Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-37831592
2.
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
em Inglês
| MEDLINE | ID: mdl-35941319
3.
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
em Inglês
| MEDLINE | ID: mdl-36273432
4.
Breast cancer risk in NF1-deleted patients.
J Med Genet
; 61(5): 428-429, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154814
5.
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
BMC Med Genomics
; 17(1): 73, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448973
6.
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
em Inglês
| MEDLINE | ID: mdl-38008284
7.
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.
Eur J Hum Genet
; 31(11): 1337-1341, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670079
8.
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.
J Clin Endocrinol Metab
; 107(1): e224-e235, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406383
9.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Eur J Hum Genet
; 30(3): 291-297, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897289
10.
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
J Clin Endocrinol Metab
; 107(4): e1367-e1373, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897474
11.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199217
12.
Should we genotype the sperm of fathers from patients with 'de novo' mutations?
Eur J Endocrinol
; 182(1): C1-C3, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658441
13.
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.
Gene
; 753: 144793, 2020 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446918
14.
Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in Clinically Amyopathic Dermatomyositis Patients: Report of Two Cases With Distinct Clinical Features.
Front Med (Lausanne)
; 7: 77, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32211415
15.
One NF1 Mutation may Conceal Another.
Genes (Basel)
; 10(9)2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443423
16.
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Eur J Hum Genet
; 31(4): 380-382, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732663
17.
Study of two comparison procedures applied to biochemical results from twin analyzers.
Ann Biol Clin (Paris)
; 75(5): 589-594, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28958971
18.
Discovery of diabetes in the elderly: what diagnosis?
Ann Biol Clin (Paris)
; 75(2): 222-224, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377335