Case: A young woman of 25 years suffering from syncope with seizure was found by her partner in the early morning in bed. The ECG performed by the emergency doctor showed ventricular fibrillation. After repeated external defibrillation a preliminary conversion in sinus rhythm occurred, but shortly ...
A total of 17 patients had a karyotype 45, X and the rest are mosaics.doi:10.1186/1687-9856-2013-S1-P57I Nyoman Arie PurwanaDepartment of Pediatrics Endocrinology Cipto Mangunkusumo Hospital, Jakarta, IndonesiaI Made ArimbawaDepartment of Pediatrics Endocrinology Sanglah Hospital, Denpasar, ...
However, the detection of segments that are homozygous does increase the likelihood that the proband has inherited two copies of a deleterious allele for an autosomal recessive disorder. Clinicians may find utility in this knowledge if the patient’s phenotype matches that of an autosomal recessive ...
Removal of one APP allele reversed that FXS phenotype and reduced Aβ levels to normal30. Given trophic actions of APP and sAPPα, the mGluR5 response may act as a master switch that balances catabolic and anabolic processes in nervous system development33,34. In previous models33, ...
The slope factor, which captures a common average trend over time, did not explain variance in the phenotype. This finding also underlines the high level of idiosyncrasy of trajectories that lack a common longitudinal structure. The analyses of twin data showed that the random intercept factor of...
This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of patients at three collaborating clinical research centers: Boston Children's Hospital, Children's National Hospital, and the University of Washington. Methods:A combination of ...
Finding a Cytoskeletal Signature of Partial EMT Phenotype in Lung Cancerdoi:10.1097/01.cot.0000856100.32635.b8Chuck HoltOncology Times
The Rosetta Phenotype Harmonization Method Facilitates Finding a Relationship Quantitative Trait Locus for a Complex Cognitive Traitdoi:10.3390/genes14091748LOCUS (Genetics)BRAIN-derived neurotrophic factorREADING comprehensionSHORT-term memoryGenetics researchers increasingly combine data across many sourc...
Hamel, Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families, Eur. J. Hum. Genet. 19 (2011) 1256-1263.Hebrard M, Manes G, Bocquet B, Meunier I, Coustes-Chazalette D, Herald E, Senechal A, Bolland-...
Recognition of oral and dental findings might help to expand the phenotype and better characterize rare syndromes.doi:10.1186/s12903-024-04296-5Hassona, YazanAlqaisi, Dua'aAlkilani, AsmaAbuHijleh, IyasBioMed CentralBMC Oral Health