Detalhe da pesquisa
1.
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Br J Haematol
; 204(2): 595-605, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945316
2.
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Hum Mol Genet
; 31(1): 10-17, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254124
3.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
4.
Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases.
Pediatr Dermatol
; 40(4): 691-694, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707059
5.
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.
Hum Mutat
; 43(12): 1866-1871, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116039
6.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31108500
7.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Am J Hum Genet
; 104(6): 1223-1232, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130282
8.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
9.
Profiling of the Bacterial Microbiota along the Murine Alimentary Tract.
Int J Mol Sci
; 23(3)2022 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163705
10.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
11.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
; 41(6): 1171-1182, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112654
12.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579715
13.
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
Am J Med Genet A
; 182(7): 1681-1689, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488952
14.
Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
Am J Med Genet A
; 182(4): 773-779, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999076
15.
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.
Am J Respir Crit Care Med
; 209(10): 1266-1268, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38377348
16.
Correction: Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.
PLoS Genet
; 13(6): e1006843, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28622382
17.
Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.
PLoS Genet
; 13(3): e1006684, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346493
18.
Variants in nuclear factor I genes influence growth and development.
Am J Med Genet C Semin Med Genet
; 181(4): 611-626, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730271
19.
Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo.
EMBO J
; 34(8): 1056-77, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652077
20.
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
Am J Med Genet A
; 179(5): 832-836, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30803155