Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-38613168
2.
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
3.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
4.
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
J Allergy Clin Immunol
; 150(1): 223-228, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157921
5.
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
6.
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
em Inglês
| MEDLINE | ID: mdl-35396703
7.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.
J Med Genet
; 58(8): 526-533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747439
8.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
9.
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
10.
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
em Inglês
| MEDLINE | ID: mdl-34346503
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.
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
13.
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
em Inglês
| MEDLINE | ID: mdl-24705357
14.
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Hum Mutat
; 36(8): 787-96, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952305
15.
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Am J Med Genet A
; 164A(9): 2351-5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24891296
16.
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
Front Mol Neurosci
; 16: 1170061, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324589
17.
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
J Clin Endocrinol Metab
; 107(3): 668-684, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718610
18.
C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.
Sci Rep
; 11(1): 17133, 2021 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429473
19.
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
J Med Chem
; 64(21): 15973-15990, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714648
20.
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism Relat Disord
; 72: 75-79, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120303