Detalhe da pesquisa
1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
2.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
3.
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
Hum Mutat
; 43(10): 1354-1360, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723633
4.
Hepatic angiodynamic profile in paediatric patients with hereditary haemorrhagic telangiectasia type 1 and type 2.
Vasa
; 46(3): 195-202, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28248153
5.
Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia.
J Pediatr Hematol Oncol
; 37(3): e200-3, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25222056
6.
A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Clin Neurol Neurosurg
; 237: 108158, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330802
7.
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.
J Pediatr
; 163(1): 179-86.e1-3, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535011
8.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Genes (Basel)
; 14(8)2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628581
9.
Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.
Front Genet
; 13: 990350, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685914
10.
Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
Cancer
; 117(18): 4325-35, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21387278
11.
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?
Eur J Ophthalmol
; 31(3): NP45-NP49, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064917
12.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Genes (Basel)
; 11(12)2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353066
13.
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Genes (Basel)
; 9(4)2018 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673180
14.
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.
Neuromuscul Disord
; 27(4): 377-381, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28215760
15.
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Hum Mutat
; 27(2): 213-4, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16429404
16.
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
BMC Genomics
; 7: 243, 2006 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-16995940
17.
Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors.
Cancer Biol Ther
; 5(2): 198-203, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16397408
18.
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
PLoS One
; 10(4): e0123092, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25915946
19.
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.
Hum Pathol
; 45(10): 2162-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106712
20.
Hypogonadotropic hypogonadism associated with hereditary hemorrhagic telangiectasia [corrected].
Case Rep Endocrinol
; 2013: 465376, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23710379