Zobrazeno 1 - 10
of 21 264
pro vyhledávání: '"030105 genetics '
Publikováno v:
BMJ Case Rep
Klippel-Feil syndrome (KFS) is a rare congenital anomaly in forming the cervical vertebrae resulting in the fusion of two or more of the vertebrae. KFS is associated with many congenital anomalies, some of which are common and well known. Here, we re
Autor:
Helen Dimaras, Jessica A. Hill, Benedict Darren, Li Qun Betty He, Adrina Zhong, Trillium Chang, Bethina Loiseau
Publikováno v:
Genetics in Medicine. 23:2270-2280
We performed a systematic review of the ethical, social, and cultural issues associated with delivery of genetic services in low- and middle-income countries (LMICs). We searched 11 databases for studies addressing ethical, social, and/or cultural is
Autor:
Jessica C. Lai
In October 2015, the High Court of Australia (HCA) handed down D’Arcy v. Myriad Genetics and overturned the Full Court of the Federal Court of Australia by holding that key product claims from Myriad Genetics’ BRCA1 gene patent did not constitute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea23551f258905ac6eb420d04c64697f
Autor:
Arupa Ganguly, Matthew J. Ferber, Madhuri R Hegde, Patti Krautscheid, Rondell P. Graham, Suma P. Shankar, Rong Mao
Publikováno v:
Genetics in Medicine. 23:1807-1817
Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all cases of CRC are believed to have a familial component and up to one-third of these (10%) are hereditary. Pathogenic germline variants in multiple genes have been a
Publikováno v:
Genetics in Medicine. 23:1746-1752
Cell-free fetal DNA (cfDNA) analyzes maternal and fetoplacental DNA, generating highly personal genetic information for both mother and fetus. This study aimed to determine how laboratories retain, use, and share genetic information from cfDNA. Other
Autor:
Emil M. deGoma, Daniel J. Rader, Ezimamaka Ajufo, Anna Raper, Marina Cuchel, Kristen Dilzell Yu
Publikováno v:
Genetics in Medicine. 23:1697-1704
Family-based cascade screening from index probands is considered an effective way of identifying undiagnosed individuals with familial hypercholesterolemia (FH). The role of genetic testing of the proband in the success of cascade screening for FH is
Autor:
Mildred K. Cho, Julie Mak, Talia Stanley, Holly K. Tabor, Jennifer L. Young, Michelle B. Bass
Publikováno v:
Genetics in Medicine. 23:1424-1437
Asian Americans have been understudied in the literature on genetic and genomic services. The current study systematically identified, evaluated, and summarized findings from relevant qualitative and quantitative studies on genetic health care for As
Autor:
Bryce A Seifert, David T. Miller, Lina Shao, Daynna J. Wolff, Fady M. Mikhail, Yassmine Akkari, Linda D. Cooley
Publikováno v:
Genetics in Medicine. 23:1818-1829
Chromosomal microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism array, are widely applied in the diagnostic evaluation for both constitutional and neoplastic disorders. In a constitutional set
Autor:
Aroor Shrikiran, Dhanya Lakshmi Narayanan, Purvi Majethia, Y. Ramesh Bhat, Lakshmi Priya Rao, Anju Shukla, Michelle C. do Rosario, Shruti Pande, Stephanie L. Bielas, Narayanaswamy Suresh, Puneeth H. Somashekar, Suvasini Sharma, Sheela Nampoothiri, Katta M. Girisha, Divya Udyawar, Parneet Kaur, Neethukrishna Kausthubham
Publikováno v:
European Journal of Human Genetics
Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests fo
Autor:
Katherine M. Tucker, Maira Kentwell, Katy J.L. Bell, Y. Antill, Bettina Meiser, Paula Woodward, Frances M. Boyle, Megan Best, Phyllis Butow, Natalie Taylor, Helen Mar Fan, Margaret Gleeson
Publikováno v:
Familial Cancer
The increasing use of genetic testing for BRCA1/2 and other pathogenic variants in the management of women with breast and ovarian cancer necessitates increased genetic literacy in oncology healthcare professionals. This pilot study aimed to evaluate