Results 61 to 70 of about 24,692 (232)

Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review

Oman Medical Journal
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes.
Ngoc Bich Trinh, Anh Dinh Bao Vuong, Phuc Nhon Nguyen   +2 more
doaj   +1 more source

Preventable Hazards from in Vitro Fertilization – A Case Series of CF Patients from Bulgaria

Balkan Journal of Medical Genetics, 2023
Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy.
Yaneva N, Baycheva M, Kostova P, Papochieva V, Mileva S, Miteva D, Savov A, Petrova G   +7 more
doaj   +1 more source

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics, 2021
Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI).
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen   +10 more
doaj   +1 more source

Customizing Conception: A Survey of Preimplantation Genetic Diagnosis and the Resulting Social, Ethical, and Legal Dilemmas [PDF]

, 2002
One in six American couples experience difficulties conceiving a child. With fertility rates at an all time low, the business of treating infertility is booming.
Roberts, Jason Christopher
core   +1 more source

Diagnostic prénatal et diagnostic pré-implantatoire : arbre décisionnel, nouvelles pratiques ? [PDF]

, 2005
Le diagnostic pré-implantatoire (DPI) a pour objectif l’étude des caractéristiques génétiques d’un embryon âgé de trois jours. Il offre ainsi à des couples ayant un risque élevé de transmettre une maladie héréditaire une alternative au diagnostic ...
Feyereisen, Estelle, Frydman, Nelly, Kerbrat, Violaine, Romana, Serge, Steffann, Julie   +4 more
core   +1 more source

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

Allergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas, Inmaculada Martinez‐Saguer, Konrad Bork, Anastasios E. Germenis, Anete S. Grumach, Hanga Réka Horváth, Andrea Luczay, Andrea Zanichelli, Markus Magerl, Stephen Betschel, Emel Aygören‐Pürsün, Jonathan A. Bernstein, Isabelle Boccon‐Gibod, Teresa Caballero, Mauro Cancian, Sandra Christiansen, Danny M. Cohn, Francisco Contreras, Sansanee Craig, Camelia Isaic, Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, the Hereditary Angioedema Working Group (HAWK Group), Adil Adatia, Fiorella Adrianzen, Shimalee Andarawewa, Sladjana Andrejevic, Gabriel Emmanuel Arce‐Estrada, Ecem Ay, Adil Bahadir, Noemi Anna Bara, Marko Barešić, Krasimira Baynova, Shira Benor, Juliette Besson, Dharmagat Bhattarai, Patricia Bigas, Alexis Bocquet, Laurence Bouillet, Nicholas Brodszki, Thomas Buttgereit, Rosario Cabañas, Regis Campos, Asuman Çamyar, Orlane Chol, Stefan Cimbollek, Monica Colque Bayona, Cascia Day, Mats de Lange, Alex Fam, Davide Firinu, Tomas Freiberger, Johana Gil‐Serrano, Delphine Gobert, Dawn Goodyear, Maria del Mar Guilarte Clavero, Svetlana Hadvabova, David Hagin, Roman Hakl, George Harmat, Mensuda Hasanhodzic, Gocki Jacek, Joshua Jacobs, Rashmi Jain, Milos Jesenak, Amin Kanani, Daniela Kapustová, Boris Karanovic, Paul Keith, Tamar Kinaciyan, Pavlina Kralickova, Marcin Kurowski, Krzysztof Kuziemski, Rolando Laurel‐Laurel, Iris Leibovich‐Nassi, Gabriela Leon Zambrana, Ramon Lleonart, Lorena Lorenzo, Ferhat Maksudov, Ania Manson, Dusanka Markovic, Jayne McGucken, Nihal Mete Gokmen, Radovan Mijanovic, Vania Maria Miranda Saavedra, Irene Modestou, Sandra Nieto, Nora Nilsson, Patrik Nordenfelt, Francesca Perego, Angelica Petraroli, Elsa Phillips‐Angles, Alicia Prieto‐García, Michel Raguet, Marc Riedl, Matija Rijavec, Solange Rodrigues Valle, Yaryna Romanyshyn, Antoine Saut, Riccardo Senter, Branislav Šlenker, Marta Sobotkova, Peter J. Spaeth, Marcin Stobiecki, Linda Sundler Björkman, Mireille‐Maria Suttle, Agnes Szilágyi, Paola Triggianese, Kassiani Tzeli, Martina Vachová, Anna Valerieva, Solange Valle, Lilian Varga, Walter A. Wuillemin, Patrick Yong, Zhi Yuxiang, Liudmyla Zabrodska, Radana Zachova, Julia Zharankova   +128 more
wiley   +1 more source

False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3 [PDF]

, 2013
In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4.
Buendía Segura, Maria del Pilar, Mateu, Emilia, Mercader, Amparo, Milán-Sánchez, Miguel, Mir, Pere, Peinado Cervera, Vanessa, Pellicer Martínez, Antonio, Remohí Giménez, José, Rodrigo Vivó, Lorena, Rubio Lluesa, Carmen, Simón Vallés, Carlos   +10 more
core   +1 more source

Follow‐Up of Left‐Ventricular Assist Device Patients With Telemonitoring: A National Retrospective Multicentric Study on the Satelia LVAD Web Application

Artificial Organs, EarlyView.
We evaluated the usefulness of remote monitoring for advanced heart failure patients using left‐ventricular assist devices (LVADs) in France. A national, retrospective study on a web application (Satelia) at nine locations was conducted. Specialized remote monitoring could facilitate LVAD follow‐ups and improve outcomes.
Clément Delmas, Anne‐Sophie Simoni, Céline Goeminne, Aude Boignard, Anne‐Céline Martin, Fabrice Vanhuyse, Erwan Flecher, Catherine Nafeh‐Bizet, Romain Itier, Nicolas Pages, Sophie Nisse‐Durgeat, Pascal Battistella, Karine Nubret‐le‐Coniat   +12 more
wiley   +1 more source

Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle

Frontiers in Endocrinology
BackgroundMale sperm DNA fragmentation (SDF) may be associated with assisted reproductive technology (ART) outcomes, but the impact of SDF on the occurrence of aneuploid-related miscarriage remains controversial.MethodsGenome-wide single-nucleotide ...
Wanting Fu, Wanting Fu, Wanting Fu, Wanting Fu, Qiuying Cui, Qiuying Cui, Qiuying Cui, Qiuying Cui, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Zhiqin Bu, Hao Shi, Hao Shi, Hao Shi, Hao Shi, Qingling Yang, Qingling Yang, Qingling Yang, Qingling Yang, Linli Hu, Linli Hu, Linli Hu, Linli Hu   +23 more
doaj   +1 more source

L'incostituzionalità della diagnosi genética preimpianto [PDF]

, 2015
medically assisted procreation, preimplantation genetic diagnosis ...
Di Miele, Cinzia
core