Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Marcy C. Speer"'
Autor:
Nathen J. Ellis, Karen Soldano, Heidi L. Cope, Allison E. Ashley-Koch, Melanie E. Garrett, Kaitlyn Dunlap, Simon G. Gregory, Marcy C. Speer, J. Michael Rusnak
Publikováno v:
Birth Defects Research Part B: Developmental and Reproductive Toxicology. 98:365-373
Neural tube defects (NTDs) are caused by improper neural tube closure during the early stages of embryonic development. NTDs are hypothesized to have a complex genetic origin and numerous candidate genes have been proposed. The nitric oxide synthase
Autor:
Melanie E. Garrett, Martha E. Payne, David C. Steffens, Brenda D. Jamerson, Marcy C. Speer, Allison E. Ashley-Koch
Publikováno v:
International Journal of Geriatric Psychiatry. 28:925-932
Objective The primary aims of this study were to 1) determine whether folate metabolism genetic polymorphisms predict age of onset and occurrence of late life depression and 2) determine whether folate metabolism genetic polymorphisms predict respons
Autor:
Roham Moftakhar, Allison E. Ashley-Koch, Marcy C. Speer, Christina A. Markunas, Simon G. Gregory, R. S. Tubbs, Bermans J. Iskandar, W J Oakes
Publikováno v:
Journal of Neurosurgery: Pediatrics. 9:372-378
Object Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study wa
Autor:
Janet Talbert, Anastasia L. Wise, James E. Loyd, Ivana V. Yang, Kenneth B. Adler, Marvin I. Schwarz, Roland M. du Bois, Kevin K. Brown, Christopher M. Evans, Steve D. Groshong, Corinne E. Hennessy, Michelle G. Roy, Anne L. Crews, Joungjoa Park, David A. Schwartz, Susan Slifer, Max A. Seibold, Mark P. Steele, Gunnar Gudmundsson, Aretha Herron, Marcy C. Speer, Tasha E. Fingerlin, Burton F. Dickey, Stavros Garantziotis, Cheryl Markin, Scott S. Auerbach, Jia Lin, Weiming Zhang, Dolly Kervitsky
Publikováno v:
New England Journal of Medicine. 364:1503-1512
A b s t r ac t Background The mutations that have been implicated in pulmonary fibrosis account for only a small proportion of the population risk. Methods Using a genomewide linkage scan, we detected linkage between idiopathic interstitial pneumonia
Autor:
Marc K. Drezner, Peggy A. Becker, Marcy C. Speer, Pamela R. Fain, Michael J. Econs, Arlene Taylor, Michael Norman, Margaret A. Pericak-Vance, David F. Barker
Publikováno v:
Journal of Bone and Mineral Research. 8:1149-1152
X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. The defect in tubular phosphate reabsorption is probably secondary to an unident
Autor:
Arthur S. Aylsworth, Kristen L. Deak, Marcy C. Speer, Stephen G. Kahler, B. Chesnut, Dietrich A. Stephan, Demetra S. Stamm, Jeffrey M. Stajich, John R. Gilbert, Cynthia M. Powell, Victoria Zismann
Publikováno v:
Neurology. 71:1764-1769
Background: Native American myopathy (NAM) is an autosomal recessive congenital myopathy first reported in the Lumbee Indian people. Features of NAM include congenital weakness, cleft palate, ptosis, short stature, and susceptibility to malignant hyp
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:
Patrick Wincker, Pu-Ting Xu, Sophie Thomas, Michel Vekemans, Marie K Thomas, Arnold Munnich, Marcy C. Speer, Candice Babarit, Heather C. Etchevers, Stanislas Lyonnet
Publikováno v:
Human Molecular Genetics
The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells (hNCC) develop toward the end of the first month of
Autor:
Douglas R. McQuoid, Marcy C. Speer, K. Ranga Rama Krishnan, Warren D. Taylor, David C. Steffens, Stephan Züchner
Publikováno v:
The American Journal of Geriatric Psychiatry. 15:850-857
Objective The Val66Met polymorphism of the brain-derived neurotrophic factor gene is associated with cognitive and neuroimaging changes. The authors examined the relationship between this polymorphism and depression in an elderly sample, hypothesizin
Publikováno v:
Genetics in Medicine. 9:332-340
Genetic factors play a fundamental role in the genesis of many mental disorders. The identification of the underlying genetic variation will therefore transform parts of psychiatry toward a neuroscience-based discipline. With the sequence of the huma