Detalhe da pesquisa
1.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol
; 44(2): 60, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324161
2.
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Am J Med Genet A
; 194(1): 82-87, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750385
3.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
4.
RNA therapeutics for neurological diseases.
Br Med Bull
; 147(1): 50-61, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37210633
5.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
6.
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
Am J Med Genet A
; 191(5): 1395-1400, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756855
7.
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
Am J Med Genet A
; 191(7): 1973-1977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102432
8.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
J Med Genet
; 59(8): 781-784, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353862
9.
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
em Inglês
| MEDLINE | ID: mdl-33323470
10.
Cortical route for facelike pattern processing in human newborns.
Proc Natl Acad Sci U S A
; 116(10): 4625-4630, 2019 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755519
11.
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.
J Assist Reprod Genet
; 39(5): 1177-1181, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35352317
12.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
Hum Mutat
; 42(1): 102-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252173
13.
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Hum Mutat
; 42(3): 272-289, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326653
14.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
15.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675273
16.
Sleep and Psychological Difficulties in Italian School-Age Children During COVID-19 Lockdown.
J Pediatr Psychol
; 46(2): 153-167, 2021 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517438
17.
The interplay between mothers' and children behavioral and psychological factors during COVID-19: an Italian study.
Eur Child Adolesc Psychiatry
; 30(9): 1401-1412, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865654
18.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488467
19.
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
Br J Haematol
; 190(1): 93-104, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080838
20.
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
Brain
; 142(7): 1905-1920, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31143934