Detalhe da pesquisa
1.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; : 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
2.
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
J Med Genet
; 59(12): 1171-1178, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803701
3.
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci
; 24(10)2023 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240244
4.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661771
5.
The postnatal leptin surge in mice is variable in both time and intensity and reflects nutritional status.
Int J Obes (Lond)
; 46(1): 39-49, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34475504
6.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585832
7.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Am J Hum Genet
; 103(1): 100-114, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29979980
8.
Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study.
Diabetes Obes Metab
; 23(3): 850-853, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236485
9.
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.
Hum Mol Genet
; 26(23): 4606-4616, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973544
10.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet
; 98(3): 562-570, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942288
11.
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.
FASEB J
; 32(7): 3946-3956, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29466054
12.
FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene expression via 6mA DNA modifications.
J Lipid Res
; 59(8): 1446-1460, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934339
13.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Am J Hum Genet
; 92(6): 996-1000, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23731537
14.
ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression.
Biochem Biophys Res Commun
; 477(4): 712-716, 2016 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353377
15.
Genetic loss of SH2B3 in acute lymphoblastic leukemia.
Blood
; 122(14): 2425-32, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23908464
16.
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Fetal Diagn Ther
; 38(4): 296-306, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25998219
17.
Neurodevelopmental Programming of Adiposity: Contributions to Obesity Risk.
Endocr Rev
; 45(2): 253-280, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37971140
18.
IgG is an aging factor that drives adipose tissue fibrosis and metabolic decline.
Cell Metab
; 36(4): 793-807.e5, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378001
19.
Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach.
bioRxiv
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38559260
20.
De novo copy number variants are associated with congenital diaphragmatic hernia.
J Med Genet
; 49(10): 650-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054247