(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
identified rare variants of LZTR1 using whole-exome sequencing in 6/50 Brazilian probands
In this study, we characterize the spectrum of mutations causing FH in 40 Turkish probands
suspected to have FH.
Blood was collected from the probands
and their family members; subjects were examined by CT testing and B ultrasonic testing.
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
A clinical and molecular evaluation of two 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.