Detalhe da pesquisa
1.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Hum Genomics
; 17(1): 7, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765386
2.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
3.
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
J Med Genet
; 60(1): 13-24, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876503
4.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
5.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
6.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Mol Genet Genomics
; 297(6): 1601-1613, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002593
7.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
8.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955641
9.
Phenotypic switch of smooth muscle cells in paediatric chronic intestinal pseudo-obstruction syndrome.
J Cell Mol Med
; 25(8): 4028-4039, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33656779
10.
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Br J Haematol
; 192(5): 909-921, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528045
11.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
12.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
13.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
14.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008887
15.
Response to Hall et al.
Am J Hum Genet
; 107(6): 1188-1189, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33275912
16.
"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
Am J Med Genet A
; 176(2): 460-464, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226564
17.
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Eur Radiol
; 28(12): 5293-5303, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802573
18.
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Hum Mutat
; 38(2): 152-159, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27790796
19.
Added Value of Next-Generation Sequencing for Multilocus Sequence Typing Analysis of a Pneumocystis jirovecii Pneumonia Outbreak1.
Emerg Infect Dis
; 23(8): 1237-1245, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726611
20.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Hum Mol Genet
; 24(4): 994-1006, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305077