Results 1 to 10 of about 9,876,006 (204)

Hysteroscopic findings in patients with secondary infertility [PDF]

Al-Azhar International Medical Journal, 2022
Background; decreased rates of gestation are detected in cases with uterine space irregularities. The correction of these irregularities was accompanying with better rates of gestation.
Basem Abdel Aziz, Mohammad Hassanin, Abd El-Nasser Hussein   +2 more
doaj   +1 more source

Opt‐in for secondary findings as part of diagnostic whole‐exome sequencing: Real‐life experience from an international diagnostic laboratory

Molecular Genetics & Genomic Medicine, 2023
Background Discussion about the risks and benefits of offering secondary findings as part of genome‐wide diagnostics lacks real‐life data. We studied the opt‐in decisions of patients/families referred to whole exome study (WES) in Blueprint Genetics (BpG)
Minna Brunfeldt, Milja Kaare, Inka Saarinen, Juha Koskenvuo, Helena Kääriäinen   +4 more
doaj   +1 more source

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Frontiers in Genetics, 2021
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow.
Vasily E. Ramensky, Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina   +21 more
doaj   +1 more source

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing

International Journal of Neonatal Screening, 2022
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis.
Calli O. Mitchell, Greysha Rivera-Cruz, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Anne B. S. Giersch, Cynthia C. Morton   +8 more
doaj   +1 more source

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Molecular Genetics & Genomic Medicine, 2023
Introduction The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large‐scale ...
Abimbola Oladayo, Lord Jephthah Joojo Gowans, Waheed Awotoye, Azeez Alade, Tamara Busch, Thirona Naicker, Mekonen A. Eshete, Wasiu L. Adeyemo, Jacqueline B. Hetmanski, Erliang Zeng, Olawale Adamson, Chinyere Adeleke, Mary Li, Veronica Sule, Sami Kayali, Joy Olotu, Peter A. Mossey, Solomon Obiri‐Yeboah, Carmen J. Buxo, Terri Beaty, Margaret Taub, Peter Donkor, Mary L. Marazita, Oluwakemi Odukoya, Adebowale A. Adeyemo, Jeffrey C. Murray, Anya Prince, Azeez Butali   +27 more
doaj   +1 more source

Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings

Frontiers in Genetics, 2022
The use of whole exome sequencing (WES) in medical research is increasing in South Africa (SA), raising important questions about whether and which individual genetic research results, particularly incidental findings, should be returned to patients ...
Nicole Van Der Merwe, Nicole Van Der Merwe, Raj Ramesar, Jantina De Vries, Jantina De Vries   +4 more
doaj   +1 more source

Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants

Frontiers in Genetics, 2022
Background: Next-generation sequencing-based genetic testing represents a great opportunity to identify hereditary predispositions to specific pathological conditions and to promptly implement health surveillance or therapeutic protocols in case of ...
Stefania Martone, Stefania Martone, Autilia Tommasina Buonagura, Autilia Tommasina Buonagura, Roberta Marra, Roberta Marra, Barbara Eleni Rosato, Barbara Eleni Rosato, Federica Del Giudice, Ferdinando Bonfiglio, Ferdinando Bonfiglio, Mario Capasso, Mario Capasso, Achille Iolascon, Achille Iolascon, Immacolata Andolfo, Immacolata Andolfo, Roberta Russo, Roberta Russo   +18 more
doaj   +1 more source

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas

Genetics in Medicine Open, 2023
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberately ...
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak   +12 more
doaj   +1 more source

Actionable Exomic Secondary Findings in 280 Lebanese Participants

Frontiers in Genetics, 2020
The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide
Nadine Jalkh, Cybel Mehawej, Eliane Chouery   +2 more
doaj   +1 more source

A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways

BMC Medical Ethics, 2021
Background Whether and how to disclose genomic findings obtained in the course of genomic clinical practice and medical research has been a controversial global bioethical issue over the past two decades.
Kenji Matsui, Keiichiro Yamamoto, Shimon Tashiro, Tomohide Ibuki   +3 more
doaj   +1 more source