Results 11 to 20 of about 2,249,426 (311)

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

Perception of Premarital Screening and Genetic Counseling among Future Couples [PDF]

Egyptian Journal of Health Care, 2022
Background: Premarital screening and genetic counseling are important plans and strategies for preventing genetic disorders and congenital anomalies.
A. KH. Khalil, I. K. Ali, D. KH. Eshra, E. M. Hamed   +3 more
doaj   +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

Knowledge and Attitudes among Tanta University Students Regarding to Genetic Disorders and Genetic Counseling [PDF]

Tanta Scientific Nursing Journal, 2021
 Background:  Advancements in genomic sciences turned the focus of health care from the diagnosis and treatment of genetic diseases to genetic risk identification, genetic counseling and protective actions.
Entesar El-Hosany, Samia Khaton
doaj   +1 more source

Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum

Case Reports in Perinatal Medicine, 2022
Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum.
Gong Ping, Pelletier Myriam, Silverman Neil, Kuhlman Kathleen, Wallerstein Robert   +4 more
doaj   +1 more source

Preparing the genetic counseling workforce for the future in Australasia [PDF]

, 2020
Current genetic counseling students will graduate into a workforce involving more opportunities, diversity, and uncertainty than any previous generation.
Alison McEwen, McEwen, A, Chris Jacobs, Jacobs, C   +3 more
core   +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

'Do language and culture really matter?’: A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong

, 2021
In this paper, we present evidence that in counseling culturally diverse patients, differences in spoken language and cultural beliefs of the patients and genetic counseling professionals do not necessarily impede successful counseling. We also highlight
Fung, JLF, Zayts-Spence, OA, Chung, BHY
core   +1 more source

An investigation of preceptors' perceptions of behavioral elements of “professionalism” among genetic counseling students

, 2023
Professionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic ...
Bowling, Isabella, Paula Delk, Wesson, Melissa, Courtney Schroeder, Wilson, Theodore E., Wetherill, Leah, Isabella Bowling, Melissa Wesson, Theodore E. Wilson, Leah Wetherill, Delk, Paula, Schroeder, Courtney   +11 more
core   +1 more source