Results 1 to 10 of about 77,114 (209)

Genetic counseling development and milestone in Oman [PDF]

Genetics in Medicine Open
Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in ...
Khalsa Al-Kharusi, Chantel Van Wyk, Mariya Al Hinai, Amel Al-Fori, Zandre Bruwer   +4 more
doaj   +2 more sources

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges [PDF]

Human Genomics
Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to ...
Shruti Shenbagam, Alan Taylor, Ruchi Jain, Khalid Fakhro, Fowzan Alkuraya, Ahmad Abou Tayoun   +5 more
doaj   +2 more sources

Qatar’s genetic counseling landscape: Current insights and future prospects [PDF]

Genetics in Medicine Open
Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes,
Sumaya Abiib, Houssein Khodjet-El-khil, Karen El-Akouri, Reem Ibrahim Bux, Zoulikha Rezoug, Wafa Abualainin, Moza Alkowari, Sara Osman Musa, Mariam Al Mulla, Rehab Al Saleh, Noora Shahbeck, Maria Farag, Said I. Ismail, Reem Al Sulaiman, Tawfeg Ben-Omran, Asma Al-Thani, Mashael Al-Shafai   +16 more
doaj   +2 more sources

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

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

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

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

Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. [PDF]

PLoS ONE, 2014
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community.
Christina G S Palmer, Patrick Boudreault, Erin E Baldwin, Janet S Sinsheimer   +3 more
doaj   +1 more source

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

Patient Perception of Negative Noninvasive Prenatal Testing Results

American Journal of Perinatology Reports, 2016
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal ...
A. Theresa Wittman, S. Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N. Singletary   +5 more
doaj   +1 more source