Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Geraldine A McDowell"'
Publikováno v:
Genetics in Medicine. 11:669-681
This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the nec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1809f1d3b04dfc9c91ccbfbc086ca3ff
https://doi.org/10.1097/gim.0b013e3181ad5246
https://doi.org/10.1097/gim.0b013e3181ad5246
Autor:
Geraldine A McDowell, Arthur Zebelman, Geralyn Lambert-Messerlian, Alan E. Donnenfeld, Jo Ellen S Lee, Louis M. Neveux, Jacob A. Canick, Anne Summers, James E. Haddow, Leonard H. Kellner, Glenn E. Palomaki
Publikováno v:
Genetics in Medicine. 10:131-138
Purpose: To assess nuchal translucency measurements that were performed as part of routine prenatal screening for Down syndrome. Methods: Collect ultrasound measurements of nuchal translucency and crown rump length provided by individual sonographers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e57526fa300cd1305651c8fbac38e6
https://doi.org/10.1097/gim.0b013e3181616bf8
https://doi.org/10.1097/gim.0b013e3181616bf8
Publikováno v:
Genetics in Medicine. 7:344-354
Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ffa4d2a084d6fc76d375a9b0c8e5792
https://doi.org/10.1097/01.gim.0000167808.96439.f3
https://doi.org/10.1097/01.gim.0000167808.96439.f3
Autor:
Geraldine A McDowell, William E. Schreiber, Ronald J. Elin, David B. Endres, Edward Wang, Glenn E. Palomaki, George G. Klee
Publikováno v:
Archives of Pathology & Laboratory Medicine. 129:331-337
Context.—Most proficiency testing materials (PTM) contain an artificial matrix that may cause immunoassays to perform differently with this material than with clinical samples. We hypothesized that matrix effects would be reduced by using fresh fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276daca574fae1a214eed6345ac2b791
https://doi.org/10.5858/2005-129-331-coffst
https://doi.org/10.5858/2005-129-331-coffst
Autor:
Michael E. Watson, Carolyn Sue Richards, Robert J. Desnick, Arthur R. Brothman, Anne Maddalena, Matthew J. McGinniss, Peter B. Jacky, Daynna J. Wolff, Robert E Grier, Betsy A. Hirsch, Geraldine A McDowell, Bradley W. Popovich
Publikováno v:
Genetics in Medicine
Preface: The Quality Assurance subcommittee of the ACMG Laboratory Practice committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa1de8152d7bebd6394e0d5380f1f89
http://europepmc.org/articles/PMC3110344
http://europepmc.org/articles/PMC3110344
Publikováno v:
American Journal of Medical Genetics. 47:1092-1095
Intrafamilial variability has not been reported previously in Hurler syndrome or Sanfilippo syndrome type A. We describe two families in which sibs with comparable deficiencies of α-iduronidase (Hurler) or sulfamidase (Sanfilippo type A) activities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a8f39aff6f0d2495d0e76547d053753
https://doi.org/10.1002/ajmg.1320470732
https://doi.org/10.1002/ajmg.1320470732
Autor:
Ramakrishna Sista, Vamsee K. Pamula, Allen E. Eckhardt, Adviye A. Tolun, Geraldine A. McDowell, Marcia Eisenberg
Publikováno v:
Molecular Genetics and Metabolism. 114:S115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75c8e551f92eee1f319b4fceca70b8c5
https://doi.org/10.1016/j.ymgme.2014.12.261
https://doi.org/10.1016/j.ymgme.2014.12.261
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 7(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c5a7a7760a3a492c1b3cf9f2df1b0441
https://pubmed.ncbi.nlm.nih.gov/15915087
https://pubmed.ncbi.nlm.nih.gov/15915087
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 7(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::acdcc31f0fc378f6d5053da3328a98ea
https://pubmed.ncbi.nlm.nih.gov/15915088
https://pubmed.ncbi.nlm.nih.gov/15915088