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1.
Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.
Eur Arch Psychiatry Clin Neurosci
; 273(2): 347-356, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36001138
2.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
J Med Genet
; 54(4): 224-235, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27738188
3.
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
BMC Pulm Med
; 18(1): 196, 2018 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-30577776
4.
Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.
Dermatol Online J
; 24(7)2018 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30261568
5.
RETRACTED: Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.
Dermatol Online J
; 24(9)2018 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30677842
6.
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Ann Neurol
; 80(5): 662-673, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27632223
7.
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.
J Med Genet
; 53(7): 481-7, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26912453
8.
Hb Mozhaisk [ß92(F8)HisâArg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.
Hemoglobin
; 41(4-6): 314-316, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29313431
9.
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.
J Hum Genet
; 61(12): 977-984, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27488443
10.
Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.
Semin Respir Crit Care Med
; 36(2): 180-93, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25826586
11.
Correction of defective CFTR/ENaC function and tightness of cystic fibrosis airway epithelium by amniotic mesenchymal stromal (stem) cells.
J Cell Mol Med
; 18(8): 1631-43, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24894806
12.
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
Am J Respir Cell Mol Biol
; 48(5): 619-25, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23349053
13.
May the new suggested lower borderline limit of sweat chloride impact the diagnostic process for cystic fibrosis?
J Pediatr
; 194: 261-262, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29352589
14.
Amniotic mesenchymal stem cells: a new source for hepatocyte-like cells and induction of CFTR expression by coculture with cystic fibrosis airway epithelial cells.
J Biomed Biotechnol
; 2012: 575471, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22315512
15.
VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Parkinsonism Relat Disord
; 94: 37-39, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34875562
16.
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
Am J Med Genet A
; 155A(4): 778-85, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21416590
17.
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Clin Chem Lab Med
; 49(1): 49-54, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21077791
18.
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.
J Assist Reprod Genet
; 28(5): 461-70, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21360136
19.
Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.
Kidney Int Rep
; 6(6): 1614-1621, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34169201
20.
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
J Biol Chem
; 284(44): 30024-31, 2009 Oct 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-19759008