Detalhe da pesquisa
1.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Hum Mol Genet
; 31(6): 929-941, 2022 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-34622282
2.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38685873
3.
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Am J Med Genet A
; : e63627, 2024 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38613168
4.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32721402
5.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34382076
6.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33323470
7.
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
J Allergy Clin Immunol
; 150(1): 223-228, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35157921
8.
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
Inglês
| MEDLINE | ID: mdl-31447100
9.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35396703
10.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.
J Med Genet
; 58(8): 526-533, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32747439
11.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29394990
12.
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
Inglês
| MEDLINE | ID: mdl-33354767
13.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clin Genet
; 100(5): 563-572, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34346503
14.
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
Inglês
| MEDLINE | ID: mdl-32112654
15.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Mov Disord
; 38(12): 2313-2314, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37632268
16.
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.
Heart Fail Clin
; 14(2): 225-235, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29525650
17.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28074573
18.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24705357
19.
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nat Genet
; 39(1): 75-9, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17143282
20.
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nat Genet
; 39(8): 1007-12, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17603483