Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-34508588
2.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35348676
3.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Eur J Pediatr
; 2024 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38634892
4.
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
Inglês
| MEDLINE | ID: mdl-35256403
5.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33186545
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36322151
7.
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
Clin Genet
; 104(1): 136-138, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36757675
8.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37455656
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
Inglês
| MEDLINE | ID: mdl-37697822
10.
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.
Am J Med Genet A
; 191(1): 84-89, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36254687
11.
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
Inglês
| MEDLINE | ID: mdl-36734311
12.
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
Inglês
| MEDLINE | ID: mdl-37982346
13.
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
Inglês
| MEDLINE | ID: mdl-36515923
14.
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
Inglês
| MEDLINE | ID: mdl-36448195
15.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34906488
16.
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.
Clin Genet
; 101(4): 454-458, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35038173
17.
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
Am J Med Genet A
; 188(7): 2184-2186, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35373511
18.
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?
Am J Med Genet A
; 188(11): 3287-3293, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35894438
19.
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
Inglês
| MEDLINE | ID: mdl-34913244
20.
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.
Am J Med Genet A
; 188(2): 431-445, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34643321