Detalhe da pesquisa
1.
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance.
Cell
; 176(4): 729-742.e18, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661757
2.
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Cell
; 155(4): 765-77, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24209692
3.
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature
; 463(7281): 666-70, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19966786
4.
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
J Med Genet
; 47(12): 803-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755431
5.
Transcriptomics of the Prader-Willi syndrome hypothalamus.
Handb Clin Neurol
; 181: 369-379, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34238471
6.
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Cell Metab
; 31(6): 1107-1119.e12, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492392
7.
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
Hum Mutat
; 30(2): 204-11, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18726952
8.
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nat Commun
; 10(1): 1718, 2019 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30979869
9.
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.
Cell Rep
; 22(13): 3401-3408, 2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590610
10.
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Mol Metab
; 6(11): 1419-1428, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29107289
11.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Sci Rep
; 7(1): 4394, 2017 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663568
12.
Functional characterization of obesity-associated variants involving the α and ß isoforms of human SH2B1.
Endocrinology
; 155(9): 3219-26, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24971614
13.
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Nat Genet
; 45(5): 513-7, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23563609
14.
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
J Clin Invest
; 123(7): 3042-50, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778139
15.
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Nat Genet
; 45(9): 1055-60, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913004
16.
CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
PLoS One
; 8(3): e59061, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23533600
17.
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
J Clin Invest
; 122(12): 4732-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23160192
18.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Am J Med Genet A
; 143A(16): 1941-9, 2007 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17621648
19.
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
Hum Mol Genet
; 15(8): 1319-28, 2006 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16540516
20.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Am J Med Genet A
; 140(23): 2631-9, 2006 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16838304