scholarly journals Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

Thyroid ◽  
2016 ◽  
Vol 26 (9) ◽  
pp. 1215-1224 ◽  
Author(s):  
Christoffer Löf ◽  
Konrad Patyra ◽  
Teemu Kuulasmaa ◽  
Jagadish Vangipurapu ◽  
Henriette Undeutsch ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Variants ◽  
Patient Cohort ◽  
Novel Gene ◽  
Finnish Patient

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

2018 ◽  
Vol 37 (8) ◽  
pp. 1713-1721
Author(s):  
Lei He ◽  
Guofeng Xu ◽  
Xiaoliang Fang ◽  
Houwei Lin ◽  
Maosheng Xu ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Chinese Children ◽  
Urinary Stones ◽  
Gene Variants ◽  
Novel Gene

scholarly journals Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults

Cytokine ◽  
2014 ◽  
Vol 65 (1) ◽  
pp. 10-16 ◽  
Author(s):  
A.M. Matteini ◽  
J. Li ◽  
E.M. Lange ◽  
T. Tanaka ◽  
L.A. Lange ◽  
...  
Keyword(s):  
Older Adults ◽  
Serum Levels ◽  
Gene Variants ◽  
Novel Gene

scholarly journals Identifying Novel Gene Variants in Coronary Artery Disease and Shared Genes With Several Cardiovascular Risk Factors

2016 ◽  
Vol 118 (1) ◽  
pp. 83-94 ◽  
Author(s):  
Marissa LeBlanc ◽  
Verena Zuber ◽  
Bettina Kulle Andreassen ◽  
Aree Witoelar ◽  
Lingyao Zeng ◽  
...  
Keyword(s):  
Risk Factors ◽  
Coronary Artery Disease ◽  
Cardiovascular Risk ◽  
Coronary Artery ◽  
Cardiovascular Risk Factors ◽  
Gene Variants ◽  
Novel Gene ◽  
Artery Disease

scholarly journals Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Xiaowei Sylvia Chen ◽  
Rose H. Reader ◽  
Alexander Hoischen ◽  
Joris A. Veltman ◽  
Nuala H. Simpson ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Gene Variants ◽  
Next Generation ◽  
Specific Language ◽  
Next Generation Dna Sequencing ◽  
Novel Gene

scholarly journals Novel gene variants in patients with platelet‐based bleeding using combined exome sequencing and RNAseq murine expression data

2020 ◽  
Vol 19 (1) ◽  
pp. 262-268 ◽  
Author(s):  
Abdullah O. Khan ◽  
Rachel J. Stapley ◽  
Jeremy A. Pike ◽  
Susanne.N. Wijesinghe ◽  
Jasmeet S. Reyat ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Gene Variants ◽  
Expression Data ◽  
Novel Gene

scholarly journals Identification of Novel Gene variants in Patients with Alzheimer’s Disease by Whole Exome Sequencing

2020 ◽  
Vol 4 (1) ◽  
pp. 001-004
Author(s):  
Pan Xiaodong ◽  
Yang Murong ◽  
Xiang Jingjing ◽  
Pan Qi ◽  
Yang Menghao ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Variants ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

2019 ◽  
Vol 08 (02) ◽  
pp. 041-046
Author(s):  
Ariadna González-del Angel ◽  
Liliana Fernández-Hernández ◽  
Iraís Sánchez-Verdiguel ◽  
Aidy González-Núñez ◽  
Víctor Martínez-Cruz ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Congenital Hypothyroidism ◽  
Sanger Sequencing ◽  
Mexican Population ◽  
Etiological Factor ◽  
Gene Variants ◽  
Major Contributor ◽  
Thyroid Dysgenesis ◽  
Pathogenic Variants ◽  
High Prevalence

AbstractCongenital hypothyroidism (CH), attributable to thyroid dysgenesis (TD), has an unusually high prevalence in Mexican population but the causes are unknown. NKX2-1, as a candidate gene, was subjected to automated Sanger sequencing in 122 unrelated Mexican patients with CH/TD. Although this study includes the largest number of TD-related CH patients in whom NKX2-1 has been analyzed, no pathogenic variants were detected; only three benign polymorphic changes were identified. These results suggest that NKX2-1 is not a major contributor to the etiology of CH or its high prevalence in Mexicans. Our work identifies misannotations of NKX2-1 variants in three previous published reports.

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