Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Neeta L Vora"'
Autor:
Daniel S Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V Milko, Alicia Brandt, Alexandra Arreola, Christian R Tilley, Chris Bizon, Neeta L Vora, Kirk C Wilhelmsen, James P Evans, Jonathan S Berg
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0209185 (2018)
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of th
Externí odkaz:
https://doaj.org/article/84f150eb820246d5b55e9115ad85abd3
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88661 (2014)
One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorly understood. We performed a global gene expression analysis of
Externí odkaz:
https://doaj.org/article/28f7118de256496da4f3cafa2f8dfaf0
Autor:
Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, John Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M. Tidball
Publikováno v:
Cells, Vol 12, Iss 13, p 1697 (2023)
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe life
Externí odkaz:
https://doaj.org/article/6b660141cc184f70883f2ddb8aabac0e
Autor:
Asha N. Talati, Kelly L. Gilmore, Emily E. Hardisty, Anne D. Lyerly, Christine Rini, Neeta L. Vora
Publikováno v:
Prenat Diagn
PURPOSE: To describe psychological outcomes among people with recurrent anomalous pregnancies pursuing trio-exome sequencing (exome sequencing (ES)) compared to those with one affected. METHODS: We analyzed data from a prospective ES cohort, enrollin
Autor:
Naomi O. Riches, Erin P. Johnson, Akila Subramaniam, Neeta L. Vora, Emily Hardisty, Kate LaRiviere, Erin Rothwell
Publikováno v:
Prenatal Diagnosis. 43:605-612
Rapid advances in prenatal genetic screening technology make it difficult for providers to deliver adequate prenatal counseling. The aim of this study was to understand how prenatal screening educational approaches can meet the needs of patients.Qual
Autor:
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
Publikováno v:
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl
Autor:
Tidball, Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, John Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M.
Publikováno v:
Cells; Volume 12; Issue 13; Pages: 1697
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe life
Autor:
Lisa Hui, Katie Ellis, Dora Mayen, Mark D. Pertile, Rebecca Reimers, Luming Sun, Joris Vermeesch, Neeta L. Vora, Lyn S. Chitty
Publikováno v:
Prenatal Diagnosis.
Autor:
Asha N. Talati, Kelly L. Gilmore, Emily E. Hardisty, Anne D. Lyerly, Christine Rini, Neeta L. Vora
Publikováno v:
Prenat Diagn
PURPOSE: To understand motivations for and parental interpretation of results from trio-exome sequencing (ES) for fetal anomalies with a negative standard genetic diagnosis. METHODS: Analysis of an ongoing, prospective prenatal trio-ES study of pregn
Autor:
Yukako Kayashima, W. H. Davin Townley-Tilson, Neeta L. Vora, Kim Boggess, Jonathon W. Homeister, Nobuyo Maeda-Smithies, Feng Li
Publikováno v:
International Journal of Molecular Sciences
Volume 24
Issue 3
Pages: 2149
Volume 24
Issue 3
Pages: 2149
Obesity is a risk factor for preeclampsia. We investigated how obesity influences preeclampsia in mice lacking ankyrin-repeat-and-SOCS-box-containing-protein 4 (ASB4), which promotes trophoblast differentiation via degrading the inhibitor of DNA-bind