Detalhe da pesquisa
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
2.
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
J Pathol
; 263(2): 166-177, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38629245
3.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Hum Mol Genet
; 31(4): 561-575, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508588
4.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969032
5.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
6.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
7.
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
Clin Genet
; 104(1): 136-138, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757675
8.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981895
9.
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Int J Mol Sci
; 24(9)2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175696
10.
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
11.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
12.
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study.
Am J Med Genet A
; 188(2): 422-430, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913244
13.
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.
Am J Med Genet A
; 188(2): 414-421, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854525
14.
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Clin Genet
; 99(3): 457-461, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354767
15.
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
16.
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Am J Hum Genet
; 99(4): 974-983, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666369
17.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666370
18.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Mov Disord
; 38(12): 2313-2314, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632268
19.
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Hum Mutat
; 38(7): 798-804, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390077
20.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573