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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35256403
2.
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Genes Chromosomes Cancer;
62(12): 703-709, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37395289
3.
The inflationary effects of sectoral reallocation.
J Monet Econ;
2023 Mar 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37363635
4.
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Genes Chromosomes Cancer;
61(11): 689-695, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35778969
5.
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Clin Genet;
99(5): 719-723, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33506498
6.
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.
J Cyst Fibros;
2024 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38320874
7.
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.
Eur J Intern Med;
115: 79-87, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37183082
8.
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Genes (Basel);
14(12)2023 11 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38136956
9.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Genes (Basel);
14(8)2023 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37628581
10.
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Cancers (Basel);
14(2)2022 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35053526
11.
Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.
Int J Environ Res Public Health;
18(9)2021 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33946243
12.
Evidence of an interaction between FXR1 and GSK3ß polymorphisms on levels of Negative Symptoms of Schizophrenia and their response to antipsychotics.
Eur Psychiatry;
64(1): e39, 2021 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33866994
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