Results 51 to 60 of about 655,699 (284)

Early life factors and risk of childhood rhabdomyosarcoma. [PDF]

, 2013
Although little is known about etiology of childhood rhabdomyosarcoma (RMS), early life factors are suspected in the etiology. We explored this hypothesis using linked data from the California Cancer Registry and the California birth rolls.
Anshu eShrestha, Anshu eShrestha, Beate eRitz, Christina A Lombardi, Julia eHeck, Michelle eWilhelm, Simona eOgnjanovic   +6 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Genome Medicine, 2022
Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES
Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li, Fatao Li, Lina Zhang, Cuixing Yi, Yingsi Li, Yan Lu, Hang Zhou, Ken Cheng, Jian Li, Lina Xiang, Jing Zhang, Sha Tang, Ping Fang, Dongzhi Li, Can Liao   +29 more
doaj   +1 more source

Prenatal Nicotine Exposure as a Teratogen in Neurological Pathways [PDF]

, 2016
Attention-deficit/hyperactivity disorder (ADHD) is the most heritable and commonly diagnosed childhood psychiatric disorder with 4% of all children being diagnosed with this disorder.
Grover, Monica
core   +1 more source

Photo‐Rewritable Ambipolar Organic Electrochemical Synapses with Bidirectional Optical Plasticity for Adaptive Vision in Aqueous Environments

Advanced Materials, EarlyView.
Photo‐rewritable ambipolar organic synapses operating in aqueous environments at low voltage (≤0.4 V) demonstrate bidirectional optical plasticity through photon‐modulated electrochemical doping. The bulk heterojunction device enables both excitatory and inhibitory responses with extended retention time (>130 min).
Xiaoqian Su, Xihu Wu, He Wang, Wenzhe Lu, Bing Xue, Jinli Tang, Zhangshanhao Li, Kejing Ren, Qiang He, Junyu Li, Lan Yin, Yuxin Liu, Shiming Zhang, Ting Lei, Changsheng Wu   +14 more
wiley   +1 more source

Prenatal Detection of Congenital Hemangiopericytoma: Case Report and Systematic Review

Case Reports in Obstetrics and Gynecology
Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor of perivascular differentiation, characterized by prominent vascularity and heterogeneous clinical behavior in neonates.
Antonia Lettieri, Giuliana Orlandi, Olimpia Gabrielli, Luigi Manzo, Laura Letizia Mazzarelli, Giordana Sica, Letizia Di Meglio, Lavinia Di Meglio, Ferdinando Antonio Gulino, Carla Ettore, Giosuè Giordano Incognito, Attilio Tuscano, Maurizio Guida, Giuseppe Ettore, Aniello Di Meglio   +14 more
doaj   +1 more source

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

Molecular Cytogenetics, 2020
Background Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited ...
Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang, Xin Wang, Chenghong Yin   +6 more
doaj   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Study of a Novel Bi‐Layered Thermoplastic Polyurethane Patch for Congenital Diaphragmatic Hernia

Advanced Materials Interfaces, EarlyView.
Large congenital diaphragmatic hernia remains a challenge due to the poor compatibility of current prostheses. To tackle this problem, a bilayer thermoplastic polyurethane patch with tunable mechanical properties is engineered, whose fibrous side supports rapid fibroblast and myoblast colonization, while the smooth film limits adhesions.
Guillaume Leks, Julie Favre, Manon Zislin, Rodolphe Migneret, Jordana Hirtzel, Vincent Ball, Cendrine Seguin, Anne Hebraud, Emeline Lobry, Guy Schlatter, Nadia Bahlouli, Hamdi Jmal, Benoît Frisch, Sylvie Fournel, Isabelle Talon   +14 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source