Targeted Exome Sequencing in South Indian patients with Familial Hypercholesterolemia

2022 ◽  
Author(s):  
Krishna Kumar B. Pillai ◽  
Swarup A. V. Shah ◽  
Lakshmi Lavanya Reddy ◽  
Tester F. Ashavaid ◽  
Sunitha Vishwanathan
Keyword(s):  
Exome Sequencing ◽  
Familial Hypercholesterolemia ◽  
Targeted Exome Sequencing ◽  
Indian Patients ◽  
South Indian

scholarly journals Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e94697 ◽  
Author(s):  
Wen-Feng Wu ◽  
Li-Yuan Sun ◽  
Xiao-Dong Pan ◽  
Shi-Wei Yang ◽  
Lv-Ya Wang
Keyword(s):  
Exome Sequencing ◽  
Familial Hypercholesterolemia ◽  
Genetic Diagnosis ◽  
Targeted Exome Sequencing

Assessment of atypical antipsychotics induced Metabolic syndreme among South Indian patients with psucjoatroc illnesses

2019 ◽  
Vol 10 (2) ◽  
Author(s):  
NIVEDITHA P ◽  
NANISHA N V ◽  
MONISHA S ◽  
SUMA SRI N ◽  
PADMAPRIYA C ◽  
...  
Keyword(s):  
Atypical Antipsychotics ◽  
Indian Patients ◽  
South Indian

scholarly journals Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Gilyazetdinov Kamil ◽  
Ju Young Yoon ◽  
Sukdong Yoo ◽  
Chong Kun Cheon
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Large Scale ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Connective Tissue Diseases ◽  
Cleidocranial Dysplasia ◽  
Facial Features ◽  
Targeted Exome Sequencing

Abstract Background Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). Methods Thirty-four patients in South Korea with suspected syndromic disorders based on abnormal growth and dysmorphic facial features, developmental delay, or accompanying anomalies were enrolled in 2018–2020 and evaluated by TES. Results For 17 of 34 patients with suspected syndromic SS, a genetic diagnosis was obtained by TES. The mean SDS values for height, IGF-1, and IGFBP-3 for these 17 patients were − 3.27 ± 1.25, − 0.42 ± 1.15, and 0.36 ± 1.31, respectively. Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu–Cheney syndrome, Sheldon–Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). After re-classification by clinical reassessment, including family member testing and segregation studies, 42.1% of variants were pathogenic, 42.1% were likely pathogenic variant, and 15.7% were variants of uncertain significance. Ultra-rare diseases accounted for 12 out of 15 genetic diseases (80%). Conclusions A high positive result from genetic testing suggests that TES may be an effective diagnostic approach for patients with syndromic SS, with implications for genetic counseling. These results expand the mutation spectrum for rare genetic diseases related to SS in Korea.

scholarly journals Effect of Spironolactone and Amiloride on Thiazolidinedione-Induced Fluid Retention in South Indian Patients with Type 2 Diabetes

2012 ◽  
Vol 8 (2) ◽  
pp. 225-232 ◽  
Author(s):  
Vijay Viswanathan ◽  
Viswanathan Mohan ◽  
Poongothai Subramani ◽  
Nandakumar Parthasarathy ◽  
Gayathri Subramaniyam ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Fluid Retention ◽  
Indian Patients ◽  
South Indian

Increased forefoot to rearfoot plantar pressure ratio in South Indian patients with diabetic foot ulceration

2004 ◽  
Vol 21 (4) ◽  
pp. 396-397 ◽  
Author(s):  
V. Viswanathan ◽  
M. Sivagami ◽  
R. Seena ◽  
C. Snehalatha ◽  
A. Ramachandran ◽  
...  
Keyword(s):  
Diabetic Foot ◽  
Plantar Pressure ◽  
Pressure Ratio ◽  
Foot Ulceration ◽  
Indian Patients ◽  
South Indian

scholarly journals T-cell receptor gamma and delta gene rearrangements and junctional region characteristics in south Indian patients with T-cell acute lymphoblastic leukemia

2007 ◽  
Vol 82 (3) ◽  
pp. 215-221 ◽  
Author(s):  
Natarajan Sudhakar ◽  
Nirmala Karunakaran Nancy ◽  
Kamalalayam Raghavan Rajalekshmy ◽  
Ganapathi Ramanan ◽  
Thangarajan Rajkumar
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
T Cell Receptor ◽  
Lymphoblastic Leukemia ◽  
Cell Receptor ◽  
Gene Rearrangements ◽  
Junctional Region ◽  
Indian Patients ◽  
South Indian ◽  
Cell Acute Lymphoblastic Leukemia
Sign in / Sign up

Export Citation Format

Share Document