Results 41 to 50 of about 22,399 (205)

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

Genetic Selective Abortion: Still a Matter of Choice [PDF]

, 2020
Jeremy Williams has argued that if we are committed to a liberal pro-choice stance with regard to selective abortion for disability, we will be unable to justify the prohibition of sex selective abortion. Here, I apply his reasoning to selective abortion
Blackshaw, Bruce P.
core   +2 more sources

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

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

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

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

Advanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan, Yelian Yan, Yalin Liang, Kanghua Zhong, Zhican Fu, Xiaobo Wang, Chao Liu, Tao Huang, Keliang Wu   +8 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Reprogenetics: preimplantational genetics diagnosis [PDF]

Genetics and Molecular Biology, 2014
Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo
openaire   +5 more sources