Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Tanya N. Eble"'
Publikováno v:
Journal of Genetic Counseling. 30:370-382
The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed5940bfaba05e0bd5cde5695eb4a0b
https://doi.org/10.1002/jgc4.1320
https://doi.org/10.1002/jgc4.1320
Publikováno v:
Clinical Case Reports
Key Clinical Message Even in well‐described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0fec4050ec97a0a8ca55c4adcacbf3
http://europepmc.org/articles/PMC6333055
http://europepmc.org/articles/PMC6333055
Publikováno v:
Personalized medicine. 18(1)
Background: Health educators (HEs), who are specialized in health education, can provide basic genomics education/services to the public. Such practice of HEs is unknown. We examined HEs’ genomics knowledge and practice, intention, attitudes, self-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::315ebc431917fd804814e8cb795d6c29
https://pubmed.ncbi.nlm.nih.gov/33332182
https://pubmed.ncbi.nlm.nih.gov/33332182
Autor:
Katharine M. Nimmons, Lei-Shih Chen, Denise Martinez, Shweta U. Dhar, Tanya N. Eble, Shixi Zhao, Yulyu Yeh, Donaji Stelzig, Wei-Ju Chen
Publikováno v:
American journal of preventive medicine. 60(3)
Cancer is the second leading cause of death in the U.S. Utilizing family health history in cancer prevention holds promise in lessening the burden of cancer. Nevertheless, family health history is underutilized in public health and preventive medicin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e92f21d827ed3bcf5cbee33accfbd9e
https://pubmed.ncbi.nlm.nih.gov/33358550
https://pubmed.ncbi.nlm.nih.gov/33358550
As advances are made in genetics, more patients are seeking genetic services and genetic testing. Adult patients may be symptomatic with the onset of symptoms in childhood or adulthood or may be asymptomatic and seen for a positive family history. Fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::247af150f7ccc5ccd4551e5c04bfe64b
https://doi.org/10.1016/b978-0-12-817344-2.00004-6
https://doi.org/10.1016/b978-0-12-817344-2.00004-6
Autor:
Ruth K. Abramson, Jeffrey Addison, Adnan Alsadah, Ashok Balasubramanyam, Mir Reza Bekheirnia, Nasim Bekheirnia, John Christopher Berens, Katie Lee Bergstrom, Thomas D. Bird, Maria Blazo, Nicola Brunetti-Pierri, Lindsay Burrage, Sandra Darilek, Shweta U. Dhar, Harry C. Dietz, Tanya N. Eble, Edward D. Esplin, David Flannery, J. Scott Gabrielsen, Jaya Ganesh, Aixa Gonzalez Garcia, Monica Giovanni, Kevin E. Glinton, Christi J. Guerrini, Trevor D. Hadley, Jessica Hause, Lauren E. Hipp, Fuki M. Hisama, Sarah Huguenard, Krystal M. Jones, Dolores J. Lamb, Gabriel Lazaro-Munoz, Brendan Lee, Moise L. Levy, Gretchen MacCarrick, Ronit Marom, Amy L. McGuire, Luisa Mestroni, Avni Mody, David R. Murdock, Michael F. Murray, Sandesh C.S. Nagamani, Cynthia Peacock, Jennifer E. Posey, Huma Rana, Jill A. Rosenfeld, Susan L. Samson, Fernando Scaglia, Aeron M. Small, Matthew R.G. Taylor, Megan E. Tucker, Wendy R. Uhlmann, Ignatia B. Van den Veyver, Jaime Vengoechea, Jennifer Weiss, Dina Winograd, Wojciech Wiszniewski, Sarvari Yellapragada, Anna Zakas, Lilei Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffc6e3ac620bcc39030b205dbdb0e88d
https://doi.org/10.1016/b978-0-12-817344-2.00034-4
https://doi.org/10.1016/b978-0-12-817344-2.00034-4
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586883b712c52e3cdc325fee41782666
https://doi.org/10.1056/nejmc1812033
https://doi.org/10.1056/nejmc1812033
Publikováno v:
Molecular Genetics and Metabolism. 132:S208-S209
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d4a1ff7eefe1705c327e05508eee35e
https://doi.org/10.1016/s1096-7192(21)00409-1
https://doi.org/10.1016/s1096-7192(21)00409-1
Publikováno v:
Journal of autism and developmental disorders. 49(12)
This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f9bb764d5f44362284860f0125ed40
https://pubmed.ncbi.nlm.nih.gov/31542846
https://pubmed.ncbi.nlm.nih.gov/31542846
Publikováno v:
Journal of genetic counselingREFERENCES. 29(4)
A genetic evaluation may lead to a clinical or molecular diagnosis, which helps clarify prognosis, tailor surveillance protocols based on risks associated with the genetic condition, and aid in assessment of risk to family members. However, individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47791f4ef1ab4b29154e08f0b9f8d85
https://pubmed.ncbi.nlm.nih.gov/32275337
https://pubmed.ncbi.nlm.nih.gov/32275337