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Clinical Genetics and Metabolism
Publications
Acosta PB, Yannicelli S, Ryan AS, Arnold G, Marriage BJ, Plewinska M, Bernstein L, Fox J, Lewis V, Miller M, Velazquez A. Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect. Mol Genet Metab. 2005 Dec;86(4):448-55. [PubMed]
Alkhateeb A, Fain PR, Spritz RA. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol. 2005 Aug;125(2):388-91. [PubMed]
Bar-Or D, Rael LT, Thomas GW, Kraus JP. Inhibitory effect of copper on cystathionine beta-synthase activity: protective effect of an analog of the human albumin N-terminus. Protein Pept Lett. 2005 Apr;12(3):271-3. [PubMed]
Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin Chem. 2005 Nov;51(11):2013-24. [PubMed]
Bernstein LB. PKU phenylalanine and metabolic syndrome. ADA Nutrition Care Manual; 2005. www.nutritioncaremanual.org
Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. [PubMed]
Cortes-Hernandez P, Dominguez-Ramirez L, Estrada-Bernal A, Montes-Sanchez DG, Zentella-Dehesa A, de Gomez-Puyou MT, Gomez-Puyou A, Garcia JJ. The inhibitor protein of the F1F0-ATP synthase is associated to the external surface of endothelial cells. Biochem Biophys Res Commun. 2005 May 13;330(3):844-9. [PubMed]
Elias ER, Tsai ACH, Manchester DK. Genetics and dysmorphology. In: Hay WW Jr., Hayward AR, Levin ML, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 17th ed. New York: McGraw Hill; 2005.
Gallagher RC, Cowan TM, Goodman SI, Enns GM. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab. 2005 Nov;86(3):417-20. [PubMed]
Greene CL, Thomas JA, Goodman SI. Inborn errors of metabolism. In: Hay WW Jr., Hayward AR, Levin ML, Sondheimer JM, Deterding RR, editors. Current pediatric diagnosis and treatment. 17th ed. New York: McGraw Hill; 2005.
Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20. [PubMed]
Jiang H, Rao KS, Yee VC, Kraus JP. Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. J Biol Chem. 2005 Jul 29;280(30):27719-27. [PubMed]
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. [PubMed]
Kreider JC, Blumberg MS. Geotaxis and beyond: commentary on Motz and Alberts (2005). Neurotoxicol Teratol. 2005 Jul-Aug;27(4):535-7; author reply 543-4. [PubMed]
Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, Fain PR, Spritz RA. Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res. 2005 Aug;18(4):300-5. [PubMed]
Laurino L, Wang XX, de la Houssaye BA, Sosa L, Dupraz S, Caceres A, Pfenninger KH, Quiroga S. PI3K activation by IGF-1 is essential for the regulation of membrane expansion at the nerve growth cone. J Cell Sci. 2005 Aug 15;118(Pt 16):3653-62. [PubMed]
Mendoza-Milla C, Machuca Rodriguez C, Cordova Alarcon E, Estrada Bernal A, Toledo-Cuevas EM, Martinez Martinez E, Zentella Dehesa A. NF-kappaB activation but not PI3K/Akt is required for dexamethasone dependent protection against TNF-alpha cytotoxicity in L929 cells. FEBS Lett. 2005 Jul 18;579(18):3947-52. [PubMed]
Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med. 2005 May;24(5):703-6. [PubMed]
Pazicni S, Cherney MM, Lukat-Rodgers GS, Oliveriusova J, Rodgers KR, Kraus JP, Burstyn JN. The heme of cystathionine beta-synthase likely undergoes a thermally induced redox-mediated ligand switch. Biochemistry. 2005 Dec 27;44(51):16785-95. [PubMed]
Rao KS, Albro M, Zirrolli JA, Vander Velde D, Jones DN, Frerman FE. Protonation of crotonyl-CoA dienolate by human glutaryl-CoA dehydrogenase occurs by solvent-derived protons. Biochemistry. 2005 Oct 25;44(42):13932-40. [PubMed]
Sauer SW, Okun JG, Schwab MA, Crnic LR, Hoffmann GF, Goodman SI, Koeller DM, Kolker S. Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem. 2005 Jun 10;280(23):21830-6. [PubMed]
Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am J Med Genet A. 2005 Aug 30;137(2):170-5. [PubMed]
Sonko BJ, Fennessey PV, Donnelly JE, Bessesen D, Sharp TA, Jacobsen DJ, Jones RH, Hill JO. Ingested fat oxidation contributes 8% of 24-h total energy expenditure in moderately obese subjects. J Nutr. 2005 Sep;135(9):2159-65. [PubMed]
Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med. 2005 Jul-Aug;7(6):444-53. [PubMed]
Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. J Dermatol Sci. 2006 Jan;41(1):3-10. [PubMed]
Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A. 2005 Aug 15;137(1):22-6. [PubMed]
Thomas JA, Greene CL, Cohn RM. Lysosomal storage, peroxisomal, and glycosylation disorders and Smith-Lemli-Opitz syndrome presenting in the newborn. In: Taeusch HW, Ballard RA, editors. Avery's diseases of the newborn. 8th ed. Philadelphia, Pennsylvania: Elsevier Saunders; 2005.
Tsai AC, Digiovanni M, Walton C, Cotter PD. De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3). Am J Med Genet A. 2005 Apr 15;134(2):229-30. [PubMed]
Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A. 2005 Jan 15;132(2):152-8. [PubMed]
Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis. 2005;28(5):651-63. [PubMed]
Wang D, Wei Y, Schmoll D, Maclean KN, Pagliassotti MJ. Endoplasmic reticulum stress increases glucose-6-phosphatase and glucose cycling in liver cells. Endocrinology. 2006 Jan;147(1):350-8. [PubMed]
2004
Akahoshi K, Spritz RA, Fukai K, Mitsui N, Matsushima K, Ohashi H. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia. Am J Med Genet A. 2004 Apr 30;126(3):290-2. [PubMed]
Al-Owain M, Freehauf C, Bernstein L, Kappy M, Thomas J. Growth hormone deficiency associated with methylmalonic acidemia. J Pediatr Endocrinol Metab. 2004 Feb;17(2):239-43. [PubMed]
Bar-Or D, Curtis CG, Sullivan A, Rael LT, Thomas GW, Craun M, Bar-Or R, Maclean KN, Kraus JP. Plasma albumin cysteinylation is regulated by cystathionine beta-synthase. Biochem Biophys Res Commun. 2004 Dec 24;325(4):1449-53. [PubMed]
Brynda J, Rezacova P, Fabry M, Horejsi M, Stouracova R, Sedlacek J, Soucek M, Hradilek M, Lepsik M, Konvalinka J. A phenylnorstatine inhibitor binding to HIV-1 protease: geometry, protonation, and subsite-pocket interactions analyzed at atomic resolution. J Med Chem. 2004 Apr 8;47(8):2030-6. [PubMed]
Brynda J, Rezacova P, Fabry M, Horejsi M, Stouracova R, Soucek M, Hradilek M, Konvalinka J, Sedlacek J. Inhibitor binding at the protein interface in crystals of a HIV-1 protease complex. Acta Crystallogr D Biol Crystallogr. 2004 Nov;60(Pt 11):1943-8. [PubMed]
Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan;46(1):3-14. [PubMed]
Crnic LS, Hagerman R. Preface: fragile X syndrome: frontiers of understanding gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev. 2004;10(1):1-2. [PubMed]
Driscoll LL, Carroll JC, Moon J, Crnic LS, Levitsky DA, Strupp BJ. Impaired sustained attention and error-induced stereotypy in the aged Ts65Dn mouse: a mouse model of Down syndrome and Alzheimer's disease. Behav Neurosci. 2004 Dec;118(6):1196-205. [PubMed]
Friedman JF, Bernstein L, Kim Y, reviewers. PKU phenylalanine and metabolic syndrome. ADA Nutrition Care Manual; 2004: www.nutritioncaremanual.org
Fu Z, Wang M, Paschke R, Rao KS, Frerman FE, Kim JJ. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Biochemistry. 2004 Aug 3;43(30):9674-84. [PubMed]
Gardiner K, Davisson MT, Crnic LS. Building protein interaction maps for Down syndrome. Brief Funct Genomic Proteomic. 2004 Aug;3(2):142-56. [PubMed]
Goodman SI. Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge. J Inherit Metab Dis. 2004;27(6):801-3. [PubMed]
Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004 Nov 23;63(10):1847-53. [PubMed]
Koeller DM, Sauer S, Wajner M, de Mello CF, Goodman SI, Woontner M, Muhlhausen C, Okun JG, Kolker S. Animal models for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):813-8. [PubMed]
Kolker S, Strauss KA, Goodman SI, Hoffmann GF, Okun JG, Koeller DM. Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27(6):843-9. [PubMed]
Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood. 2004 May 15;103(10):3915-23. [PubMed]
Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. Hum Mutat. 2004 Oct;24(4):352-3. [PubMed]
Maclean KN, Kraus E, Kraus JP. The dominant role of Sp1 in regulating the cystathionine beta-synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factors. J Biol Chem. 2004 Mar 5;279(10):8558-66. [PubMed]
Maclean KN, Kraus JP. Hydrogen sulfide production and metabolism in mammalian tissues. In: Wang R, editor. Signal transduction and the gasotransmitters, NO, CO, and H2S in biology and medicine. Totowa, New Jersey: Humana Press; 2004.
Mierau GW, Tyson RW, Freehauf CL. Role of electron microscopy in the diagnosis of mitochondrial cytopathies. Pediatr Dev Pathol. 2004 Nov-Dec;7(6):637-40. [PubMed]
Miles EW, Kraus JP. Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem. 2004 Jul 16;279(29):29871-4. [PubMed]
Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat. 2004 Feb;23(2):206. [PubMed]
Muhlhausen C, Ergun S, Strauss KA, Koeller DM, Crnic L, Woontner M, Goodman SI, Ullrich K, Braulke T. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. J Inherit Metab Dis. 2004;27(6):829-34. [PubMed]
Naughten ER, Mayne PD, Monavari AA, Goodman SI, Sulaiman G, Croke DT. Glutaric aciduria type I: outcome in the Republic of Ireland. J Inherit Metab Dis. 2004;27(6):917-20. [PubMed]
Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome. 2004 Apr;15(4):307-14. [PubMed]
Pazicni S, Lukat-Rodgers GS, Oliveriusova J, Rees KA, Parks RB, Clark RW, Rodgers KR, Kraus JP, Burstyn JN. The redox behavior of the heme in cystathionine beta-synthase is sensitive to pH. Biochemistry. 2004 Nov 23;43(46):14684-95. [PubMed]
Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med. 2004 Jan-Feb;6(1):61-5. [PubMed]
Salviati L, Freehauf C, Sacconi S, DiMauro S, Thomas J, Tsai AC. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A. 2004 Jul 15;128A(2):195-8. [PubMed]
Simkovic M, Frerman FE. Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase. Biochem J. 2004 Mar 1;378(Pt 2):633-40. [PubMed]
Spritz RA, Gowan K, Bennett DC, Fain PR. Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet. 2004 Jan;74(1):188-91. [PubMed]
Spritz RA, Itin PH, Gutmann DH. Piebaldism and neurofibromatosis type 1: horses of very different colors. J Invest Dermatol. 2004 Feb;122(2):xxxiv-xxxv. [PubMed]
Tsai AC, Gibby T, Beischel L, McGavran L, Johnson JP. A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13. Am J Med Genet A. 2004 Apr 15;126(2):208-12. [PubMed]
Tsai C. Internvention program. In: Ming LL, editor. Metabolic diseases, Taiwan experience. Taipei, Taiwan, Yee-Shaun; 2004. (Chinese).
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004 May;113(5):e448-57. [PubMed]
Van Hove J, Vande Kerckhove K. PKU praktische gids voor patiënten en zorgverleners. [P.K.U. practical guide for patients and caregivers]. Leuven, Belgium: Acco; 2004.
2003
Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, Goossens W, Goemans N, Sutherland GR, Van Hove JL. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003 May 27;60(10):1679-81. [PubMed]
Cashman JR, Camp K, Fakharzadeh SS, Fennessey PV, Hines RN, Mamer OA, Mitchell SC, Nguyen GP, Schlenk D, Smith RL, Tjoa SS, Williams DE, Yannicelli S. Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. Curr Drug Metab. 2003 Apr;4(2):151-70. [PubMed]
Chun-Hui Tsai A, Gibby T, Beischel L, McGavran L, Johnson JP. A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13. Am J Med Genet. 2004 Apr 15;126A(2):208-12. [PubMed]
Donnelly JE, Hill JO, Jacobsen DJ, Potteiger J, Sullivan DK, Johnson SL, Heelan K, Hise M, Fennessey PV, Sonko B, Sharp T, Jakicic JM, Blair SN, Tran ZV, Mayo M, Gibson C, Washburn RA. Effects of a 16-month randomized controlled exercise trial on body weight and composition in young, overweight men and women: the Midwest Exercise Trial. Arch Intern Med. 2003 Jun 9;163(11):1343-50. [PubMed]
Elias E, Tsai C-H, Manchester DK, Genetics and dysmorphology. In: Hay WW Jr., Hayward AR, Levin MJ, Sondheimer JM, editors. Current pediatric diagnosis and treatment. 16th ed. New York: McGraw-Hill; 2003.
Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct;18(10):1740-7. [PubMed]
Greene CL, Thomas JA, Goodman SI. Inborn errors of metabolism. In: Hay WW Jr., Hayward AR, Levin MJ, Sondheimer JM, editors. Current pediatric diagnosis and treatment. 16th ed. New York: McGraw-Hill; 2003.
Hamosh A, Van Hove J. Concerns regarding transience and heterozygosity in neonatal hyperglycenemia. Ann Neurol. 2003 May;53(5):685. [PubMed]
Hill JM, Ades AM, McCune SK, Sahir N, Moody EM, Abebe DT, Crnic LS, Brenneman DE. Vasoactive intestinal peptide in the brain of a mouse model for Down syndrome. Exp Neurol. 2003 Sep;183(1):56-65. [PubMed]
Loo SK, Specter E, Smolen A, Hopfer C, Teale PD, Reite ML. Functional effects of the DAT1 polymorphism on EEG measures in ADHD. J Am Acad Child Adolesc Psychiatry. 2003 Aug;42(8):986-93. [PubMed]
Meier M, Oliveriusova J, Kraus JP, Burkhard P. Structural insights into mutations of cystathionine beta-synthase. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. [PubMed]
Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003;26(8):761-73. [PubMed]
Rao KS, Albro M, Vockley J, Frerman FE. Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity. J Biol Chem. 2003 Jul 18;278(29):26342-50. [PubMed]
Sonko BJ, Miller LV, Jones RH, Donnelly JE, Jacobsen DJ, Hill JO, Fennessey PV. Multi-point estimation of total energy expenditure: a comparison between zinc-reduction and platinum-equilibration methodologies. Anal Biochem. 2003 Dec 15;323(2):211-7. [PubMed]
Stewart JM. Bradykinin antagonists as anti-cancer agents. Curr Pharm Des. 2003;9(25):2036-42. [PubMed]
Thomas JA, Bernstein L, Freehauf C, Amos K. Network PKU [DVD]. University of Colorado Denver, producer. Denver, Colorado: Applied Nutrition Corp; 2003. 1 DVD: sound, color. Accompanied by: 1 guide.
Thomas JA, Greene CL. Newborn genetic screening. In: Berman S, editor. Pediatric decision making. 4th ed. Philadelphia: Mosby; 2003.
Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet. 2003 Jun 1;119A(2):111-20. [PubMed]
Thureen PJ, Melara D, Fennessey PV, Hay WW Jr. Effect of low versus high intravenous amino acid intake on very low birth weight infants in the early neonatal period. Pediatr Res. 2003 Jan;53(1):24-32. [PubMed]
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet. 2003 Nov 15;123A(1):84-90. [PubMed]
Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S. Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. J Inherit Metab Dis. 2003;26(1):72-4. [PubMed]
Tsai AC, Greene CL. Birth defects and dysmorphic features. In: Berman S, editor. Pediatric decision making. 4th ed. Philadelphia: Mosby; 2003.
Tsai, AC, Stool SE, Post JC. Phylogenetic aspects and embryology. In: Bluestone C, Stool SE, Alper CM, Arjmand EM, Casselbrant ML, Dohar JE, Yellon RF, editors. Pediatric otolaryngology. Philadelphia: Saunders; 2003.
Tsai AC, Vallee SE. Genetics, syndromology, and craniofacial anomalies. In: Bluestone C, Stool SE, Alper CM, Arjmand EM, Casselbrant ML, Dohar JE, Yellon RF, editors. Pediatric otolaryngology. Philadelphia: Saunders; 2003.
Tsai AC, Walton C, Berman S. Cleft lip and cleft palate. In: Berman S, editor. Pediatric decision making. 4th ed. Philadelphia: Mosby; 2003.
Van Hove JL. LeuvMethoden in het Biomedisch Onderzoek, partim Analytische Biochemie [Methods in Biomedical Sciences, part Analytical Biochemistry]. Leuven, Belgium: Acco; 2003.
Van Hove JL, Grunewald S, Jaeken J, Demaerel P, Declercq PE, Bourdoux P, Niezen-Koning K, Deanfeld JE, Leonard JV. D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet. 2003 Apr 26;361(9367):1433-5. [PubMed]
Van Hove JL, Wevers RA, Van Cleemput J, Moerman P, Sciot R, Matthijs G, Schollen E, de Jong JG, Carey WF, Muller V, Nicholls C, Perkins K, Hopwood JJ. Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. Am J Med Genet. 2003 May 1;118A(4):382-7. [PubMed]
Vercammen L, Buyse GM, Proost JE, Van Hove JL. Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy. J Inherit Metab Dis. 2003;26(6):611-2. [PubMed]
Westover JB, Goodman SI, Frerman FE. Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer. Mol Genet Metab. 2003 Aug;79(4):245-56. [PubMed]
Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL, Ward JC. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis. 2003;26(8):805-809. [PubMed]
Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M, Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold GL. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab. 2003 Sep-Oct;80(1-2):181-8. [PubMed]
2002
Alkhateeb A, Stetler GL, Old W, Talbert J, Uhlhorn C, Taylor M, Fox A, Miller C, Dills DG, Ridgway EC, Bennett DC, Fain PR, Spritz RA. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet. 2002 Mar 15;11(6):661-7. [PubMed]
Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP. Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 2002 Jun;19(6):629-40. [PubMed]
Crnic LS. The Colorado mental retardation and developmental disabilities research center. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):297-9. [PubMed]
Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002 Aug;20(2):117-26. [PubMed]
Goodman S, Binard R, Woontner M, Frerman F. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab. 2002 Sep;77(1-2):86. [PubMed]
Granholm AC, Ford KA, Hyde LA, Bimonte HA, Hunter CL, Nelson M, Albeck D, Sanders LA, Mufson EJ, Crnic LS. Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome. Physiol Behav. 2002 Nov;77(2-3):371-85. [PubMed]
Hyde LA, Crnic LS. Reactivity to object and spatial novelty is normal in older Ts65Dn mice that model Down syndrome and Alzheimer's disease. Brain Res. 2002 Jul 26;945(1):26-30. [PubMed]
Jones PM, Tjoa S, Fennessey PV, Goodman SI, Bennett MJ. Addition of quantitative 3-hydroxy-octadecanoic acid to the stable isotope gas chromatography-mass spectrometry method for measuring 3-hydroxy fatty acids. Clin Chem. 2002 Jan;48(1):176-9. [PubMed]
Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002 Feb15;108(1):16-22. [PubMed]
Kim JJP, Zhang J, Frerman FE. Three dimensional structure of porcine electron transfer flavoprotein-ubiquinone oxidoreductase in flavins and flavoproteins. In: Chapman SK, Perham RN, Scrutton NS, editors. Flavins and flavoproteins 2002: proceedings of the fourteenth international symposium, St. John's College, University of Cambridge, UK, July 14-18, 2002. Berlin: Rudolph Weber Agency for Scientific Publications; 2002.
Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI. Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet. 2002 Feb 15;11(4):347-57. [PubMed]
Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002 Aug;25(4):299-314. [PubMed]
Maclean KN, Gaustadnes M, Oliveriusova J, Janosik M, Kraus E, Kozich V, Kery V, Skovby F, Rudiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum Mutat. 2002 Jun;19(6):641-55. [PubMed]
Maclean KN, Janosik M, Kraus E, Kozich V, Allen RH, Raab BK, Kraus JP. Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae. J Cell Physiol. 2002 Jul;192(1):81-92. [PubMed]
Manchester DK, Elias E. Arthrogryposis, gastroschisis and spinal cord atresia with dysmorphic features: a variant of dyssegmental dysplasia or a new syndrome? Am J Hum Genet. 2002 Oct;71(4):255.
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. [PubMed]
Nielsen DM, Crnic LS. Automated analysis of foot-shock sensitivity and concurrent freezing behavior in mice. J Neurosci Methods. 2002 Apr 15;115(2):199-209. [PubMed]
Nielsen DM, Crnic LS. Elevated plus maze behavior, auditory startle response, and shock sensitivity in predisease and in early stage autoimmune disease MRL/lpr mice. Brain Behav Immun. 2002 Feb;16(1):46-61. [PubMed]
Narkewicz MR, Jones G, Thompson H, Kolhouse F, Fennessey PV. Folate cofactors regulate serine metabolism in fetal ovine hepatocytes. Pediatr Res. 2002 Oct;52(4):589-94. [PubMed]
Oliveriusova J, Kery V, Maclean KN, Kraus JP. Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation. J Biol Chem. 2002 Dec 13;277(50):48386-94. [PubMed]
Pacheco TR, Bellus GA, Oreskovich NM, Talbert J, Old W, Fain PR. Exclusion of candidate genes and loci for multiple lentigines syndrome. J Invest Dermatol. 2002 Aug;119(2):535-8. [PubMed]
Rao KS, Vander Velde D, Dwyer TM, Goodman SI, Frerman FE. Alternate substrates of human glutaryl-CoA dehydrogenase: structure and reactivity of substrates, and identification of a novel 2-enoyl-CoA product. Biochemistry. 2002 Jan 29;41(4):1274-84. [PubMed]
Ratnam S, Maclean KN, Jacobs RL, Brosnan ME, Kraus JP, Brosnan JT. Hormonal regulation of cystathionine beta-synthase expression in liver. J Biol Chem. 2002 Nov 8;277(45):42912-8. [PubMed]
Simkovic M, Degala GD, Eaton SS, Frerman FE. Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. Biochem J. 2002 Jun 15;364(Pt 3):659-67. [PubMed]
Skovby F, Kraus JP. The homocystinurias. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. New York: Wiley-Liss; 2002.
Stabler SP, Steegborn C, Wahl MC, Oliveriusova J, Kraus JP, Allen RH, Wagner C, Mudd SH. Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism. 2002 Aug;51(8):981-8. [PubMed]
Startari U, Taylor MRG, Sinagra G, Di Lenarda A, Mestroni L. Cardimiopatia dilatativa: eziologiz, criteri cliici di diagnsi e screening della forma familiare. Italian Heart J. 2002;3:378-85.
Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar;30(3):321-4. [PubMed]
Tsai CH, Graw SL, McGavran L. 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J Med Genet 2002 Oct;39(10):769-74. [PubMed]
Tsai AC, Robertson JR, Teebi AS. Teebi hypertelorism syndrome: Report of a family with previously unrecognized findings. Am J Med Genet. 2002 Dec 1;113(3):302-6. [PubMed]
2001
Akahoshi K, Fukai K, Kato A, Kimiya S, Kubota T, Spritz RA. Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation. Am J Med Genet. 2001 Dec 15;104(4):299-302. [PubMed]
Bruno S, Schiaretti F, Burkhard P, Kraus JP, Janosik M, Mozzarelli A. Functional properties of the active core of human cystathionine beta-synthase crystals. J Biol Chem. 2001 Jan 5;276(1):16-9. [PubMed]
Chiang PW, Carpenter LE, Hagerman PJ. The 5'-untranslated region of the FMR1 message facilitates translation by internal ribosome entry. J Biol Chem. 2001 Oct 12;276(41):37916-21. [PubMed]
Chisholm CA, Vavelidis F, Lovell MA, Sweetman L, Roe CR, Roe DS, Frerman FE, Wilson WG. Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes. Prenat Diagn. 2001 Oct;21(10):856-9. [PubMed]
Chohan KK, Jones M, Grossmann JG, Frerman FE, Scrutton NS, Sutcliffe MJ. Protein dynamics enhance electronic coupling in electron transfer complexes. J Biol Chem. 2001 Sep 7;276(36):34142-7. [PubMed]
Dierssen M, Fillat C, Crnic L, Arbones M, Florez J, Estivill X. Murine models for Down syndrome. Physiol Behav. 2001 Aug;73(5):859-71. Review. [PubMed]
Dwyer TM, Rao KS, Westover JB, Kim JJ, Frerman FE. The function of Arg-94 in the oxidation and decarboxylation of glutaryl-CoA by human glutaryl-CoA dehydrogenase. J Biol Chem. 2001 Jan 5;276(1):133-8. [PubMed]
Elias ER, Kochevar IE, Taylor CR. Photosensitivity in patients with the Smith-Lemli-Opitz Syndrome. In: Proceedings of the 51st American Society of Human Genetics Conference; 2001 Oct 12-16; San Diego. Am J Hum Genet. 2001;69(4 Suppl):478.
Goodman SI. Prenatal diagnosis of glutaric acidemias. Prenat Diagn. 2001 Dec;21(13):1167-8. [PubMed]
Hoplight BJ, Sherman GF, Hyde LA, Denenberg VH. Effects of neocortical ectopias and environmental enrichment on Hebb-Williams maze learning in BXSB mice. Neurobiol Learn Mem. 2001 Jul;76(1):33-45. [PubMed]
Huang TT, Carlson EJ, Kozy HM, Mantha S, Goodman SI, Ursell PC, Epstein CJ. Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice. Free Radic Biol Med. 2001 Nov 1;31(9):1101-10. [PubMed]
Hyde LA, Crnic LS. Age-related deficits in context discrimination learning in Ts65Dn mice that model Down syndrome and Alzheimer's disease. Behav Neurosci. 2001 Dec;115(6):1239-46. [PubMed]
Hyde LA, Crnic LS, Pollock A, Bickford PC. Motor learning in Ts65Dn mice, a model for Down syndrome. Dev Psychobiol. 2001 Jan;38(1):33-45. [PubMed]
Hyde LA, Frisone DF, Crnic LS. Ts65Dn mice, a model for Down syndrome, have deficits in context discrimination learning suggesting impaired hippocampal function. Behav Brain Res. 2001 Jan 8;118(1):53-60. [PubMed]
Hyde LA, Hoplight BJ, Harding S, Sherman GF, Mobraaten LE, Denenberg VH. Effects of ectopias and their cortical location on several measures of learning in BXSB mice. Dev Psychobiol. 2001 Dec;39(4):286-300. [PubMed]
Irons M, Elias ER, Bay C, Pober B, Tint GS, Salen S. Improvement in sterol levels with cholesterol therapy in Smith-Lemli-Opitz Syndrome. In: Proceedings of the 51st American Society of Human Genetics Conference; 2001 Oct 12-16; San Diego. Am J Hum Genet. 2001;69(4 Suppl):679.
Janosik M, Kery V, Gaustadnes M, Maclean KN, Kraus JP. Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry. 2001 Sep 4;40(35):10625-33. [PubMed]
Janosik M, Meier M, Kery V, Oliveriusova J, Burkhard P, Kraus JP. Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease. Acta Crystallogr D Biol Crystallogr. 2001 Feb;57(Pt 2):289-91. [PubMed]
Janosik M, Oliveriusova J, Janosikova B, Sokolova J, Kraus E, Kraus JP, Kozich V. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet. 2001 Jun;68(6):1506-13. [PubMed]
Kraus JP, Kozich V. Cystathionine beta-Synthase and its deficiency. In: Jacobsen DW, Carmel R, editors. Homocysteine in health and disease. New York: Cambridge University Press; 2001.
Linnebank M, Homberger A, Kraus JP, Harms E, Kozich V, Koch HG. Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Hum Mutat. 2001 Apr;17(4):350-1. [PubMed]
Meier M, Janosik M, Kery V, Kraus JP, Burkhard P. Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J. 2001 Aug 1;20(15):3910-6. [PubMed]
Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Vallee D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001.
Oh J, LeCras TD, Spritz RA. Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus. Mamm Genome. 2001 Jun;12(6):466-8. [PubMed]
Reichel JL, Weston WL, Bellus G, Morelli J. What syndrome is this? Ehlers-Danlos syndrome. Pediatr Dermatol. 2001 Mar-Apr;18(2):156-8. [PubMed]
Schroeder SR, Oster-Granite ML, Berkson G, Bodfish JW, Breese GR, Cataldo MF, Cook EH, Crnic LS, DeLeon I, Fisher W, Harris JC, Horner RH, Iwata B, Jinnah HA, King BH, Lauder JM, Lewis MH, Newell K, Nyhan WL, Rojahn J, Sackett GP, Sandman C, Symons F, Tessel RE, Thompson T, Wong DF. Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev. 2001;7(1):3-12. [PubMed]
Schueck, ND, Woontner M, Koeller DM. The role of the mitochondrion in cellular iron homeostasis. Mitochondrion 2001;1:51-60.
Sokolova J, Janosikova B, Terwilliger JD, Freiberger T, Kraus JP, Kozich V. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat. 2001 Dec;18(6):548-9. [PubMed]
Sozen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet. 2001 Oct;29(2):141-2. [PubMed]
Spritz RA. Albinism. In: Brenner S, Miller J, editors. Encyclopedia of genetics. New York: Academic Press; 2001.
Spritz RA. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr. 2001 Dec;13(6):556-60. [PubMed]
Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics. 2001 Nov;78(1-2):30-7. [PubMed]
Taylor MR. Consultation with the specialist: The Pierre Robin sequence: a concise review for the practicing pediatrician. Pediatr Rev. 2001 Apr;22(4):125-30. [PubMed]
Taylor MR. Genetic testing for inherited breast and ovarian cancer syndromes: important concepts for the primary care physician. Postgrad Med J. 2001 Jan;77(903):11-5. [PubMed]
Taylor MR, Alman A, Manchester DK. Use of the Internet by patients and their families to obtain genetics-related information. Mayo Clin Proc. 2001 Aug;76(8):772-6. [PubMed]
Toyofuku K, Wada I, Spritz RA, Hearing VJ. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J. 2001 Apr 15;355(Pt 2):259-69. [PubMed]
Turner CA, Presti MF, Newman HA, Bugenhagen P, Crnic L, Lewis MH. Spontaneous stereotypy in an animal model of Down syndrome: Ts65Dn mice. Behav Genet. 2001 Jul;31(4):393-400. [PubMed]
Vadon-Le Goff S, Delaforge M, Boucher JL, Janosik M, Kraus JP, Mansuy D. Coordination chemistry of the heme in cystathionine beta-synthase: formation of iron(II)-isonitrile complexes. Biochem Biophys Res Commun. 2001 May 4;283(2):487-92. [PubMed]
Washington KA, Hoffenberg EJ, Tsai C-H, Elias ER. Unusual GI pathology in a patient with Rett Syndrome. In: Proceedings of the 51st American Society of Human Genetics Conference; 2001 Oct 12-16; San Diego. Am J Hum Genet. 2001;69(4 Suppl):290.
Watanabe Y, Murray JC, Bjork BC, Bird CP, Chiang PW, Gregory SG, Kurnit DM, Schutte BC. Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. Hum Mutat. 2001 Nov;18(5):422-34. [PubMed]
Westover JB, Goodman SI, Frerman FE. Binding, hydration, and decarboxylation of the reaction intermediate glutaconyl-coenzyme A by human glutaryl-CoA dehydrogenase. Biochemistry. 2001 Nov 20;40(46):14106-14. [PubMed]
Wong JM, Harper PA, Meyer UA, Bock KW, Morike K, Lagueux J, Ayotte P, Tyndale RF, Sellers EM, Manchester DK, Okey AB. Ethnic variability in the allelic distribution of human aryl hydrocarbon receptor codon 554 and assessment of variant receptor function in vitro. Pharmacogenetics. 2001 Feb;11(1):85-94. [PubMed]
1999-2000
Acosta P, Yannicelli S. Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria. Biol Trace Elem Res. 1999;67:75-84. [PubMed].
Acosta P, Yannicelli S, Bernstein LE. Protein status of infants with phenylketonuria undergoing nutrition management. J Am Coll Nutr. 1999;18(2):102-7. [PubMed]
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 May;8(5):743-9. [PubMed]
Baser ME, Evans DG, Jackler RK, Sujansky E, Rubenstein A. Neurofibromatosis 2, radiosurgery and malignant nervous system tumors. Br J Cancer. 2000 Feb; 82(4):998. [PubMed]
Bernstein LE, Freehauf C, Soheap N, Niel J, Greene C. Eat right, stay bright, guide for hyperphenylalaninemia. Sci Hosp Supplies Int. 2000.
Bernstein LE. "Organic acidemia" diet management of methylmalonic acid and propionic acid - Mead Johnson. 4th ed. Caduceus Med Publishers, Inc.; January 2000.
Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet. 2000 Feb;66(2):347-55. [PubMed]
Crnic LS, Pennington BF. Down syndrome: neuropsychology and animal models. Prog Infancy Res. 2000;1:69-111.
de Franchis R, Kraus E, Kozich V, Sebastio G, Kraus JP. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat. 1999;13(6):453-7. [PubMed]
Dwyer TM, Mortl S, Kemter K, Bacher A, Fauq A, Frerman FE. The intraflavin hydrogen bond in human electron transfer flavoprotein modulates redox potentials and may participate in electron transfer. Biochemistry. 1999 Jul 27;38(30):9735-45. [PubMed]
Dwyer TM, Rao KS, Goodman SI, Frerman FE. Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase. Biochemistry. 2000 Jun;39:11488-99. [PubMed]
Dwyer TM, Zhang L, Muller M, Marrugo F, Frerman FE. The functions of the flavin contact residues, alphaArg249 and betaTyr16, in human electron transfer flavoprotein. Biochem Biophys Acta. 1999 Aug 17;1433(1-2):139-52. [PubMed]
Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr. 2000 Feb;136(2):251-4. [PubMed]
Freedenberg DL, Gane LW, Richards CS, Lampe M, Hills J, O'Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman RJ, Patil SR. Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. Am J Med Genet. 1999 Jul 30:85(3):197-201. [PubMed]
Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Gianotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation. 2000 Jul 25;102(4):432-7. [PubMed]
Granholm AC, Sanders LA, Crnic LS. Loss of cholinergic phenotype in basal forebrain coincides with cognitive decline in a mouse model of Down syndrome. Exp Neurol. 2000 Feb;161(2):647-63. [PubMed]
Graw SL, Sample T, Bleskan J, Sujansky E, Patterson D. Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. Am J Hum Genet. 2000 Mar;66(3):1138-44. [PubMed]
Hayward AR, Manchester DK. DiGeorge syndrome. Encyclopedia of immunologic disorders. In press.
Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ. Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb;46(2):149-55. [PubMed]
Kery V, Poneleit L, Meyer JD, Manning MC, Kraus JP. Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase. Biochemistry. 1999 Mar 2;38(9):2716-24. [PubMed]
Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet. 1999 Jul;65(1):59-67. [PubMed]
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-75. [PubMed]
Marcus AC, Ahnen D, Cutter G, Calonge N, Russell S, Sedlacek SM, Wood M, Manchester D, Fox L, McCaskill-Stevens W, Fairclough D, Hines S, Wenzel L, Osborn K. Promoting cancer screening among the first-degree relatives of breast and colorectal cancer patients: the design of two randomized trials. Prev Med. 1999 Mar;28(3):229-42. [PubMed]
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr., Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999 Aug;8(8):1461-72. [PubMed]
Melov S, Coskun P, Patel M, Tuinstra R, Cottrell B, Jun AS, Zastawny TH, Dizdaroglu M, Goodman SI, Huang TT, Miziorko H, Epstein CJ, Wallace DC. Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc Natl Acad Sci USA. 1999 Feb 2;96(3):846-51. [PubMed]
Narkewicz MR, Moores RR Jr, Battaglia FC, Frerman FE. Ontogeny of serine hydroxymethyltransferase isoenzymes in fetal sheep liver, kidney, and placenta. Mol Genet Metab. 1999 Dec;68(4):473-80. [PubMed]
Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman SI. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab. 1999 Mar;66(3):199-204. [PubMed]
Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet. 2000 Feb 12;9(3):375-85. [PubMed]
Orendac M, Muskova B, Richterova E, Zvarova J, Stefek M, Zaykova E, Kraus JP, Stribrny J, Hyanek J, Kozich V. Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis. 1999 Jun;22(5):674-5. [PubMed]
Prahalad AK, Manchester DK, Hsu IC, Inmon J, Gallagher JE. Human placental microsomal activation and DNA adduction by air pollutants. Bull Environ Contam Toxicol. 1999 Jan;62(1):93-100. [PubMed]
Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet. 2000 Jul;67(1):203-6. [PubMed]
Roberts DL, Salazar D, Fulmer JP, Frerman FE, Kim JJ. Crystal structure of Paracoccus denitrificans electron transfer flavoprotein: structural and electrostatic analysis of a conserved flavin binding domain. Biochemistry. 1999 Feb 16;38(7):1977-89. [PubMed]
Sakic B, Laflamme N, Crnic LS, Szechtman H, Denburg JA, Rivest S. Reduced corticotropin-releasing factor and enhanced vasopressin gene expression in brains of mice with autoimmunity-induced behavioral dysfunction. J Neuroimmunol. 1999 Apr 1;96(1):80-91. [PubMed]
Skovby F, Kraus JP. The homocystinurias. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders. New York: Wiley-Liss. In press.
Spector EB, Seltzer WK, Goodman SI. Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization. Mol Genet Metab. 1999 Aug;67(4):364-7. [PubMed]
Spritz RA. Chediak-Higashi Syndrome. In: Ochs HD, Smith CI, Puck JM, editors. Primary immunodeficiency diseases: a molecular and genetic approach. New York: Oxford University Press; 1999 p. 389-96.
Spritz RA. Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. Pigment Cell Res [review]. 2000 Feb;13(1):15-20. Review. [PubMed]
Spritz RA. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast. Trends Genet. 1999 Sep;15(9):337-40. [PubMed]
Spritz RA. Multi-organellar disorders of pigmentation: tied up in traffic. Clin Genet. 1999 May;55(5):309-17. [PubMed]
Spritz RA, Oh J. HPS gene mutations in Hermansky-Pudlak syndrome. Am J Hum Genet. 1999 Feb;64(2):658. [PubMed]
Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug;25(4):427-30. [PubMed]
Tassone F, Lucas R, Slavov D, Kavsan V, Crnic LS, Gardiner K. Gene expression relevant to Down syndrome: problems and approaches. J Neural Transm Suppl. 1999;57:179-95. [PubMed]
Thomas J, Bernstein LE, Greene CL, Koeller D. Apparent decreased caloric requirements in children with organic acidemias: apreliminary observation. J Am Diet Assoc. 2000 Sept;100(9):1074-6. [PubMed]
Thomas J, Cohn R, Greene C. Storage diseases. In: Taeusch HW, Balard RA, editors. Shaffer and Avery's diseases of the newborn. 7th ed. Philadelphia: W.B. Saunders Co. In press.
Woontner M, Crnic LS, Koeller DM. Analysis of the expression of murine glutaryl-CoA dehydrogenase: in vitro and in vivo studies. Mol Genet Metab. 2000 Feb;69(2):116-22. [PubMed]
1997-1998 Publications
Acosta P, Yannicelli S, Arnold G, Cho S, Cowger M, Marriage B, Bernstein L, et al. Nutrition status of infants with PKU undergoing therapy. J Pediat Gastroenterol Nutr 1998;27:287-9.
Anderson AH, Fennessey PV, Meschia G, Wilkening RB, Battaglia FC. Placental transport of theonine and its utilization in the normal and growth-restricted fetus. Am J Physiol 1997;72:Endocrinol Metab 35;E892-E900.
Bao L, Vlcek C, Paces V, Kraus JP. Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms. Arch Biochem Biophys 1998;350:95-103.
Baric I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Muller E, Morton DH, Superti-Furga A, Hoffmann GF. Diagnosis and management of glutaric aciduria type I. J Inher Metab Dis 1998;21:326-40.
Baumbach AD, Rothner E, Sujansky E, et al. Seqmental neurofibromatosis: clinical data from forty isolated and familial cases. Presented at: The 48th Annual Meeting of the American Society of Human Genetics; October 1998.
Bellus GA, Baker A, Spector EB, Hunter AGW, Hecht J, Lewanda AF, Szabo J, Francomano CA. Mutational analysis of FGFR3 in thanatophoric dysplasia, type 1. Presented at: The 47th Annual Meeting of the American Society of Human Genetics; 1997; Baltimore. Am J Hum Genet 1997; 61:A326.
Bernstein L, Freehauf C, Greene G. Eat right stay bright guide for hyperphenylalaninemia. Chapters: birth to five years, the elementary school years. Sci Hosp Supplies Int 1998.
Carver TD, Quick AA, Teng CC, Pike AW, Fennessey PV, Hay WW Jr. Leucine metabolism in chronically hypoglycemic hypoinsulinemic growth-restricted fetal sheep. Am J Physiol 1997;272:Endocrinol Metab 35.
Crnic LS. Spatial and visual discrimination reversal learning deficits in the Ts65Dn mouse, a model of Down syndrome. Neurosci Abstr 1997;24:1364.
Crnic LS, Kelly MT. Ts65Dn model of Down syndrome (DS): Radial maze learning and contextual conditioning. Neurosci Abstr 1998;24.
Dawson PA, Cox AJ, Emmerson BT, Dudman NPB, Kraus JP, Gordon, RB. Characterization of five missense mutations in the cystathionine beta-synthase gene from three patients with B6 nonresponsive homocystinuria. Eur J Hum Genet 1997;5:15-21.
Dong A, Kery V, Matsuura J, Manning MC, Kraus JP, Carpenter JF. Secondary structure of recombinant human cystathionine beta-synthase in aqueous solution - effect of ligand binding and proteolytic truncation. Arch Biochem Biophys 1997;344:125-32.
Dwyer TM, Griffin KJ, Frerman FE. Investigation of the alphaT244M mutation in paracoccus denitrificans electron transfer flavoprotein. In: Stevenson KJ, Massey V, Williams CH, editors. Flavins and flavoproteins. 1st ed. Calgary: University of Calgary Press; 1997. p. 519-22.
Fouty B, Frerman FE, Reves R. Riboflavin reverses nucleoside analog-induced lactic acidosis in HIV-infected patients. Lancet 1998;352:291-2.
Friel JK, Serfass RE, Fennessey PV, Miller LV, Andrews WL, Simmons BS, Downton GF, Ginkwa P. Elevated intakes of zinc infant formulas do not interfere with iron absorption in premature infants. J Ped Gastroenter Nutr 1998.
Gaustadnes M, Kluijtmans LA, Jensen OK, Rasmussen K, Heil SG, Kraus JP, Blom HJ, Ingerslev J, Rudiger N. Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. FEBS Lett. 1998 Jul 17;431(2):175-9.
Goodman SI, Stein DE, Scjesomger S, Cjrostemsem E, Scjwartz M, Greenberg CR, Elpeleg ON. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (Type I): review and report of thirty novel mutations. Hum Mutat 1998;12:141-4.
Gordon R.B, Cox AJ, Dawson PA, Emmerson BT, Kraus JP, Dudman NPB. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Hum Mutat Brief 1997;120.
Granholm A-Ch, Curtis M, Sanders LA, Crnic LS. Segmental trisomy Ts65Dn mice have a decrease in nerve growth factor receptors in septal forebrain neurons. Neurosci Abstr 1998;24.
Greene C, Goodman SI. Catastrophic metabolic encephalopathies in the newborn period: Evaluation and management. Clin Perinatol 1997;24:773-86.
Griffin KJ, DeGala GD, Eisenreich W, Muller F, Bacher A, Frerman FE. 31P-NMR spectroscopy of human and Paracoccus denitrificans electron transfer flavoproteins and 13C- and 15N-NMR spectroscopy of human electron transfer flavoprotein in the oxidized and reduced states. Eur J Biochem 1998;255:125-32.
Griffin KJ, Dwyer TM, Manning MC, Meyer JD, Caprenter JF, Frerman FE. alphaT244M mutation affects the redox, kinetic, and in vitro folding properties of paracoccus denitrificans electron transfer flavoprotein. Biochemistry 1997;36.14:419420-02.
Howard R, Frieden IJ, Crawford D, McCalmont T, Levy ML, Rosenblatt DS, Sweetman L, Goodman SI, Ohnstad C, Hart K, et al. Methylmalonic acidemia, coblamin C type, presenting with cutaneous manifestations. Arch Dermatol 1997;133:1563-6.
Horwitz LD, Sherman NA, Kong Y, Pike AW, Gobin J, Fennessey PV, Horwitz MA. Lipophilic siderophores of mycobacterium tuberculosis prevent cardiac reperfusion injury. Proc Natl Acad Sci USA 1998;95:5263-8.
Kery V, Poneleit L, Kraus JP. Trypsin cleavage of human cystathionine beta-synthase into an evolutionary conserved 45kDa active core: Structural and functional consequences. Arch Biochem Biophys 1998;355:222-32.
Kozich V, Janosik M, Sokolová J, Oliveriusova J, Orendac M, Kraus JP, Elleder D. Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223+37 del 99. J Inher Metab Dis 1997;20:363-6.
Kraus JP. Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. Eur J Pediat 157 suppl 1998;2:S50-S53.
Kraus JP. Genetic determinants for mild hyperhomocysteinemias; May 1997; Prague, Czech Republic.
Kraus JP. Molecular genetics of cystathionine beta-synthase in homocystinuria and vascular disease in homocysteine metabolism. In: Graham I, Refsum H, Rosenberg IH, Ueland, PM, editors. From science to clinical medicine. Boston: Kluwer Academic Publishers; 1997. p. 69-76.
Kraus JP, Oliveriusova J, Sokolova J, Kraus E, Vlcek C, de Franchis R, Maclean KN, Bao L, Bukovsk, Patterson D, Paces V, Ansorge W, Kozich V. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics. 1998 Sep 15;52(3):312-24.
Kruse CA, Varella-Garcia M, Kleinschmidt-DeMasters BK, Owens GC, Spector EB, Fakhrai H, Savelieva E, Liang B. Receptor expression, cytogenetic, and molecular analysis of six continuous human glioma cell lines. In Vitro Cell Dev Biol 1998;34:455-62.
Leslie KK, Reznikov L, Thompson LC, Chapman AB, Fennessey PV. A case of reversible renal insufficiency accompanying intrahepatic cholestasis of pregnancy. Am J Obstet Gynec 1998.
Menter AR, Crnic, LS. Interferon alpha modulates habituation to acoustic startle and exploration of the elevated plus maze in hybrid mice. Clin Res 1997;45.
Nance MA and the U.S. Huntington Disease Genetic Testing Group. Genetic testing of children at risk for Huntington's disease. Neurology 1997;49:1048-53.
Nance MA, Spector EB and the United States Huntington Disease Genetic Testing Group. Genetic testing for Huntington disease in the US, 1993-1996. Presented at: The American College of Medical Genetics; 1997; Ft. Lauderdale.
Nance MA, Spector EB and the United States Huntington Disease Genetic Testing Group. Voluntary monitoring of predictive testing programs for Huntington disease in the United States. Presented at: The 47th Annual Meeting of the American Society of Human Genetics; 1997; Baltimore. Am J Hum Genet 1997;6:A225.
Nance MA, Spector EB and the United States Huntington Disease Genetic Testing Group. Anonymous predictive testing for Huntington disease in the United States. Presented at: The 47th Annual Meeting of the American Society of Human Genetics; 1997; Baltimore. Am J Hum Genet 1997;61:A228.
Okey AB, Giannone JV, Smart W, Wong JMY, Manchester DK, Parker NB, Feeley MM, Grant DL, Gilman A. Binding of 2,3,7,8-tetrachlorodibenzo-p-dioxin to Ah receptor in placentas from normal versus abnormal pregnancy outcomes. Chemosphere 1997;34:1535-47.
Perera FP, Whyatt RM, Jedrdrychowski W, Rauh V, Manchester D, Santella RM, Ottman R. A study of the effects of environmental polycyclic aromatic hydrocarbons on birth outcomes in Poland. Am J Epidemiol 1998;147:309-14.
Priest JH, Brothman AR, Adams WR, Christine B, Flejter W, Varella-Garcia M, Haag MM, Henry GP, Hobart HH, Spector EB, et al. Assessment of clinical cytogenetic laboratories: A five-year experience in the Mountain States Regional Genetic Services Network (MSRGSN). Appl Cytogenet Assoc Gen Techno 1997;23:7-12.
Roberts DS, Frerman FE, Kim J-JP. Human electron transfer flavoprotein: three dimensional structure and a possible complex with medium chain acyl-coa dehydrogenase. In: Stevenson KJ, Massey V, Williams CH, editors. Flavins and flavoproteins. 1st ed. Calgary: University of Calgary Press; 1997. p. 523-6.
Salazar D, Zhang L, DeGala GD, Frerman FE. Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein. J Biol Chem 1997;272:26425-33.
Salazar D, Zhang L, Frerman FE. Expression and characterization of pathogenic mutations and a bY16L mutation in human electron transfer flavoprotein. In: Stevenson KJ, Massey V, Williams CH, editors. Flavins and flavoproteins. 1st ed. Calgary: University of Calgary Press; 1997. p. 93-6.
Schrott LM, Crnic, LS. Attenuation of behavioral abnormalities in autoimmune mice by chronic soluble interferon-gamma receptor treatment. Brain Behav Immunol 1998;12:90-106.
Spector EB, Taylor L, Roser K, O'Brien C, Seeberger L, Quince C, Arciniegas D, Manchester D, Leehey M. Variable phenotype and genomic instability in individuals with 36-39 CAG repeats in one Huntington disease gene. Presented at: The 47th Annual Meeting, American Society of Human Genetics. Am J Hum Genet 1997;61:A320.
Thomas JA. Novel mutations in the methionine adenosyltransferase 1A gene that cause isolated persistent hypermethioninemia. Presented at: The 47th Annual Meeting of the American Society of Human Genetics; 1997; Baltimore. Am J Hum Genet 61:A1448.
Van Hummelen P, Manchester D, Lowe X, Wyroebek A. Meiotic segregation, recombination and gamete assessed in a reciprocal translocation carrier t(1;10)(p22.1;q22.3) by three-and four-probe multi-color FISH in sperm. Am J Hum Genet 1997;61:651-9.
Whyatt RM, Bell DA, Jedrychowski W, Santella RM, Garte SJ, Cosma G, Manchester DK, Young TL, Cooper TB, Ottman R, Perera FP. Polycyclic aromatic hydrocarbon-DNA adducts in human placenta and modulation by CYP1A1 induction and genotype. Carcinogenesis. 1998 Aug;19(8):1389-92.
Whyatt RM, Santella RM, Jedrychowshki W, Garte SJ, Bell DA, Ottmann R, Gladek-Yarborough A, Cosma G, Young T-L, Coper T, Randall M, Manchester DK, et al. Relationship between ambient air pollution and DNA damage in Polish mothers and newborns. Environ Health Perspect 1998;106:821-6.
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