Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
ERα Signaling in GHRH/Kiss1 Dual-Phenotype Neurons Plays Sex-Specific Roles in Growth and Puberty.
J Neurosci
; 40(49): 9455-9466, 2020 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158965
3.
Insulin signaling in LepR cells modulates fat and glucose homeostasis independent of leptin.
Am J Physiol Endocrinol Metab
; 316(1): E121-E134, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376348
4.
Can H2 -receptor upregulation and raised histamine explain an anaphylactoid reaction on cessation of ranitidine in a 19-year-old female? A case report.
Br J Clin Pharmacol
; 84(7): 1611-1616, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29667234
5.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Am J Hum Genet
; 94(6): 884-90, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814193
6.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int
; 89(2): 468-475, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489029
7.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Am J Hum Genet
; 93(2): 336-45, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891469
8.
Leptin receptor null mice with reexpression of LepR in GnRHR expressing cells display elevated FSH levels but remain in a prepubertal state.
Am J Physiol Regul Integr Comp Physiol
; 310(11): R1258-66, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101301
9.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nat Genet
; 38(6): 674-81, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682973
10.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int
; 85(4): 880-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257694
11.
Glutamate neurotransmission from leptin receptor cells is required for typical puberty and reproductive function in female mice.
bioRxiv
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790549
12.
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Hum Genet
; 132(8): 865-84, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559409
13.
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
J Med Genet
; 49(12): 756-67, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188109
14.
Deletion of Androgen Receptor in LepRb Cells Improves Estrous Cycles in Prenatally Androgenized Mice.
Endocrinology
; 164(3)2023 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683455
15.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
J Med Genet
; 48(2): 105-16, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068128
16.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet
; 5(1): e1000353, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165332
17.
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney Int
; 80(11): 1239-45, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21866095
18.
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Hum Genet
; 129(1): 79-90, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21052717
19.
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
Pediatr Nephrol
; 26(6): 967-71, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258817
20.
Dissociated Pmch and Cre Expression in Lactating Pmch-Cre BAC Transgenic Mice.
Front Neuroanat
; 14: 60, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32982701