Detalhe da pesquisa
1.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Genet Med
; 25(7): 100857, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37092539
2.
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.
J Med Genet
; 59(11): 1035-1043, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35115415
3.
Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.
Lancet Diabetes Endocrinol
; 11(3): 182-190, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36822744
4.
Pharmacological HDAC inhibition impairs pancreatic ß-cell function through an epigenome-wide reprogramming.
iScience
; 26(7): 107231, 2023 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37496675
5.
Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Diabetes
; 72(9): 1228-1234, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37083980
6.
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan.
Diabetes
; 71(4): 694-705, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35061034
7.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Orphanet J Rare Dis
; 17(1): 86, 2022 02 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35227307
8.
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Diabetes
; 69(7): 1424-1438, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32349990