Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Debra Freedenberg"'
Autor:
Philip J Lupo, Natalie P Archer, Rachel D Harris, Lisa K Marengo, Jeremy M Schraw, Adrienne T Hoyt, Susan Tanksley, Rachel Lee, Margaret Drummond-Borg, Debra Freedenberg, Priya B Shetty, A J Agopian, Charles Shumate, Sonja A Rasmussen, Peter H Langlois, Mark A Canfield
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0304238 (2024)
BackgroundEmerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects.MethodsThis population-b
Externí odkaz:
https://doaj.org/article/d266256bfa9c4df689b541added34df9
Autor:
Adrianna Evans, Keri LeBlanc, Natasha Bonhomme, Scott M. Shone, Amy Gaviglio, Debra Freedenberg, Jeremy Penn, Carol Johnson, Beth Vogel, Siobhan M. Dolan, Aaron J. Goldenberg
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 2, p 22 (2019)
Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn scr
Externí odkaz:
https://doaj.org/article/6a777bef40dd46e6bbbf46bff461ec4c
Autor:
Brendan Reilly, Rachel Lee, Patricia Hunt, Janice F. Jackson, Dorothy J. Mandell, Mark A. Canfield, Peter H. Langlois, Duke J. Ruktanonchai, Debra Freedenberg, Gary W. Rutenberg, John F. Villanacci, Fei Hua
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183:331-340
Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. We previously explored whether there was an association of ASD with any analyte measured in the first newborn screening blood tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1579a3bea8c11f3e80fd630ddfed4842
https://doi.org/10.1002/ajmg.b.32804
https://doi.org/10.1002/ajmg.b.32804
Autor:
Debra Freedenberg, Rachel Lee, Dorothy J. Mandell, John F. Villanacci, Brendan Reilly, Janice F. Jackson, Fei Hua, Peter H. Langlois, Mark A. Canfield, Duke J. Ruktanonchai, Gary W. Rutenberg, Patricia Hunt
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 180:291-304
Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. It is commonly diagnosed at 3 or 4 years of age. We explored whether there was an association of any analytes measured by newborn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55274361ef77671ad603e496e17e9972
https://doi.org/10.1002/ajmg.b.32728
https://doi.org/10.1002/ajmg.b.32728
Autor:
David T, Miller, Debra, Freedenberg, Elizabeth, Schorry, Nicole J, Ullrich, David, Viskochil, Bruce R, Korf, Joan M, Stoler
Publikováno v:
Pediatrics. 143
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da2f473889b276e6fba9e4fe06c5225
https://doi.org/10.1542/peds.2019-0660
https://doi.org/10.1542/peds.2019-0660
Autor:
Kimberlee Michals-Matalon, Kelly Fuller, Debra Freedenberg, Nancy Ross, Rachel Lombardo, Reuben Matalon, Kimberly Bilger
Publikováno v:
Journal of Nutritional Therapeutics. 4:28-32
Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth. More liberal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9351b6d4cb67a38eea3db3b30c5b249
https://doi.org/10.6000/1929-5634.2015.04.01.6
https://doi.org/10.6000/1929-5634.2015.04.01.6
Autor:
Keri LeBlanc, Beth Vogel, Amy Gaviglio, Scott M. Shone, Jeremy D. Penn, Aaron J. Goldenberg, Carol Johnson, Siobhan M. Dolan, Debra Freedenberg, Adrianna Evans, Natasha Bonhomme
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 2, p 22 (2019)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn scr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b93ac461f1a2840c9fe1801e3b6b5f1
https://doi.org/10.3390/ijns5020022
https://doi.org/10.3390/ijns5020022
Autor:
S. Shahrukh Hashmi, Mark A. Canfield, Karen B. Moffitt, Susan Tanksley, Lisa Marengo, Debra Freedenberg, Philip J. Lupo, John W. Belmont
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 94:1004-1009
BACKGROUND Craniosynostosis (CS), a structural anomaly characterized by premature fusion of cranial sutures, occurs in 1 in 2000 live births. Associations of CS with the thyroid have been reported. Neonatal thyroid hormone (T4) is evaluated nationall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1feeda40ce7ccfa1febd21499068987
https://doi.org/10.1002/bdra.23077
https://doi.org/10.1002/bdra.23077
Autor:
Sau Wai Cheung, Fernando Scaglia, Debra Freedenberg, Feng Zhang, Avinash V. Dharmadhikari, Ankita Patel, Shweta U. Dhar, Carlos A. Bacino, Sung Hae L. Kang, Mauricio R. Delgado, Pengfei Liu, Lane Strathearn, P. J. Hastings, LaDonna Immken, Adolfo D. Garnica, Theresa A. Grebe, Pamela Trapane, Sandesh C.S. Nagamani, M. Lance Cooper, Katarzyna E. Kolodziejska, Marjorie Withers, Dolores Hernández-Almaguer, Ayelet Erez, Joanna Wiszniewska, Weimin Bi, Hope Northrup, Pawel Stankiewicz, Luis Daniel Campos-Acevedo, James R. Lupski, Scott D. McLean, Seema R. Lalani
Publikováno v:
Cell. 146:889-903
SummaryComplex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are app
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c09580d95195ce5eb0b62fb3635d62
https://doi.org/10.1016/j.cell.2011.07.042
https://doi.org/10.1016/j.cell.2011.07.042
Autor:
Patricia I. Bader, M. Williams, Debra Freedenberg, Ankita Patel, Amy M. Breman, Melissa B. Ramocki, Sung-Hae L. Kang, Sau Wai Cheung
Publikováno v:
European Journal of Human Genetics. 19:409-415
Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile hypotonia, severe developmental delay, progressive neurological impairment, absent speech, and pron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f10ad7295249940ee6106d90f27a73
https://doi.org/10.1038/ejhg.2010.195
https://doi.org/10.1038/ejhg.2010.195