Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Nicole Lasarsky"'
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
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
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
Autor:
Philip Mack, Alexander G. Bassuk, Timothy J. Brei, Lorraine Mehltretter, Timothy M. George, Nicole Lasarsky, Elli Meeropol, Joanne Mackey, H. Frederik Nijhout, Deborah G. Siegel, Cynthia M. Powell, A. Alysworth, Abee L. Boyles, Connie Buran, David S. Enterline, Kathleen J. Sawin, Bermans J. Iskandar, Susan H. Slifer, Kristen L. Deak, Joy Ito, W. J. Oakes, Gordon Worley, David G. McLone, John R. Gilbert, Joann Bodurtha, Ashley V. Billups, Michael Walker, Marcy C. Speer, Joanna Aben, Michael C. Reed, John A. Kessler
Publikováno v:
Environmental Health Perspectives
Of 1,000 births worldwide, in one embryo the neural tube will fail to close properly 28 days after conception, resulting in some form of neural tube defect (NTD). Failed closure at the cranial end, known as anencephaly, is a lethal condition, whereas