Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Nicole Schreiber-Agus"'
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz:
https://doaj.org/article/6d3ee0c27468471986227a368547920f
Autor:
Ari Melnick, Egor Prokhortchouk, John M. Greally, Nicole Schreiber-Agus, Peter W. Laird, Gabriela Chiosis, Fan-Guo Meng, Alexander Mazur, Maria E. Figueroa, Ester Valls, Eloisi C. Lopes
Aberrant CpG methylation of tumor suppressor gene regulatory elements is associated with transcriptional silencing and contributes to malignant transformation of different tissues. It is presumed that methylated DNA sequences recruit repressor machin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80615a3c4e0e2cf0515a015cb670296d
https://doi.org/10.1158/0008-5472.c.6497292
https://doi.org/10.1158/0008-5472.c.6497292
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
The cover image is based on the Original Article Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al., https://doi.org/10.1002/mgg3.1053. [Image: see te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283b3feb4366124461802cc7aae1119
https://europepmc.org/articles/PMC7005609/
https://europepmc.org/articles/PMC7005609/
Autor:
Geetu Mendiratta‐Vij, Xiaoqiang Cai, Lisong Shi, Mitchell W Dillon, Guiqing Cai, Andrew S McLellan, Ashley H. Birch, Funda E. Suer, Anastasia M. Larmore, Lisa Edelmann, Gidon Akler, Eric E. Schadt, Bryn D. Webb, Nicole Schreiber‐Agus, Chunli Yu, Jun Zhu, Lama Elkhoury, Ruth Kornreich
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wide targete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a1b70179958dfb7e378d4953cafdb7
http://europepmc.org/articles/PMC7005669
http://europepmc.org/articles/PMC7005669
Autor:
Chana Wiesman, Allison Grant, Nicole Schreiber-Agus, Esther D. Rose, Susan Klugman, Adam Zimilover
Publikováno v:
Genetics in Medicine. 19:529-536
Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dbd43c558c7f4ca24475736b0a8dfd8
https://doi.org/10.1038/gim.2016.154
https://doi.org/10.1038/gim.2016.154
Publikováno v:
Journal of Genetic Counseling. 25:18-24
The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfda4227d8470fd2a5eb764d2e96076
https://doi.org/10.1007/s10897-015-9880-2
https://doi.org/10.1007/s10897-015-9880-2
Autor:
Jessica J. Park, Ruth A. Heim, Nicole Schreiber-Agus, Steven Keiles, Alice K. Tanner, Jodi D. Hoffman, Ruth Kornreich, Kenneth J. Friedman
Publikováno v:
Prenatal Diagnosis. 34:1161-1167
Objective Although prenatal/preconception carrier screening recommendations for individuals of Ashkenazi Jewish descent (AJ) were published by American College of Medical Genetics and Genomics (2008) and American College of Obstetrics and Gynecology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1347d949dd596edae9cfb870b5b684e4
https://doi.org/10.1002/pd.4446
https://doi.org/10.1002/pd.4446
Autor:
David Eidelberg, Kaili Stanley, Shichun Peng, Sb B. Bressman, Karen Marder, Anat Mirelman, Sj J. Gross, Deborah Raymond, Rachel Saunders-Pullman, Andres Deik, Johann Hagenah, Nicole Schreiber-Agus, Lj J. Ozelius, Mj J. Barrett, Vijay Dhawan
Publikováno v:
Parkinsonism & Related Disorders. 19:186-191
Heterozygous glucocerebrosidase (GBA) mutations are the leading genetic risk factor for Parkinson disease, yet imaging correlates, particularly transcranial sonography, have not been extensively described.To determine whether GBA mutation heterozygot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f8c4ac967e30cffd663909743c819d5
https://doi.org/10.1016/j.parkreldis.2012.09.007
https://doi.org/10.1016/j.parkreldis.2012.09.007
Autor:
Chana, Wiesman, Esther, Rose, Allison, Grant, Adam, Zimilover, Susan, Klugman, Nicole, Schreiber-Agus
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(5)
The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6b483d3782dd0362f0fd397b57d8005
https://pubmed.ncbi.nlm.nih.gov/27735926
https://pubmed.ncbi.nlm.nih.gov/27735926
Autor:
Anne Marie Roe, Susan Klugman, Brian Wagner, Komal Bajaj, David Garry, Susan J. Gross, Stephen Apfelroth, Jenny Zhan, Nicole Schreiber-Agus, Barry M. Karpel
Publikováno v:
Prenatal Diagnosis. 31:259-266
Objectives To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb59de6ab065570b2dbe509dcb73527c
https://doi.org/10.1002/pd.2674
https://doi.org/10.1002/pd.2674