Results 31 to 40 of about 4,187,133 (314)

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis

Scientific Reports, 2023
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang, Xiao Yang, Linlin Li, Xin Lv, Ruixue Wang, Hongguo Zhang, Ruizhi Liu   +6 more
doaj   +1 more source

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya), Makukh, H. (Halyna), Prokopchuk, N. (Natalia), Sharhorodska, Y. (Yevheniya)   +3 more
core   +3 more sources

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
doaj   +1 more source

Decision-making and ante-natal screening for sickle cell and thalassaemia disorders : To what extent do faith and religious identity mediate choice? [PDF]

, 2008
When making decisions about prenatal diagnosis, couples not only draw on their understanding of the condition but also broader aspects of their cultural identity.
Ahmed, Shenaz, Atkin, Karl, Green, Josephine M., Hewison, Jenny   +3 more
core   +1 more source

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu   +10 more
doaj   +1 more source

Sonographic evaluation of fetal scrotum, testes and epididymis [PDF]

Obstetrics & Gynecology Science, 2021
External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies.
Álvaro López Soto, Jose Luis Meseguer González, María Velasco Martínez, Rocío López Pérez, Inmaculada Martínez Rivero, Mónica Lorente Fernández, Olivia García Izquierdo, Juan Pedro Martínez Cendán   +7 more
doaj   +1 more source

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Genetics in Medicine, 2019
Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA).
Huilin Wang, Z. Dong, Rui Zhang, Matthew Hoi Kin Chau, Zhenjun Yang, K. Tsang, H. Wong, B. Gui, Z. Meng, Kelin Xiao, Xiaofan Zhu, Yanfang Wang, Shaoyun Chen, T. Leung, S. Cheung, Y. K. Kwok, C. Morton, Yuanfang Zhu, K. Choy   +18 more
semanticscholar   +1 more source

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source