(2) Targeted NGS of 159 known deafness genes identified p.G141R as the only likely pathogenic mutation in
probands of both families (Supplementary Table 2).
Loeys et al., "Effect of mutation type and location on clinical outcome in 1,013
probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study," The American Journal of Human Genetics, vol.
(2) First-degree family members (parents, children, and siblings) of FIPA
probands should be offered genetic testing for their familial AIP mutation following genetic counselling.
Here, we report previously undescribed funduscopic, fundus autofluorescence (FAF), infrared imaging, fluorescein angiography (FA), and SDOCT abnormalities in three
probands with PCD.
identified rare variants of LZTR1 using whole-exome sequencing in 6/50 Brazilian
probands (p.G248R, p.
In this study, we characterize the spectrum of mutations causing FH in 40 Turkish
probands suspected to have FH.
The
probands are a phenotypically normal consanguineous couple who were referred to Center for Comprehensive Genetics Services in summer 2015 because of their history of 4 consecutive first trimester fetal loss.
All the
probands studied were compared with respect to their parental education, occupation, religion, presence of consanguineous relationship in parents and degree of consanguinity and accordingly classification of
probands was done.
A clinical and molecular evaluation of two
probands with SGBS.
"
Probands with chronic migraine and their spouses perceive a higher rate of burden on children," Dr.
The authors first established maternal haplotypes and identified the mutated haplotype from 4 DMD pregnant carrier female carriers and the respective
probands. The major challenge of this application was the ability to detect haplotype dosage imbalance in the small amount of fetal DNA in the plasma from the mothers.