Search details
1.
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Hum Mol Genet
; 30(1): 72-77, 2021 03 25.
Article
in English
| MEDLINE | ID: mdl-33450762
2.
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.
Alzheimer Dis Assoc Disord
; 36(2): 118-124, 2022.
Article
in English
| MEDLINE | ID: mdl-35293381
3.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet
; 103(6): 976-983, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30449416
4.
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis.
Hum Genomics
; 14(1): 30, 2020 09 11.
Article
in English
| MEDLINE | ID: mdl-32917282
5.
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19.
Pharmacol Res
; 164: 105402, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33359911
6.
Corrigendum to "Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19" [Pharmacol. Res. 164 (2021) 105402].
Pharmacol Res
; 168: 105597, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33838999
7.
Communication in refugee and migrant mental healthcare: A systematic rapid review on the needs, barriers and strategies of seekers and providers of mental health services.
Health Policy
; 139: 104949, 2024 01.
Article
in English
| MEDLINE | ID: mdl-38071855
8.
Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?
Am J Med Genet A
; 161A(6): 1214-20, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23637089
9.
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact.
Ann Med
; 55(1): 2195204, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37052252
10.
Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Prion
; 16(1): 19-22, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35167423
11.
Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario.
Biomedicines
; 10(12)2022 Dec 08.
Article
in English
| MEDLINE | ID: mdl-36551936
12.
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Mol Cell Probes
; 24(2): 107-9, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-19836446
13.
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.
Am J Med Genet B Neuropsychiatr Genet
; 153B(7): 1342-6, 2010 Oct 05.
Article
in English
| MEDLINE | ID: mdl-20552675
14.
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling.
Cancers (Basel)
; 12(6)2020 Jun 22.
Article
in English
| MEDLINE | ID: mdl-32580435
15.
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Alzheimers Res Ther
; 12(1): 152, 2020 11 17.
Article
in English
| MEDLINE | ID: mdl-33203472
16.
A proposal of a new evaluation framework towards implementation of genetic tests.
PLoS One
; 14(8): e0219755, 2019.
Article
in English
| MEDLINE | ID: mdl-31381569
17.
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.
Case Rep Endocrinol
; 2019: 8456239, 2019.
Article
in English
| MEDLINE | ID: mdl-30729047
18.
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
J Alzheimers Dis
; 67(1): 243-256, 2019.
Article
in English
| MEDLINE | ID: mdl-30530974
19.
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
J Mol Diagn
; 10(3): 272-5, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18403614
20.
How is genetic testing evaluated? A systematic review of the literature.
Eur J Hum Genet
; 26(5): 605-615, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29422659