Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Joanne Mackey"'
Autor:
Joel Charrow, Joanne Mackey, Andrea Amalfitano, Suhrad G. Banugaria, Amy S. Rosenberg, Yuan-Tsong Chen, Stuti Das, Priya S. Kishnani, Trusha Patel
Publikováno v:
Molecular Genetics and Metabolism. 105:677-680
With the advent of enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA, Myozyme®) for Pompe disease, the clinical course of the disease has changed. We have previously described the poor outcome in cross reactive immunologic material (CR
Autor:
Peggy Malovrh, Sherry G. Grinnell, Stephanie DeArmey, Areeg El-Gharbawy, Greg Westby, Robert L. Conway, Priya S. Kishnani, Joanne Mackey
Publikováno v:
Molecular Genetics and Metabolism. 104:118-122
Purpose Pompe disease (PD) is a progressive metabolic myopathy for which the only available treatment is alglucosidase alfa (Myozyme®). Enzyme replacement therapy (ERT) has improved ventilator-free survival, and cardiac and motor functions in patien
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:
Priya S. Kishnani, Maryalice Worden, Claire Morgan, Deyanira Corzo, Allison Kinder Ross, Jennifer S. Li, Luke Y.-J. Wang, Stephanie DeArmey, Joanne Mackey
Publikováno v:
Pediatric Anesthesia. 17:738-748
Summary Background: Patients with infantile-onset Pompe disease suffer from marked hypertrophic cardiomyopathy and an increased risk of arrhythmia. A noncompliant left ventricle predisposes these infants to diastolic heart failure with elevated left
Autor:
Susan Bouchard, Donald P. Frush, Yuan-Tsong Chen, Rabi Hanna, Priya S. Kishnani, Claire Morgan, Anne Boney, Laura E. Case, Joanne Mackey, Vidya Krishnamurthy, Deyanira Corzo, Stephanie DeArmey, Thomas Weber
Publikováno v:
Pediatric Radiology. 37:437-445
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly a
Autor:
R. Rodney Howell, Robert D. Steiner, Barry J. Byrne, Cynthia J. Tifft, Anna Maria Martins, Steven Downs, Michael S. Watson, Alfred E. Slonim, Priya S. Kishnani, Carolyn T. Spencer, John Crowley, Richard M. Kravitz, Kenneth I. Berger, Deeksha Bali, Gwen O'Grady, Laura E. Case, Marc C. Patterson, Marc Nicolino, David M. Rapoport, David S. Millington, Deborah Marsden, Joanne Mackey
Publikováno v:
Genetics in Medicine
Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not nec
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:
Elli Meeropol, David G. McLone, N. Lasarsky, Arthur S. Aylsworth, K. Sawin, Philip Mack, Connie Buran, Jason D. Allen, Joanna Aben, Preston Hammock, Alexander G. Bassuk, Evadnie Rampersaud, Gordon Worley, David S. Enterline, Timothy J. Brei, Laura E. Mitchell, Marion L. Walker, Sandra G. West, Deborah G. Siegel, John A. Kessler, Bermans J. Iskandar, W. J. Oakes, Lorraine Mehltretter, Joanne Mackey, L. E. Floyd, Elizabeth C. Melvin, Marcy C. Speer, Roger E. Stevenson, Timothy M. George, Joy Ito, Jeffrey S. Nye, John R. Gilbert, Joann Bodurtha, Cynthia M. Powell
Publikováno v:
Journal of Medical Genetics. 42:940-946
Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50–70%; however, studies of folate related and other developmental genes
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