Search details
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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-34348961
3.
The vestibular calyceal junction is dismantled following subchronic streptomycin in rats and sensory epithelium stress in humans.
Arch Toxicol
; 97(7): 1943-1961, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37195449
4.
Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.
Pediatr Dermatol
; 40(1): 179-181, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36151877
5.
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Hum Mutat
; 43(1): 74-84, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34747535
6.
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Bioinformatics
; 37(22): 4227-4229, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-33983414
7.
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.
Article
in English
| MEDLINE | ID: mdl-31573083
8.
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.
Article
in English
| MEDLINE | ID: mdl-29774626
9.
Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas.
JCI Insight
; 9(3)2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38175707
10.
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.
Article
in English
| MEDLINE | ID: mdl-36818284
11.
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.
Article
in English
| MEDLINE | ID: mdl-36420221
12.
Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas.
Cell Rep
; 38(7): 110385, 2022 02 15.
Article
in English
| MEDLINE | ID: mdl-35172160
13.
Centrosome dysfunction in Drosophila neural stem cells causes tumors that are not due to genome instability.
Curr Biol
; 18(16): 1209-14, 2008 Aug 26.
Article
in English
| MEDLINE | ID: mdl-18656356
14.
Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.
Ophthalmic Genet
; 42(4): 474-479, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33886416
15.
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.
Article
in English
| MEDLINE | ID: mdl-33574490
16.
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Eur J Hum Genet
; 28(12): 1645-1655, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32561899
17.
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.
Stem Cell Reports
; 12(2): 411-426, 2019 02 12.
Article
in English
| MEDLINE | ID: mdl-30713041
18.
PTOV1 enables the nuclear translocation and mitogenic activity of flotillin-1, a major protein of lipid rafts.
Mol Cell Biol
; 25(5): 1900-11, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15713644
19.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
JAMA Dermatol
; 154(3): 341-346, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29322178
20.
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.
Article
in English
| MEDLINE | ID: mdl-28051113