Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
J Mol Diagn
; 25(9): 692-701, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37356622
5.
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
Genes (Basel)
; 13(9)2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140824
6.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
J Clin Endocrinol Metab
; 106(1): e152-e170, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029631
7.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Sci Rep
; 11(1): 19922, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620959
8.
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.
Neurol Genet
; 6(6): e530, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33324756
9.
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Front Immunol
; 11: 46, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32117230