Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Lynn D Fleisher"'
Autor:
Gerald L. Feldman, Gail E. Herman, Jane Peredo, Lynn D Fleisher, James P. Evans, Michael S. Watson, Judith Benkendorf, Maren T. Scheuner, Bruce Bowdish, John J. Mulvihill
Publikováno v:
Genetics in Medicine. 17:27-35
The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing. A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6730882111c0189f294816a081ce595c
https://doi.org/10.1038/gim.2014.165
https://doi.org/10.1038/gim.2014.165
Publikováno v:
American Journal of Orthodontics and Dentofacial Orthopedics. 129:571-573
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40523667a93a635e78b531ea9815d8b7
https://doi.org/10.1016/j.ajodo.2006.01.014
https://doi.org/10.1016/j.ajodo.2006.01.014
Autor:
Marie Y. Mann, Gurvaneet Randhawa, Beverly Dozier, Robert D. Steiner, R. Rodney Howell, Stephen M. Downs, W. Harry Hannon, Gary Hoffman, Sonia M. Suter, Bradford L. Therrell, Piero Rinaldo, Tricia Mullaley, Thomas F. Tonniges, Donald B. Bailey, Jennifer L. Howse, Lynn D. Fleisher, José F. Cordero, Fernando Guerra, Arnold W. Strauss, Kenneth A. Pass, James W. Hanson, Michael R. DeBaun, William Becker, Harvey L. Levy, Michael S. Watson, Edward B. Goldman, Scott D. McLean, Celia I. Kaye, Kelly R. Leight, Danielle Laraque, Barbara P. Yawn, Peter C. van Dyck, Mark A. Rothstein, Derek Robertson, George C. Cunningham, Anne M. Willey, Michele A. Lloyd-Puryear, Deborah Marsden, Cecilia Larson, Fred Lorey, Kathy Stagni, Jennifer M. Puck, James R. Eckman, Coleen A. Boyle, Franklin Desposito, E. Steven Edwards, Wanda Yazzie, Tracy L. Trotter, Stephen I. Goodman, Alex R. Kemper, Julie Miller
Publikováno v:
Pediatrics. 117(5 Pt 2)
The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99188265e1e6b12543cc3bcc76474bc2
https://pubmed.ncbi.nlm.nih.gov/16735256
https://pubmed.ncbi.nlm.nih.gov/16735256
Autor:
Laura J Cole, Lynn D Fleisher
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 5(3)
The Health Insurance Portability and Accountability Act of 1996 (HIPAA) created new requirements for health care providers to protect the privacy and security of individually identifiable health information. Regulations to implement HIPAA’s privacy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dac13a46a50e24ced0e195975f6203a
https://pubmed.ncbi.nlm.nih.gov/12792427
https://pubmed.ncbi.nlm.nih.gov/12792427
Autor:
Lynn D Fleisher
Publikováno v:
Genetics in Medicine. 3:285
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df8a5af42e86d4fce768a1bf51107592
https://doi.org/10.1097/00125817-200107000-00002
https://doi.org/10.1097/00125817-200107000-00002
Publikováno v:
Pediatric Research. 11:100-103
Summary: The thermostability of cystathionine synthase and the effect of pyridoxal phosphate (PLP) on this thermostability were investigated in extracts of normal human liver and in extracts of liver, both before and during pyridoxine (vitamin B6) th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f454860dc2b28b633c59f82f1cef94
https://doi.org/10.1203/00006450-197702000-00003
https://doi.org/10.1203/00006450-197702000-00003
Autor:
Lynn D. Fleisher, Gerald E. Gaull
Publikováno v:
Clinics in Endocrinology and Metabolism. 3:37-55
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36f06d527e9bd905ee47ccc35e201f06
https://doi.org/10.1016/s0300-595x(74)80024-1
https://doi.org/10.1016/s0300-595x(74)80024-1
Autor:
Gerald E. Gaull, Kurt Hirschhorn, Lynn D. Fleisher, Nicholas G. Beratis, Riccardo C. Longhi, Harris H. Tallan
Publikováno v:
The Journal of Pediatrics. 85:677-680
CYSTATHIONINE SYNTHASE DEFICIENCY (Fig. 1), which is inherited in an autosomal recessive manner , results in the clinical syndrome of homocystinuria. The full clinical picture is distinct 1 and may include dislocation of the optic lenses, progressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc81445444283d017849c8896a522493
https://doi.org/10.1016/s0022-3476(74)80516-0
https://doi.org/10.1016/s0022-3476(74)80516-0
Publikováno v:
Biochemical and Biophysical Research Communications. 55:38-44
Summary An assay for cystathionine synthase in cultured fibroblasts, of high sensitivity and not rate-limited for substrate, is described. Enzymatic activity was found to be highest in controls (mean ± SEM = 20.97 ± 1.81 nmole cystathionine/mg prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4478c46ee7907846d0c0a8864079e51b
https://doi.org/10.1016/s0006-291x(73)80056-7
https://doi.org/10.1016/s0006-291x(73)80056-7
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in 'maternal homocystinuria'
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 94(2)
Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e68aab1fd805f64772fe490b08c7465
https://pubmed.ncbi.nlm.nih.gov/455723
https://pubmed.ncbi.nlm.nih.gov/455723