Associated Papers
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity.
Shi P et al.
Advanced Biology, 2023
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
Discovery and refinement of loci associated with lipid levels.
Willer CJ et al.
Nature Genetics, 2013
24097068 (PubMed )
Supplement: NIHMS524703-supplement-1.pdf
Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes.
Zhou T et al.
The Journal of Biological Chemistry, 2010
Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.
Enya M et al.
Human Mutation, 2008
Genotype-phenotype associations in obesity dependent on definition of the obesity phenotype.
Kring SI et al.
Obesity Facts, 2008
Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.
Echwald SM et al.
Human Mutation, 2004
Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects.
Mitchell SM et al.
Diabetes, 2003
Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studies in multiple populations.
Hung CC et al.
Diabetes, 2003
Gender-dependent penetrance of small heterodimer partner (SHP) gene deficiency in overweight/obese Chinese pedigrees.
Yang Z et al.
The Journal of International Medical Research, 0
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