Zobrazeno 1 - 10
of 646
pro vyhledávání: '"I Nesbitt"'
Publikováno v:
The Journal of urology [J Urol] 2012 Nov; Vol. 188 (5), pp. 2017-8. Date of Electronic Publication: 2012 Sep 20.
Publikováno v:
The Journal of urology [J Urol] 2012 Jun; Vol. 187 (6), pp. 2278; author reply 2279. Date of Electronic Publication: 2012 Apr 14.
Autor:
Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
Publikováno v:
The Journal of Molecular Diagnostics. 24:274-286
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d49583b2fd1c4436346a76a80fce3d8
https://doi.org/10.1016/j.jmoldx.2021.12.002
https://doi.org/10.1016/j.jmoldx.2021.12.002
Autor:
Lauren Lulis, Jennifer L. Cohen, Jennifer Tarpinian, Sarah Mazzola, Emma Bedoukian, Katheryn Grand, Cara M. Skraban, Beth Denenberg, Matthew A. Deardorff, Leah Dowsett, Elaine H. Zackai, Addie I. Nesbitt, Avni Santani
Publikováno v:
American Journal of Medical Genetics Part A. 185:2766-2775
Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b628e930f2d505c1fa7c5c50b047d459
https://doi.org/10.1002/ajmg.a.62387
https://doi.org/10.1002/ajmg.a.62387
Autor:
Jill R, Murrell, Addie May I, Nesbitt, Samuel W, Baker, Kieran B, Pechter, Jorune, Balciuniene, Xiaonan, Zhao, Elizabeth H, Denenberg, Elizabeth T, DeChene, Chao, Wu, Pushkala, Jayaraman, Kajia, Cao, Michael, Gonzalez, Marcella, Devoto, Alessandro, Testori, John D, Monos, Matthew C, Dulik, Laura K, Conlin, Minjie, Luo, Kristin, McDonald Gibson, Qiaoning, Guan, Mahdi, Sarmady, Elizabeth, Bhoj, Ingo, Helbig, Elaine H, Zackai, Emma C, Bedoukian, Alisha, Wilkens, Jennifer, Tarpinian, Kosuke, Izumi, Cara M, Skraban, Matthew A, Deardorff, Livija, Medne, Ian D, Krantz, Bryan L, Krock, Avni B, Santani
Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d01581239134e015d1fc0a4434842a48
http://hdl.handle.net/11573/1631215
http://hdl.handle.net/11573/1631215
Autor:
Benjamin A Samuels, E David Leonardo, Alex Dranovsky, Amanda Williams, Erik Wong, Addie May I Nesbitt, Richard D McCurdy, Rene Hen, Mark Alter
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85136 (2014)
Selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine are the most common form of medication treatment for major depression. However, approximately 50% of depressed patients fail to achieve an effective treatment response. Understanding
Externí odkaz:
https://doaj.org/article/ed0741f32b7c49a080389c2b41a13b9e
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e94224 (2014)
Genetic, pharmacological, and environmental interventions that alter total levels of histone acetylation in specific brain regions can modulate behaviors and treatment responses. Efforts have been made to identify specific genes that are affected by
Externí odkaz:
https://doaj.org/article/1648f2fcf6d549e597b4ec9406a4a4a4
Autor:
Xiang Wang, Kallyn Stumm, Addie I. Nesbitt, Christine H. Chung, Margaret Harr, Sallie McAdoo, Deborah Watson, Hakon Hakonarson, Fernanda Abani Mafra, Avni Santani, Marco L. Leung
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(1)
Carrier screening involves detection of carrier status for genes associated with recessive conditions. A negative carrier screening test result bears a nonzero residual risk (RR) for the individual to have an affected child. The RR depends on the pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0bcba81b168876defdbf8e1a3f3fe3
https://pubmed.ncbi.nlm.nih.gov/33349347
https://pubmed.ncbi.nlm.nih.gov/33349347
Autor:
Alisha Wilkens, Ian D. Krantz, Laura K. Conlin, Mahdi Sarmady, Nancy B. Spinner, Addie I. Nesbitt, Zhenming Yu, Elizabeth J. Bhoj, Eric D. Marsh, Dimitri S. Monos, Elizabeth Denenberg, Peter White, Chao Wu, Jeffrey W. Pennington, Xiangdong Zhou, Kajia Cao, Avni Santani, Matt Deardorff, Emma Bedoukian, Qiaoning Guan, Bo Zhang, Holly Dubbs, Elaine H. Zackai, Kristin McDonald Gibson, Elizabeth T. DeChene, Minjie Luo, Livija Medne
Publikováno v:
Genetics in Medicine. 20:329-336
PurposeThe objective of this study was to assess the ability of our laboratory's exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ccae8e52d2a2bcaf1e45392aaffa6e
https://doi.org/10.1038/gim.2017.153
https://doi.org/10.1038/gim.2017.153
Autor:
Holly Dubbs, Diana Johnson, Anna Fliedner, Jonas Straub, Anne Gregor, Enrico D.H. Konrad, Meredith Phillips, Alexander P.A. Stegmann, Christiane Zweier, Maaike Vreeburg, Avni Santani, Lacey Smith, Bryan L. Krock, Levinus A. Bok, Constance T. R. M. Stumpel, Annapurna Poduri, Ganka Douglas, Addie I. Nesbitt, Heinrich Sticht, Heather P. Crawford, Johanna Grüner, Xilma R. Ortiz-Gonzalez, Rebekah Jobling, Mohamad A. Mikati, Zöe Powis, Joost Nicolai, Megan T. Cho, Annick Toutain
Publikováno v:
American Journal of Human Genetics, 102(1), 44-57. Cell Press
Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8979770493ea42149f6442f44264a312
https://cris.maastrichtuniversity.nl/en/publications/1c1b0334-bb5f-4093-b689-210e83b7b3f6
https://cris.maastrichtuniversity.nl/en/publications/1c1b0334-bb5f-4093-b689-210e83b7b3f6