Results 71 to 80 of about 38,783 (308)

Pitfalls of prenatal diagnosis associated with mosaicism

, 2022
Key content- Fetal placental mosaicism, of which confined placental mosaicism is a subtype, occurs in 2–3% of pregnancies.- Confined placental mosaicism may lead to a false positive result on non-invasive prenatal testing (NIPT) for common aneuploidies.-
Kelly Reilly, Samantha Doyle, Kilby, Mark D, Fionnuala Mone, Mark D Kilby, Reilly, Kelly, Hamilton, Susan J, Susan J Hamilton, Doyle, Samantha, Mone, Fionnuala; id_orcid   +9 more
core   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Unproportional mosaicing

CoRR, 2023
Data shift is a gap between data distribution used for training and data distribution encountered in the real-world. Data augmentations help narrow the gap by generating new data samples, increasing data variability, and data space coverage. We present a new data augmentation: Unproportional mosaicing (Unprop). Our augmentation randomly splits an image
Vojtech Molek, Petr Hurtík, Pavel Vlasánek, David Adamczyk   +3 more
openaire   +2 more sources

Chromosomal mosaicism goes global

, 2008
Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy).
Iourov Ivan Y, Yurov Yuri B, Vorsanova Svetlana G   +2 more
core   +1 more source

Mosaicism in preimplantation human embryos

, 2020
Since the very first publications on preimplantation genetic testing, researchers have faced a serious problem — a high mosaicism level in the preimplantation human embryos obtained by means of in vitro fertilization cycles.
Nevskaia, Elizaveta E., Saifitdinova, Alsu F., Scherbak, Sergei G., Baranov, Vladislav S., Glotov, Oleg S., Urazov, Stanislav P., Kuznetzova, Tatyana V., Loginova, Julia A., Poliakova, Irina V., Sarana, Andrei M., Shikov, Anton E., Bichevaya, Natalia K., Leonteva, Olga A., Pavlova, Olga A., Puppo, Irina L., Kuznetsova, Rena A.   +15 more
core   +1 more source

Postzygotic mosaicism in basal cell naevus syndrome [PDF]

, 2017
Basal cell naevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the Drosophila homologue of patched-1 gene (PTCH1). Here we describe a patient with clinical signs of BCNS, caused by postzygotic mosaicism
Paulussen, A. D. C., Roemen, G. M. J. M., Mosterd, K., Arits, A. H. M. M., Boersma, H. J., Steijlen, P. M., Speel, E. J. M., van Geel, M., Reinders, M. G. H. C., Vreeburg, M., Leter, E. M.   +10 more
core   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Low‐Angle Grain Boundaries and Re‐Segregation in Single‐Crystalline Ni‐Base Superalloys

Advanced Engineering Materials, EarlyView.
This work demonstrates that Re‐segregation at low‐angle grain boundaries (LAGBs) in Ni‐base superalloys is influenced by misorientation angle. Advanced microscopy and atom probe tomography reveal that higher misorientation angles increases Re‐segregation.
Alireza B. Parsa, Aparna Saksena, Alesander Kostka, Pascal Thome, Felicitas Scholz, Alexandre Mussi, Christoph Somsen, Baptiste Gault, Jan Frenzel, Gunther Eggeler   +9 more
wiley   +1 more source

Mosaic distal 13q duplication due to mosaic unbalanced translocation of 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +9 more
doaj   +1 more source

Encyclopedia of 2D β′‐In2Se3 Growth Using Chemical Vapor Deposition: The Effects of Synthesis Parameters Onto Material Quality

Advanced Engineering Materials, EarlyView.
A distinct semi‐confined inner‐tube chemical vapor deposition geometry enables reproducible, large‐area growth of phase‐pure 2D β′‐In2Se3 from InI + Se precursors. Engineering local vapor transport and optimizing precursor delivery and temperature–time conditions yield uniform continuous films.
Dasun P. W. Guruge, P. Sanju S. Panawala, Joseph F. S. Fernando, Zhenhuan Chen, Chao Zhang, Dong‐Chen Qi, Liangzhi Kou, Konstantin L. Firestein, Dmitri V. Golberg   +8 more
wiley   +1 more source