Results 81 to 90 of about 1,654,437 (300)

Identification and validation of cell senescence genes in recurrent spontaneous abortion via multiple bioinformatics algorithms

Scientific Reports
Recurrent spontaneous abortion (RSA) represents a significant challenge in reproductive obstetrics, affecting approximately 5% of couples globally. Despite various treatments, the effectiveness of these interventions remains highly contentious.
Yiyun Wei, Zhuolin Zhou, Changqiang Wei, Jinlian Cheng, Shanshan Lin, Zhiwei Zhu, Lihong Pang   +6 more
doaj   +1 more source

Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

Frontiers in Pediatrics
BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very ...
Min Zhang, Zhaodong Lin, Meihuan Chen, Danhua Guo, Qiaomei Yang, Qianqian He, Bin Mao, Bin Liang, Lingji Chen, Meiying Cai, Hailong Huang, Liangpu Xu   +11 more
doaj   +1 more source

Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. [PDF]

, 2019
BACKGROUND:Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists.
Bastola, Kiran, Kim, Katherine K, McGrath, Scott P, Walton, Nephi, Williams, Marc S   +4 more
core  

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 more
wiley   +1 more source

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source

Molecular testing for the clinical diagnosis of fibrolamellar carcinoma. [PDF]

, 2018
Fibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression. Despite the distinct findings, accurate diagnosis of fibrolamellar carcinoma continues to be a challenge.
Alves, Venancio Af, Cruise, Michael W, Ferrell, Linda, Gill, Ryan M, Graham, Rondell P, Greipp, Patricia T, Jain, Dhanpat, Jin, Long, Kakar, Sanjay, Kerr, Sarah E, Lam-Himlin, Dora, Longerich, Thomas, Nart, Deniz, Roberts, Lewis R, Roessler, Stephanie, Rustin, Jeanette G, Salaria, Safia N, Schirmacher, Peter, Solomon, David A, Sukov, William R, Terracciano, Luigi, Torbenson, Michael S, Wang, Xiaoke, Waterhouse, Emily, Yeh, Matthew M, Yilmaz, Funda, Zaid, Nida, Zreik, Riyam T   +27 more
core   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

International Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q, Guo Y, Liang B, Chen M, Wu X, Lin N, Huang H, Xu L   +7 more
doaj