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1.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
J Med Genet
; 59(10): 1017-1023, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35121649
2.
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
J Med Genet
; 59(7): 678-686, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34348961
3.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Clin Genet
; 97(2): 264-275, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31573083
4.
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.
Hum Mutat
; 39(8): 1112-1125, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29774626
5.
Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas.
JCI Insight
; 9(3)2024 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38175707
6.
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
iScience
; 26(2): 106096, 2023 Feb 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36818284
7.
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Mol Ther Nucleic Acids
; 30: 493-505, 2022 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36420221
8.
Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation.
Sci Rep
; 11(1): 3661, 2021 02 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33574490
9.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
JAMA Dermatol
; 154(3): 341-346, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29322178
10.
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Sci Rep
; 7: 39348, 2017 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28051113
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