"The integrated analyses of the genetic and genomic characteristics of each patient enabled the team to improve their ability to reach a diagnosis in many cases," said co-author Dr. Zeynep Coban Akdemir, assistant professor at UT Health School of Public Health-Houston. "Most patients with multil...
Finally, given the sample size and the lack of evidence for protein function, the result of our analysis of associations between genomic characteristics and the onset of PD subtypes should be interpreted with caution and will require further research in future cohorts. In summary, we provided a ...
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome (PJS), an autosomal-dominant disorder characteriz... H Mehenni,N Resta,G Guanti,... - 《Dig Dis ...
Converging evidence increasingly implicates shared etiologic and pathophysiological characteristics among major psychiatric disorders (MPDs), such as schizophrenia (SZ), bipolar disorder (BD), and major depressive disorder (MDD). Examining the neurobiology of the psychotic-affective spectrum may greatly advanc...
Multiple sclerosis is a chronic autoimmune disorder of the central nervous system. In MS, the genetic susceptibility is high and currently there is no effective treatment. MicroRNA, a small non-coding RNA, plays a vital role in immune responses. Aberrant or dysfunctional miRNAs may cause several...
There is a general agreement that a significantly larger number of adolescents have subclinical delayed sleep phase (Delayed Sleep Phase; DSP) characteristics, which is also a source of daytime malfunction (Gradisar et al., 2011). Show abstract Insomnia medications for children, adolescents, and ...
Since genetic screening is not routinely offered, FXS is typically identified through behavioral observation. The variability and subtlety in the expression of FXS make early identification challenging. The article reviews the research and recommends a set of characteristics to enhance the identification ...
The recorded study characteristics included: (1) the first author's name, (2) publication year, (3) sample ethnicity, (4) control and case characteristics, (5) methods used for genotyping and (6) target genes. Statistical analysis. The strengths of the associations between gene ...
Demographic characteristics of the BD subgroups based on clinical patterns and diagnostic subtypes To numerically balance individual pairs of fewer and more occurrences groups with different clinical patterns, patients were categorized on the basis of low (n = 43, less than 10 times) and high ...
a mutation that is positively associated with peripheral neurological disease typically co-segregates with family members exhibiting peripheral neuropathy. The following characteristics are supportive, but are not required for a genetic mutation to be a causative mutation for peripheral neurological disease:...