Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lea M. Krein"'
Autor:
Patrick Van Roey, Ran D. Anbar, Karen Z. Voter, Catherine Kier, Zhen Zhang, Andrew Ting, Denise M. Kay, Allen J. Dozor, Norma P. Tavakoli, Maria Berdella, Danielle Goetz, Lea M. Krein, Colleen F. Stevens, Louis Guida, Michele Caggana, Breanne Maloney, Erin E. Hughes, Beth Vogel, Meyer Kattan, Paul G. Comber, Joan DeCelie-Germana, April Parker, Carlos A. Saavedra-Matiz
Publikováno v:
Human Mutation. 37:201-208
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::190840d4d08a36ca68b1d2461e0003f9
https://doi.org/10.1002/humu.22927
https://doi.org/10.1002/humu.22927
Autor:
Norma P. Tavakoli, Breanne Maloney, Lea M. Krein, Michele Caggana, Elinor Langfelder-Schwind, Catherine Kier, Joan DeCelie-Germana, Jack K. Sharp, Denise M. Kay, Carlos A. Saavedra-Matiz
Publikováno v:
Pediatric Pulmonology. 50:771-780
Summary Newborn screening for Cystic Fibrosis (CF) began in New York in October, 2002 using immunoreactive trypsinogen (IRT)/DNA methodology. Infants with at least one CFTR mutation or very high IRT and no mutations (VHIRT) are referred for sweat tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6e6971d0847f031f149a5e8ee5a9780
https://doi.org/10.1002/ppul.23222
https://doi.org/10.1002/ppul.23222
Autor:
Patricia Galvin-Parton, David A. Wenger, Melissa P. Wasserstein, Denise M. Kay, Joan E. Pellegrino, Lea M. Krein, David Kronn, Carlos A. Saavedra-Matiz, Michele Caggana, Richard W. Erbe, Jennifer M. Kwon, Maria L. Escolar, Alejandro D. Iglesias, Chad K. Biski, Natasha Shur, Monica Martin, Georgianne L. Arnold, Joseph J. Orsini, Paul A. Levy, Matthew Nichols, Joanne Kurtzberg, Darius J. Adams, Patricia K. Duffner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(3)
Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce705e5890c12e28f1928f7d14c75af
https://pubmed.ncbi.nlm.nih.gov/26845105
https://pubmed.ncbi.nlm.nih.gov/26845105
Autor:
Erin E, Hughes, Colleen F, Stevens, Carlos A, Saavedra-Matiz, Norma P, Tavakoli, Lea M, Krein, April, Parker, Zhen, Zhang, Breanne, Maloney, Beth, Vogel, Joan, DeCelie-Germana, Catherine, Kier, Ran D, Anbar, Maria N, Berdella, Paul G, Comber, Allen J, Dozor, Danielle M, Goetz, Louis, Guida, Meyer, Kattan, Andrew, Ting, Karen Z, Voter, Patrick, van Roey, Michele, Caggana, Denise M, Kay
Publikováno v:
Human mutation. 37(2)
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::317e2b8bdd675fa79bf0c31423e33617
https://pubmed.ncbi.nlm.nih.gov/26538069
https://pubmed.ncbi.nlm.nih.gov/26538069
Autor:
Beth Vogel, Emily C. McGrath, Lea M. Krein, Denise M. Kay, Norma P. Tavakoli, Breanne Maloney, Rhonda Hamel, Carlos A. Saavedra-Matiz, Lenore DeMartino, Michele Caggana, Melissa Pearce, Rebecca McMahon
Publikováno v:
European journal of pediatrics. 175(2)
Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84212ddf6041ce37ca7131743744be0
https://pubmed.ncbi.nlm.nih.gov/26293390
https://pubmed.ncbi.nlm.nih.gov/26293390
Autor:
Denise M, Kay, Elinor, Langfelder-Schwind, Joan, DeCelie-Germana, Jack K, Sharp, Breanne, Maloney, Norma P, Tavakoli, Carlos A, Saavedra-Matiz, Lea M, Krein, Michele, Caggana, Catherine, Kier, Robert, Giusti
Publikováno v:
Pediatric pulmonology. 50(8)
Newborn screening for Cystic Fibrosis (CF) began in New York in October, 2002 using immunoreactive trypsinogen (IRT)/DNA methodology. Infants with at least one CFTR mutation or very high IRT and no mutations (VHIRT) are referred for sweat testing. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6441218401bdce94a2801604988d686a
https://pubmed.ncbi.nlm.nih.gov/26098992
https://pubmed.ncbi.nlm.nih.gov/26098992
Autor:
Michele Caggana, Jason T. Isabelle, April Parker, Melissa L. Sweeney, Matthew Nichols, Salvatore J. Duva, Chad K. Biski, Lea M. Krein, Allison J. Young, Carlos A. Saavedra-Matiz, Lisa DiAntonio
Publikováno v:
Clinical chemistry. 59(7)
BACKGROUNDDried blood spot (DBS) samples have been widely used in newborn screening (NBS) for the early identification of disease to facilitate the presymptomatic treatment of congenital diseases in newborns. As molecular genetics knowledge and techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881d2ba9e4c5f82b389cee63e62246d
https://pubmed.ncbi.nlm.nih.gov/23529705
https://pubmed.ncbi.nlm.nih.gov/23529705