Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
3.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
4.
Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand.
Development
; 141(20): 3879-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231763
5.
Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling.
Dev Biol
; 402(2): 239-52, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848697
6.
Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning.
Development
; 140(16): 3423-34, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23900540
7.
The transcription factor GLI1 modulates the inflammatory response during pancreatic tissue remodeling.
J Biol Chem
; 289(40): 27727-43, 2014 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104358
8.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Life Sci Alliance
; 7(3)2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182161
9.
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.
NPJ Genom Med
; 8(1): 7, 2023 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36878902
10.
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
JAMA Netw Open
; 6(5): e2312231, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155167
11.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
; 14(1): 4109, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433783
12.
Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency.
J Pediatr
; 186: 179-182, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410752
13.
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.
Eur J Med Genet
; 63(4): 103802, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698102
14.
Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function.
J Cell Biol
; 209(5): 739-57, 2015 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26056142
15.
Dosage-dependent regulation of pancreatic cancer growth and angiogenesis by hedgehog signaling.
Cell Rep
; 9(2): 484-94, 2014 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25310976