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1.
Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women.
BMC Cancer
; 22(1): 30, 2022 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34980006
2.
Congenital chloride diarrhea clinical features and management: a systematic review.
Pediatr Res
; 90(1): 23-29, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33173177
3.
The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing.
Int J Mol Sci
; 18(1)2017 Jan 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28067829
4.
A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
Int J Mol Sci
; 17(12)2016 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-28009814
5.
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Clin Chim Acta
; 552: 117625, 2024 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37923102
6.
Identification of an ultra-rare Alu insertion in the CFTR gene: Pitfalls and challenges in genetic test interpretation.
Clin Chim Acta
; 558: 118317, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38580140
7.
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Front Med (Lausanne)
; 9: 894358, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36035419
8.
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Front Immunol
; 13: 985433, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36263058
9.
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Biomolecules
; 12(10)2022 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36291626
10.
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Diagnostics (Basel)
; 11(2)2021 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33567694
11.
Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea.
Front Pediatr
; 9: 810765, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35127600
12.
Case Report: Discovery a Novel SARS-CoV-2 Variant in a Six-Months Long-Term Swab Positive Female Suffering From Non-Hodgkin Lymphoma.
Front Oncol
; 11: 705948, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34354952
13.
Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.
J Clin Med
; 9(12)2020 Nov 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33260873
14.
Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk.
Genes (Basel)
; 11(5)2020 05 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32397162
15.
Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
Cancer
; 120(10): 1594-5, 2014 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24500773
16.
Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis.
Diagnostics (Basel)
; 10(1)2019 Dec 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31888008
17.
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
Cancers (Basel)
; 11(10)2019 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31569370
18.
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
Anal Chim Acta
; 1046: 154-162, 2019 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30482293
19.
Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients.
Sci Rep
; 8(1): 11047, 2018 07 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30038321
20.
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors.
Eur J Prev Cardiol
; 28(10): 1134-1137, 2021 Aug 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32715753