Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
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.
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
5.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Am J Hum Genet
; 108(1): 100-114, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352116
6.
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
7.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
8.
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
9.
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Am J Med Genet A
; 191(11): 2783-2792, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697822
10.
Cross-cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.
Int J Lang Commun Disord
; 58(4): 1223-1231, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734311
11.
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Int J Lang Commun Disord
; 2023 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982346
12.
Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review.
Sensors (Basel)
; 23(13)2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37447818
13.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
14.
Bone health in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 459-470, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461161
15.
Dermatological manifestations, management, and care in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 452-458, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541891
16.
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Am J Med Genet C Semin Med Genet
; 190(4): 478-493, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515923
17.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Am J Med Genet C Semin Med Genet
; 190(4): 501-509, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448195
18.
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
19.
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
20.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840