Detalhe da pesquisa
1.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
2.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
3.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
4.
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
5.
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
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.
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.
Clin Genet
; 101(4): 454-458, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038173
9.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Hum Mol Genet
; 28(6): 1007-1022, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481304
10.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
11.
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
12.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
13.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Am J Med Genet A
; 185(10): 3153-3160, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159694
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
em Inglês
| MEDLINE | ID: mdl-32112654
15.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Clin Genet
; 98(2): 172-178, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415735
16.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
; 40(6): 721-728, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825388
17.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Hum Mutat
; 40(8): 1046-1056, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059601
18.
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
Clin Genet
; 93(2): 401-407, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374925
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