Results 11 to 20 of about 3,120,324 (401)

Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas

Clinical and Translational Oncology, 2021
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively.
R. García-Carbonero, F. Matute Teresa, E. Mercader-Cidoncha, M. Mitjavila-Casanovas, M. Robledo, I. Tena, C. Alvarez-Escola, M. Arístegui, M. Bella-Cueto, C. Ferrer-Albiach, F. Hanzu   +10 more
semanticscholar   +1 more source

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions

Diagnostics, 2022
Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Jui-Hung Yen, Shao-Yin Chu, Yann-Jang Chen, Yi-Chieh Su, Chun-Ching Chien, Chun-Ying Weng, Pei-Yi Chen   +6 more
doaj   +1 more source

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, 2021
Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indication
Hannah E Ison, E. Griffin, Ashley Parrott, Amy R Shikany, L. Meyers, M. J. Thomas, Erin P Syverson, Erin M. Demo, Kristi K. Fitzgerald, Sara M. Fitzgerald-Butt, Katie Ziegler, Allison F Schartman, Kristyne M Stone, B. Helm   +13 more
semanticscholar   +1 more source

Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision

Journal of Genetic Counseling, 2021
There are no evidence‐based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineous ...
R. Bennett, N. R. Malleda, P. Byers, R. Steiner, Kimberly M Barr   +4 more
semanticscholar   +1 more source

Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience

Hereditary Cancer in Clinical Practice, 2023
Background In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020.
Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu   +9 more
doaj   +1 more source

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Journal of Genetic Counseling, 2022
Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality.
Lacey Smith, Jennifer Malinowski, S. Ceulemans, Katlin Peck, Nephi A. Walton, B. Sheidley, N. Lippa   +6 more
semanticscholar   +1 more source

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

Human Genome Variation, 2022
Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer.
Akimasa Tomida, Tomohiro Chiyonobu, Shinsaku Tokuda, Mitsuru Miyachi, Kyoko Murashima, Makoto Hirata, Masanori Nakagawa, Tomoko Iehara, Junya Kuroda, Koichi Takayama   +9 more
doaj   +1 more source

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Journal of Translational Medicine, 2020
Background In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management.
Carolina Velázquez, Enrique Lastra, Francisco Avila Cobos, Luis Abella, Virginia de la Cruz, Blanca Ascensión Hernando, Lara Hernández, Noemí Martínez, Mar Infante, Mercedes Durán   +9 more
doaj   +1 more source

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market [PDF]

, 2012
Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be ...
Harris, A., Kelly, S., Wyatt, S.
core   +3 more sources

Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan

Pediatrics and Neonatology, 2013
This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang, Pui-Yi Chen, Tzu-Ying Li, Chung-Nan Yeh, Yi-Shian Li, Shao-Yin Chu, Ming-Liang Lee   +6 more
doaj   +1 more source