Detalhe da pesquisa
1.
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
J Med Genet
; 61(2): 158-162, 2024 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37775264
2.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Br J Dermatol
; 190(2): 226-243, 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37831592
3.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-35941319
4.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36273432
5.
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
BJOG
; 129(11): 1879-1886, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35486001
6.
Breast cancer risk in NF1-deleted patients.
J Med Genet
; 61(5): 428-429, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38154814
7.
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.
Stroke
; 50(4): 789-796, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30908154
8.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clin Chem Lab Med
; 56(5): 728-738, 2018 04 25.
Artigo
Inglês
| MEDLINE | ID: mdl-29613853
9.
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Genes Chromosomes Cancer
; 56(5): 421-426, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28124441
10.
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Am J Med Genet A
; 173(6): 1521-1530, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28422438
11.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
J Med Genet
; 53(11): 743-751, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27317772
12.
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Gastroenterology
; 149(4): 1017-29.e3, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26116798
13.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
J Hum Genet
; 60(4): 221-4, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25631097
14.
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Nat Genet
; 38(12): 1419-23, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17115058
15.
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Hum Mol Genet
; 21(26): 5397-405, 2012 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22962301
16.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
J Mol Diagn
; 26(2): 150-157, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38008284
17.
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Hum Mutat
; 34(11): 1510-8, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23913538
18.
MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.
BMC Genomics
; 14: 473, 2013 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-23848554
19.
Neurofibromatosis type 1: from genotype to phenotype.
J Med Genet
; 49(8): 483-9, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22889851
20.
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
PLoS One
; 18(4): e0280976, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37093806