Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Kathleen Sawin"'
Autor:
Felicia L. Trachtenberg, Danielle Hollenbeck-Pringle, Maria I. Van Rompay, Victoria L. Pemberton, Lisa Young-Borkowski, Patricia Infinger, Carolyn Dunbar-Masterson, Karen Uzark, Kathleen Sawin, Kathleen A. Mussatto, Patricia Walter
Publikováno v:
J Fam Nurs
Survival for hypoplastic left heart syndrome (HLHS) has improved dramatically. Little is known about early family function, quality of life (QOL), or well-being/adjustment for parents of infants with HLHS. Parent/family outcomes over time, predictors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b5f471223324968d841e4406081c51f
https://europepmc.org/articles/PMC8594631/
https://europepmc.org/articles/PMC8594631/
Autor:
Simon G. Gregory, Philip Mack, W. Jerry Oakes, Nicole Lasarsky, Mark S. Dias, Bermans J. Iskandar, Elli Meeropol, David G. McLone, Connie Buran, Kristen L. Deak, Timothy J. Brei, Marion L. Walker, Joanne Mackey, Joanna Aben, Arthur S. Aylsworth, Gordon Worley, Timothy M. George, Paula Peterson, Marcy C. Speer, Joann Bodurtha, Allison E. Ashley-Koch, Kathleen Sawin, Deborah G. Siegel, Joy Ito, Cynthia M. Powell
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 82:662-669
Background Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for iden
Autor:
Deborah G. Siegel, Arthur S. Aylsworth, Joy Ito, Elli Meeropol, John R. Gilbert, Philip Mack, W. Jerry Oakes, Demetra S. Stamm, David G. McLone, Joann Bodurtha, Timothy J. Brei, Diane Hu-Lince, Marion L. Walker, Joanne Mackey, Evadnie Rampersaud, Susan H. Slifer, Joanna Aben, Bermans J. Iskandar, Lorraine Mehltretter, David Craig, Jianzhen Xie, Nicole Lasarsky, Cynthia M. Powell, Marcy C. Speer, Connie Buran, Kathleen Sawin, Gordon Worley, Dietrich A. Stephan, Timothy M. George
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 76:499-505
BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTD
Autor:
Kathleen Sawin, Timothy M. George, Connie Buran, Timothy J. Brei, Bermans J. Iskandar, Marion L. Walker, Arthur S. Aylsworth, Margaret E. Dickerson, Elizabeth C. Melvin, Mark S. Dias, Alexander G. Bassuk, Elwood Linney, Joy Ito, Lorraine Mehltretter, Preston Hammock, Joanna Aben, Felicia L. Graham, Kristen L. Deak, David S. Enterline, Paxila Peterson, Cynthia M. Powell, Gordon Worley, Marcy C. Speer, Joann Bodurtha, Philip Mack, W. Jerry Oakes, John A. Kessler, Elli Meeropol, Deborah G. Siegel, Joanne Mackey, David G. McLone, John R. Gilbert, Nicole Lasarsky
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 73:868-875
BACKGROUND Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained
Autor:
Timothy M. George, Joann Bodurtha, Joanna Aben, Mark S. Dias, Evadnie Rampersaud, Jeffrey S. Nye, Deborah G. Siegel, Connie Buran, David G. McLone, Lorraine Mehltretter, Timothy J. Brei, Marion L. Walker, Nicole Lasarsky, Margaret E. Dickerson, Bonnie Ohm, Elizabeth C. Melvin, Arthur S. Aylsworth, Kathleen Sawin, Marcy C. Speer, W. Jerry Oakes, Cynthia M. Powell, Joy Ito, Bermans J. Iskandar, David S. Enterline, Paula Peterson
Publikováno v:
Clinical Genetics. 63:210-214
Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We ex
Publikováno v:
Journal of Holistic Nursing. 20:279-304
Adolescents with complex neurological conditions such as spina bifida require a holistic approach to their health care. Quality of Life (QOL) and the factors associated with QOL are important and understudied variables for these adolescents. A sample
Autor:
Kristi D. Viles, David S. Enterline, Mark S. Dias, Evadnie Rampersaud, Joanna Aben, Courtney R. Drake, Marcy C. Speer, Bonnie Ohm, Timothy M. George, Arthur S. Aylsworth, Bennans Iskandar, Connie Buran, David G. McLone, Joann Bodurtha, Gordon Worley, John R. Gilbert, Joy Ito, Cynthia M. Powell, Kathleen Sawin, Jeffery S. Nye, Paula Peterson, Timothy J. Brei, Marion L. Walker, Elizabeth C. Melvin, Nicole Lasarsky, Joanne Mackey, Kim A. Bauer, W. Jerry Oakes
Publikováno v:
American Journal of Medical Genetics. 110:215-218
We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of
Publikováno v:
The Journal of Perinatal Education. 11:22-34
Substantial progress in the medical treatment of individuals with spina bifida (SB) has increased the numbers who survive into adolescence and adulthood. However, sexual health in this population has not received much attention. This study explored t
Autor:
John R. Gilbert, David G. McLone, Timothy M. George, Elizabeth C. Melvin, Felicia L. Graham, Timothy J. Brei, Arthur S. Aylsworth, Kathleen Sawin, Marion L. Walker, Lisa P. Benz, Alexander G. Bassuk, Cynthia M. Powell, Marcy C. Speer, Paula Peterson, Mark S. Dias, Connie Buran, Gordon Worley, Preston Hammock, Philip Mack, John A. Kessler, Joann Bodurtha, W. Jerry Oakes, Elli Meeropol, Joanna Aben, Nicole Lasarsky, David S. Enterline, Joanne Mackey, Bermans J. Iskandar, Frances E. Swift, Joy Ito
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 70:531-533
BACKGROUND Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilatera
Autor:
Joy Ito, Deborah G. Siegel, Joanna Aben, Arthur S. Aylsworth, John R. Gilbert, Lorraine Mehltretter, David G. McLone, Connie Buran, Elli Meeropol, Nathen J. Ellis, Allison E. Ashley-Koch, Cynthia M. Powell, Joanne Mackey, Nicole Lasarsky, Victoria Zismann, Marcy C. Speer, Demetra S. Stamm, Philip Mack, W. Jerry Oakes, Simon G. Gregory, Joann Bodurtha, Timothy J. Brei, Michel Vekemans, Marion L. Walker, Alison Trott, Jessica J. Connelly, Kathleen Sawin, Bermans J. Iskandar, Gordon Worley, Dietrich A. Stephan, Timothy M. George
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 82(6)
BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs