Results 151 to 160 of about 98,141 (333)

Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
A retrospective study of 98 fetuses with congenital duodenal obstruction (CDO) revealed an overall genetic abnormality rate of 20.4%, with trisomy 21 being the predominant chromosomal anomaly. Comprehensive prenatal diagnostic testing is recommended for fetuses with suspected congenital duodenal obstruction, as the genetic findings exert substantial ...
Jianqin Lu, Fang Fu, Fei Guo, Hang Zhou, Ruibin Huang, Huanyi Chen, Chunling Ma, Liyuan Liu, Xiangyi Jing, Simin Yuan, Xiang Zhou, Qiuxia Yu, Manqiu Yang, Jin Han, Dongzhi Li, Ru Li, Can Liao   +16 more
wiley   +1 more source

The Progress, Pitfalls and Paediatric Perspectives of Donor‐Derived Cell‐Free DNA in Heart Transplants

Acta Paediatrica, EarlyView.
Graphical abstract adapted from Böhmer et al. doi: https://doi.org/10.3389/ti.2023.11260.
Jens Böhmer
wiley   +1 more source

Detection of Mitotic and Meiotic Aneuploidy in the Yeast Saccharomyces cerevisiae

, 1979
James M. Parry, D. Sharp, Elizabeth M. Parry   +2 more
openalex   +1 more source

Medical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini‐Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim Medical gases, including nitric oxide, carbon monoxide, hydrogen sulphide and molecular hydrogen, have emerged as key regulators of redox balance and cellular signalling. This mini‐review examines their relevance to paediatric endocrine and neurodevelopmental pathways, domains particularly sensitive to oxidative and inflammatory ...
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Author response: Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

, 2018
Simeon Springer, Chung‐Hsin Chen, Maria Del Carmen Rodriguez Peña, Lu Li, Christopher Douville, Yuxuan Wang, Joshua D. Cohen, Diana Taheri, Natalie Silliman, Joy Schaefer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Bahman Afsari, Aline C. Tregnago, Stephania Martins Bezerra, Christopher J. VandenBussche, Kazutoshi Fujita, Dilek Ertoy, Isabela W. Cunha, Lijia Yu, Trinity J. Bivalacqua, Arthur P. Grollman, Luis A. Díaz, Rachel Karchin, Ludmila Danilova, Chao‐Yuan Huang, Chia‐Tung Shun, Robert J. Turesky, Byeong Hwa Yun, Thomas A. Rosenquist, Yeong‐Shiau Pu, Ralph H. Hruban, Cristian Tomasetti, Nickolas Papadopoulos, Ken W Kinzler, Bert Vogelstein, Kathleen G. Dickman, George J. Netto   +39 more
openalex   +1 more source

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG‐TOP2 Study

Cancer Science, EarlyView.
In the JCCG‐TOP2 nationwide pediatric cancer genomic profiling study, 204 patients' tumors and peripheral blood from 50 institutions across Japan were successfully analyzed using a dual DNA/RNA panel. A total of 147 (72%) had potentially actionable findings, including diagnostic, prognostic, and therapeutic findings in 111 (54%), 61 (30%), and 64 (31%),
Kayoko Tao, Takako Yoshioka, Miho Kato, Kazuyuki Komatsu, Shinichi Tsujimoto, Kenichi Sakamoto, Kazuki Tanimura, Minako Sugiyama, Masahiro Sekiguchi, Yoshiko Nakano, Yoshihiro Otani, Yasushi Yatabe, Akihiko Yoshida, Hajime Okita, Junko Hirato, Kenichi Kohashi, Yukichi Tanaka, Shinji Kohsaka, Takashi Kubo, Kuniko Sunami, Makoto Hirata, Shuichi Tsutsumi, Hiroyuki Aburatani, Katsuyoshi Koh, Masahiro Hirayama, Shuhei Karakawa, Yukayo Terashita, Hiroyuki Fujisaki, Takeshi Yagi, Akihiro Yoneda, Shinji Mochizuki, Hiroyuki Shichino, Tatsuya Suzuki, Tetsuya Takimoto, Koichi Ichimura, Chitose Ogawa, Kimikazu Matsumoto, Hitoshi Ichikawa, Motohiro Kato   +38 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Prenatal aneuploidy screening in a low-risk Hispanic population: price elasticity and cost-effectivenessAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: In October 2015, the Massachusetts Medicaid program temporarily stopped reimbursement for procedures in which the International Classification of Diseases, Tenth Edition, code for serum aneuploidy screening used by certain communities was ...
Caitlin M. Clifford, MD, Neil Askew, MS, Diane Smith, MD, Jesus Iniguez, MD, Andrew Smith, MD, Michael D. House, MD, Ashley A. Leech, PhD, MS   +6 more
doaj   +1 more source

Supplementary Table 1 from Loss of the Methyl-CpG–Binding Protein ZBTB4 Alters Mitotic Checkpoint, Increases Aneuploidy, and Promotes Tumorigenesis

, 2023
Audrey Roussel-Gervais, Ikrame Naciri, Olivier Kirsh, Laetitia Kasprzyk, Guillaume Velasco, Giacomo Grillo, Pierre Dubus, Pierre‐Antoine Defossez   +7 more
openalex   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source