Hampel H, Sweet K, Westman JA, et al. Referral for cancer genetics consultation: A review and compilation of risk assessment criteria. J Med Genet. 2004;41(2):81-91. Langfelder-Schwind E, Karczeski B, Strecker MN, et al. Molecular testing for cystic fibrosis carrier status practice guide...
Carrier screening of female reproductive partner planning a pregnancy and has family history of AIS consistent with X-linked inheritance (i.,e., affected 46,XY individuals, manifesting heterozygous females (46,XX)); or Prenatal testing in the offspring of the biological parent with confirmed AR mu...
a polymorphism including multiple disease-associated genes with mRNA levels associated with the inversion genotype32. The inversion polymorphism has been associated with psychiatric and behavioral traits such as neuroticism33and obesity-related diseases34. We therefore determined inversion carrier status and f...
There are 15 distinct communities of SNPs shown in the ME/CFS Pain Questionnaire disease architecture comprising between 142 to 744 of the 2382 cases (Additional file1: Table S8). Odds ratios of the communities range from 2.16 to 4.47 andp-values from 10–10to 10–72. These share low (<...
. Importantly, carrier couples were not more likely to experience a miscarriage if one parent was a carrier (OR = 1.04 [95% CI: 0.94–1.15], P = 0.45, N couples = 2034, N miscarriage = 554) (Supplementary Data 19). This indicates that the effect of the c.946-1 G ...
[10]. Of note, a recent study by Nilay et al. 2020 showed carrier frequency of 1 in 38 for SMA in the North Indian population [20], higher than that previously reported in the US, Australia, Europe and UK [58,59]. This is probably one of the reasons for the high SMA cases in ...
The function of plsX has not been fully elucidated, but it is suspected to play a role in fatty acid metabolism, possibly regulating the intracellular concentration of acyl-[acyl carrier protein] (acyl-ACP) [71]. Many genes associated with lipid metabolism are differentially expressed in G3.2....
Manifesting female carrier DMD/BMD ID +/- behavioural disorders may be only symptom or precede heart/muscle - >10x n, typically 400 – 13,000 U/l 30% behavioural problems and delayed speech DMD (X-inactivation, chromosomal abnormalities) Myotonic dystrophy 1 infantile (1–10ys), classical(...
Z14.01 -hyphen Z14.02 Asymptomatic and symptomatic hemophilia A carrier Z14.1 Cystic fibrosis carrier Z14.8 Genetic carrier of other disease ICD-hyphen10 codes not covered for indications listed in the CPB: N96 Recurrent pregnancy loss Q99.8 Other specified chromosome abnormalities [not covered for V...
Third, our results provide new insights into the role that common genetic variants play in determining the structure and function of the heart, even in the context of rare, high-impact mutations in cardiomyopathy-related genes. In a prior analysis of TTNtv, TTNtv carrier status associated with...