Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
3.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
J Med Genet
; 60(6): 540-546, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600615
4.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
5.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
J Med Genet
; 59(6): 605-612, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910934
6.
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Am J Med Genet A
; 188(3): 991-995, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894068
7.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Int J Mol Sci
; 23(15)2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955418
8.
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Hum Mutat
; 42(6): 787-795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739559
9.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942433
10.
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.
Prenat Diagn
; 41(1): 123-135, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926442
11.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142000
12.
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Int J Mol Sci
; 22(16)2021 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445733
13.
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Int J Mol Sci
; 22(18)2021 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575869
14.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29091570
15.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Clin Genet
; 97(2): 362-369, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600839
16.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
17.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol
; 86(3): 458-462, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301241
18.
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Am J Med Genet A
; 182(11): 2742-2745, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896090
19.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Muscle Nerve
; 59(1): 137-141, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30025162
20.
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Genet Med
; 24(3): 754-756, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906509