Detection of Down syndrome by in situ hybridization with chromosome 21 specific DNA probes [PDF]
Cremer, Thomas +4 more
core
Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló +3 more
wiley +1 more source
Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome. [PDF]
Valeva R +4 more
europepmc +1 more source
We used 4 sampling methods to estimate or index the abundance and sex ratio of spotted salamanders (Ambystoma maculatum) over 14 years. The present study highlights the importance of considering individual heterogeneity in capture probability when estimating abundance of pond‐breeding amphibians from capture data with imperfect detection. Abstract Long‐
Patrick D. Moldowan +3 more
wiley +1 more source
Persons with epilepsy have an elevated radiosensitivity, which may be mitigated by folic acid. [PDF]
Kleber M +8 more
europepmc +1 more source
Analysis of chromosomes in molecular tumor and radiation cytogenetics: Approaches, apllications, perspectives [PDF]
Cremer, Christoph, Cremer, Thomas
core
Residual and recurrent disease in advanced juvenile nasopharyngeal angiofibromas (JNAs) demonstrate spontaneous involution, reduction in size, or long‐term stability following initial treatment in 95% of patients. In this systematic review of 131 patients with advanced JNA, only 2% of patients demonstrated disease progression during surveillance, but ...
Shivani Angelique Kumar +2 more
wiley +1 more source
Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]
Dittrich T +6 more
europepmc +1 more source
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
Low-dose X-Ray induced genetic damage in human peripheral blood lymphocytes. [PDF]
Villalba-Rondón LC +5 more
europepmc +1 more source

