Results 41 to 50 of about 22,286 (215)

Fabricated humans? Human genetics, ethics and the Christian wisdom tradition [PDF]

, 2005
This is a PDF version of an article published in Dialog© 2005. The definitive version is available at www.blackwell-synergy.com.This article discusses moral and ethical issues surrounding genetic screening and testing and argues that principles of ...
Deane-Drummond, Celia
core   +2 more sources

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Clinical Case Reports, 2021
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García   +6 more
doaj   +1 more source

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies.
Tsung-Ying Ou, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou   +4 more
doaj   +1 more source

Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]

, 2010
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban, A Kuliev, A Kuliev, A Mantzouratou, A Pujol, AL Barlow, C Gutierrez-Mateo, C Gutierrez-Mateo, C Staessen, C Tease, C Tease, C Tease, C Yuncken, CM Conn, CM Conn, D Wells, D Wells, E Bendsen, E Fragouli, E Fragouli, E Fragouli, E Fragouli, E Iwarsson, EY Cheng, F Pellestor, F Pellestor, G Sher, HE Hall, J Cohen, J Cozzi, JD Delhanty, JD Delhanty, JD Delhanty, JD Delhanty, KT Jones, L Gianaroli, L Gras, L Voullaire, L Voullaire, L Wilton, M Hultén, M Sandalinas, M Simopoulou, MA Hultén, ML Lenzi, NV Kovaleva, P Platteau, PA Almeida, PA Hunt, R Angell, R Mahmood, S Cupisti, S Evsikov, S Mastenbroek, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, T Anahory, T Hassold, TR Oliver, Y Verlinsky   +65 more
core   +1 more source

Pre-implantation Genetic Diagnosis of Thalassemias

Thai Journal of Obstetrics and Gynaecology, 2018
Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
doaj   +1 more source

Application of preimplantation genetic diagnosis in equine blastocysts [PDF]

SPERMOVA, 2016
Pre-implantation genetic diagnosis (PGD) is a procedure used to screen in vitroproduced embryos or embryos recovered after uterine flush to determine genetic traits by DNA testing prior to transfer into the uterus.
Grady ST, Hinrichs K
doaj   +1 more source

Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer [PDF]

, 2006
Review of the articleMitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development.
Alam, Almeida-Santos, Anderson, Ankel-Simons, Barritt, Bavister, Blok, Boulet, Brenner, Brison, Brown, Brown, Campbell, Chang, Chen, Chen, Chinnery, Chung, Cibelli, Cohen, Cortesini, Cui, Cummins, Cummins, Dailey, Danan, Davis, De Block, Dean, Dumollard, Dunbar, D’Aurelio, E.C. Spikings, Eichenlaub-Ritter, Eisen, El Shourbagy, Falkenberg, Fisher, Fisher, Fulka, Gahan, Giles, Graziewicz, Gyllensten, Hammer, Han, Hance, Hanna, Hauswirth, He, Hecht, Hiendleder, Hiendleder, Hiendleder, Holden, Houghton, Humpherys, Inoue, Irwin, J. Alderson, J.C.St. John, Jansen, Kaneda, Keefe, Kenyon, King, Kirches, Klopstock, Koehler, Kondo, Kondo, Kong, Kong, Kraytsberg, Kvist, Laflamme, Larsson, Larsson, Larsson, Larsson, Leese, Lertrit, Lestienne, Levy, Lin, Liu, Liu, Liu, Lloyd, Ludwig, Luetjens, Machaty, Magnusson, Mancuso, Marchington, Margineantu, May-Panloup, McConnell, McCreath, McKenzie, McKenzie, McKenzie, Meirelles, Meirelles, Meirelles, Meusel, Michaels, Monnat, Moyes, Munne, Munsie, Nagao, Naini, Nakamura, Naviaux, Nishi, Nishigaki, Nishimura, Normile, Ojala, Ono, Palermo, Pfeiffer, Piko, Piko, Ponzetto, Poulton, Reynier, Reynier, Rideout, Rubart, Ruiz-Pesini, Sathananthan, Sathananthan, Sato, Satoh, Sazer, Scarpulla, Schon, Schwartz, Seifer, Sherratt, Shitara, Shoubridge, Siciliano, Smith, Sokolova, Spelbrink, Spiropoulos, St. John, St. John, St. John, St. John, St. John, St. John, St. John, St. John, Steinborn, Steinborn, Steuerwald, Stojanovski, Stojkovic, Sturmey, Sun, Sun, Suomalainen, Sutovsky, Sutovsky, Takeda, Takeda, Takeda, Takeuchi, Takeuchi, Taylor, Tessa, Thompson, Tiranti, Trounce, Trounson, Tsaousis, Vajta, Van Blerkom, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Wallace, Wernig, White, White, Wiesner, Wilding, Wilmut, Xu, Yakes, Yang, Yang, Zhang, Zhao, Zouros   +200 more
core   +2 more sources

A Subset of Pro‐inflammatory CXCL10+ LILRB2+ Macrophages Derives From Recipient Monocytes and Drives Renal Allograft Rejection

Advanced Science, EarlyView.
This study uncovers a recipient‐derived monocyte‐to‐macrophage trajectory that drives inflammation during kidney transplant rejection. Using over 150 000 single‐cell profiles and more than 850 biopsies, the authors identify CXCL10+ macrophages as key predictors of graft loss.
Alexis Varin, Jovanne Palvair, Lennie Messager, Jamal Bamoulid, Jasper Callemeyn, Mélanie Chaintreuil, Ludivine Dal Zuffo, Didier Ducloux, Imane Farhat, Mathieu Legendre, Laurent Martin, Florian Renosi, Xavier Roussel, Thibaut Vaulet, Maarten Naesens, Claire Tinel, Baptiste Lamarthée   +16 more
wiley   +1 more source

A novel splicing mutation identified in a DMD patient: a case report

Frontiers in Pediatrics, 2023
BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting.
Yuting Wen, Luo Yang, Gan Shen, Siyu Dai, Jing Wang, Jing Wang, Xiang Wang, Xiang Wang   +7 more
doaj   +1 more source

L'incostituzionalità della diagnosi genética preimpianto [PDF]

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