.
2000: jennifer johnston; Richard I Kelley; Thomas O Crawford; D Holmes Morton; Richa Agarwala; T Koch; Alejandro A Schäffer; Clair A Francomano; Leslie G Biesecker
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
American journal of human genetics 2000;67(4):814-21.
2000: Richard I Kelley; Raoul Hennekam
The Smith-Lemli-Opitz syndrome.
Journal of medical genetics 2000;37(5):321-35.
2000: DK Grange; Lisa Kratz; Nancy Braverman; Richard I Kelley
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
American journal of medical genetics 2000;90(4):328-35.
2000: Martina Witsch-Baumgartner; Barbara U Fitzky; M Ogorelkova; Hans Georg Kraft; Fabian F Moebius; Hartmut Glossmann; U Seedorf; Gabriele Gillessen-Kaesbach; G F Hoffmann; P Clayton; Richard I Kelley; Gerd Utermann
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
American journal of human genetics 2000;66(2):402-12.
2000: Richard I Kelley
Inborn errors of cholesterol biosynthesis.
Advances in pediatrics 2000;47():1-53.
2000: Elaine Tierney; Ngozi A Nwokoro; Richard I Kelley
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
Mental retardation and developmental disabilities research reviews 2000;6(2):131-4.
1999: Ayesha Ahmad; Andrea Amalfitano; Y T Chen; Priya S Kishnani; C Miller; Richard I Kelley
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
American journal of medical genetics 1999;86(5):503-4.
1999: Deborah W Neklason; K M Andrews; Richard I Kelley; James E Metherall
Biochemical variants of Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1999;85(5):517-23.
1999: Cedric H L Shackleton; Esther Roitman; Richard I Kelley
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency.
Steroids 1999;64(7):481-90.
1999: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency).
Steroids 1999;64(7):446-52.
1999: Nancy Braverman; Paul Lin; Fabian F Moebius; Cassandra Obie; Ann B Moser; Hartmut Glossmann; W R Wilcox; D L Rimoin; M Smith; Lisa Kratz; Richard I Kelley; David Valle
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Nature genetics 1999;22(3):291-4.
1999: Jonathan M Derry; E Gormally; Gary Means; W Zhao; A Meindl; Richard I Kelley; Y Boyd; Gail E Herman
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
Nature genetics 1999;22(3):286-90.
1999: Marjo S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; Richard I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
D-2-hydroxyglutaric aciduria: further clinical delineation.
Journal of inherited metabolic disease 1999;22(4):404-13.
1999: X Y Liu; Andrew W Dangel; Richard I Kelley; W Zhao; Paul Denny; M Botcherby; Bruce Cattanach; Jo Peters; P R Hunsicker; Ann-Marie Mallon; Mark A Strivens; R Bate; Webb Miller; M Rhodes; Steve D M Brown; Gail E Herman
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Nature genetics 1999;22(2):182-7.
1999: Richard I Kelley; W G Wilcox; M Smith; Lisa Kratz; Ann B Moser; D S Rimoin
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
American journal of medical genetics 1999;83(3):213-9.
1999: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.
The Journal of clinical endocrinology and metabolism 1999;84(3):1157-9.
1999: Thomas O Crawford; John T Sladky; O Hurko; A Besner-Johnston; Richard I Kelley
Abnormal fatty acid metabolism in childhood spinal muscular atrophy.
Annals of neurology 1999;45(3):337-43.
1999: Lisa Kratz; Richard I Kelley
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1999;82(5):376-81.
1999: Linda A Bradley; Glenn E Palomaki; George J Knight; James E Haddow; J M Opitz; Mira Irons; Richard I Kelley; Stephen G Tint
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
American journal of medical genetics 1999;82(4):355-8.
1999: DP Bick; D McCorkle; W S Stanley; H J Stern; P Staszak; Gary D Berkovitz; C M Meyers; Richard I Kelley
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.
Prenatal diagnosis 1999;19(1):68-71.
1998: A J Anderson; M J Stephan; William O Walker; Richard I Kelley
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
American journal of medical genetics 1998;78(5):413-8.
1998: DD Hinson; Z R Rogers; Georg F Hoffmann; M Schachtele; R Fingerhut; Alfried Kohlschuetter; Richard I Kelley; K Michael Gibson
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
American journal of medical genetics 1998;78(5):408-12.
1998: Richard I Kelley
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.
American journal of human genetics 1998;63(2):322-6.
1997: jennifer johnston; Richard I Kelley; A Feigenbaum; G F Cox; G S Iyer; Vicky L Funanage; R Proujansky
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
American journal of human genetics 1997;61(5):1053-8.
1997: ALEXANDER HOON JR.; Elsie M Reinhardt; Richard I Kelley; SN Breiter; D Holmes Morton; Sakkubai Naidu; Michael V Johnston
Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.
The Journal of pediatrics 1997;131(2):240-5.
1997: L Squires; B Betz; J Umfleet; Richard I Kelley
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Developmental medicine and child neurology 1997;39(4):267-9.
1997: Akira Honda; Stephen G Tint; G Salen; Richard I Kelley; M Honda; A K Batta; T S Chen; S Shefer
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome.
American journal of medical genetics 1997;68(3):282-7.
1997: Angela E Lin; H H Ardinger; R H Ardinger; Christopher Cunniff; Richard I Kelley
Cardiovascular malformations in Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1997;68(3):270-8.
1997: Christopher Cunniff; Lisa Kratz; Ann B Moser; M R Natowicz; Richard I Kelley
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
American journal of medical genetics 1997;68(3):263-9.
1997: Richard I Kelley
A new face for an old syndrome.
American journal of medical genetics 1997;68(3):251-6.
1996: Leslie G Biesecker; S Kang; Alejandro A Schäffer; M Abbott; Richard I Kelley; J C Allen; C Clericuzio; T Grebe; A Olney; J M Graham
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
Journal of medical genetics 1996;33(11):947-51.
1996: M R Natowicz; J E Evans; Richard I Kelley; Ann B Moser; Paul A Watkins; H W Moser
Urinary bile acids and peroxisomal bifunctional enzyme deficiency.
American journal of medical genetics 1996;63(2):356-62.
1995: T Siebler; W Lopaczynski; C L Terry; S J Casella; P Munson; D D De Leon; L Phang; Karin J Blakemore; R C McEvoy; Richard I Kelley
Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15.
The Journal of clinical endocrinology and metabolism 1995;80(12):3447-57.
1995: Toshifumi Aoyama; M Souri; S Ushikubo; T Kamijo; S Yamaguchi; Richard I Kelley; W J Rhead; K Uetake; K Tanaka; Takao Hashimoto
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
The Journal of clinical investigation 1995;95(6):2465-73.
1995: Richard I Kelley; Lisa Kratz
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.
Pediatric research 1995;37(5):671-4.
1995: Richard I Kelley
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.
Clinica chimica acta; international journal of clinical chemistry 1995;236(1):45-58.
1995: Dianne Abuelo; Stephen G Tint; Richard I Kelley; A K Batta; S Shefer; G Salen
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
American journal of medical genetics 1995;56(3):281-5.
1995: Judith P. Rossiter; K J Hofman; Richard I Kelley
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
American journal of medical genetics 1995;56(3):272-5.
1995: Ingrid Tein; A E Sloane; E J Donner; Denis C Lehotay; D S Millington; Richard I Kelley
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
Pediatric neurology 1995;12(1):21-30.
1994: Richard I Kelley
The role of carnitine supplementation in valproic acid therapy.
Pediatrics 1994;93(6 Pt 1):891-2.
1993: Richard I Kelley
Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 1993;220(2):157-64.
1993: Toshifumi Aoyama; Y Uchida; Richard I Kelley; M Marble; K Hofman; James H Tonsgard; W J Rhead; Takao Hashimoto
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
Biochemical and biophysical research communications 1993;191(3):1369-72.
1993: Richard I Kelley
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.
Journal of inherited metabolic disease 1993;16(5):918-9.
1992: Richard I Kelley
Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase.
Biochemical and biophysical research communications 1992;182(3):1002-7.
1992: Richard I Kelley; J N Stamas
Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.
Journal of inherited metabolic disease 1992;15(1):97-104.
1991: Richard I Kelley
Octenylsuccinic aciduria in children fed protein-hydrolysate formulas containing modified cornstarch.
Pediatric research 1991;30(6):564-9.
1991: J Aikawa; W W Chen; Richard I Kelley; K Tada; Hugo W Moser; G L Chen
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(22):10084-8.
1991: Richard I Kelley; J P Cheatham; B J Clark; M A Nigro; B R Powell; G W Sherwood; J T Sladky; W P Swisher
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
The Journal of pediatrics 1991;119(5):738-47.
1991: D H Morton; M J Bennett; LORNE SEARGEANT; C A Nichter; Richard I Kelley
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
American journal of medical genetics 1991;41(1):89-95.
1991: Jutta Gärtner; W W Chen; Richard I Kelley; Stephanie J Mihalik; Hugo W Moser
The 22-kD peroxisomal integral membrane protein in Zellweger syndrome--presence, abundance, and association with a peroxisomal thiolase precursor protein.
Pediatric research 1991;29(2):141-6.
1990: D H Morton; Richard I Kelley
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples.
The Journal of pediatrics 1990;117(3):439-42.
1989: Richard I Kelley; Stanton Segal
Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing.
The Journal of laboratory and clinical medicine 1989;114(2):152-6.
1989: Richard I Kelley; D M Feinberg; Stanton Segal
Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.
Human genetics 1989;82(2):99-103.
1989: Paul A Watkins; W W Chen; C J Harris; Gerald Hoefler; S Hoefler; D C Blake; A Balfe; Richard I Kelley; Ann B Moser; M E Beard
Peroxisomal bifunctional enzyme deficiency.
The Journal of clinical investigation 1989;83(3):771-7.
1988: R Heidenreich; M Natowicz; B E Hainline; P Berman; Richard I Kelley; R E Hillman; Gerard T Berry
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.
The Journal of pediatrics 1988;113(6):1022-7.
1988: Douglas C Wallace; X X Zheng; M T Lott; J M Shoffner; J A Hodge; Richard I Kelley; C M Epstein; L C Hopkins
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease.
Cell 1988;55(4):601-10.
1988: Barbara E Corkey; Daniel Hale; M C Glennon; Richard I Kelley; P M Coates; Laurie E Kilpatrick; Charles A Stanley
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
The Journal of clinical investigation 1988;82(3):782-8.
1988: Richard I Kelley; D H Morton
3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.
Clinica chimica acta; international journal of clinical chemistry 1988;175(1):19-26.
1988: Richard I Kelley; M T Mennuti; W F Hickey; E H Zackai
X-linked recessive aqueductal stenosis without macrocephaly.
Clinical genetics 1988;33(5):390-4.
1987: M Natowicz; Richard I Kelley
Mendelian etiologies of stroke.
Annals of neurology 1987;22(2):175-92.
1987: B Taubman; Daniel Hale; Richard I Kelley
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Pediatrics 1987;79(3):382-5.
1987: M Natowicz; Richard I Kelley
Association of Turner syndrome with hypoplastic left-heart syndrome.
American journal of diseases of children (1960) 1987;141(2):218-20.
1987: J M Powers; R C Tummons; Ann B Moser; H W Moser; D S Huff; Richard I Kelley
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome.
Acta neuropathologica 1987;73(4):333-43.
1986: Richard I Kelley; J T Sladky
Dicarboxylic aciduria in an infant with spinal muscular atrophy.
Annals of neurology 1986;20(6):734-6.
1986: Richard I Kelley; P M Coates; Daniel Hale; C A Stanley
Metabolic disorder possible cause of Reye's syndrome.
American journal of diseases of children (1960) 1986;140(4):328-9.
1986: Richard I Kelley; Nabanita S Datta; W B Dobyns; Amiya K Hajra; Ann B Moser; M J Noetzel; E H Zackai; H W Moser
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
American journal of medical genetics 1986;23(4):869-901.
1984: Richard I Kelley; H W Moser
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.
American journal of medical genetics 1984;19(4):791-5.
1984: A E Moser; Inderjit Singh; Frank R Brown; G I Solish; Richard I Kelley; P J Benke; H W Moser
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
The New England journal of medicine 1984;310(18):1141-6.
1983: Richard I Kelley; P F Borns; D Nichols; E H Zackai
Osteoglophonic dwarfism in two generations.
Journal of medical genetics 1983;20(6):436-40.
1983: Richard I Kelley
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.
American journal of medical genetics 1983;16(4):503-17.
1983: C A Stanley; Daniel Hale; P M Coates; C L Hall; Barbara Corkey; W Yang; Richard I Kelley; E L Gonzales; J R Williamson; L Baker
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
Pediatric research 1983;17(11):877-84.
1983: Richard I Kelley; Barbara Corkey
Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A.
Journal of inherited metabolic disease 1983;6(4):158-62.
1983: Richard I Kelley; H Harris; W J Mellman
Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.
Human genetics 1983;63(3):274-9.
1982: Richard I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
The Journal of pediatrics 1982;101(2):197-200.
1982: Richard I Kelley; E H Zackai; E B Charney
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.
The Journal of pediatrics 1982;100(6):943-6.
1981: P A Benn; Richard I Kelley; W J Mellman; L Amer; F S Boches; H B Markus; W Nichols; B Hoffman
Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line.
Somatic cell genetics 1981;7(6):667-82.
1975: D Henner; Richard I Kelley; J J Furth
Transcription of fractionated calf thymus chromatin by RNA polymerase of calf thymus and Escherichia coli.
Biochemistry 1975;14(21):4764-71.
1973: Richard I Kelley
Isolation of a histone IIb1-IIb2 complex.
Biochemical and biophysical research communications 1973;54(4):1588-94.