Search Results - "Pelo E"

Anderson-Fabry disease with cerebrovascular complications in two Italian families.

Authors: Borsini, W. Giuliacci, G. Torricelli, F. et al.

Source: Neurological Sciences. Jun2002, Vol. 23 Issue 2, p49. 5p.

Subjects: Neurological disorders, Brain diseases

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Authors: Fortunato, P. Pagliazzi, A. Bargiacchi, S. et al.

Source: Ophthalmic Genetics. Feb2023, Vol. 44 Issue 1, p35-42. 8p.

IMPROVEMENT OF MOLECULAR TECHNOLOGIES AND PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS

Authors: Pelo, E. Centrone, C. Giuliani, C. et al.

Source: Journal of Cystic Fibrosis. Jul2008, Vol. 7, pS11-S12. 0p.

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011).

Authors: Censi, F. Tosto, F. Floridia, G. et al.

Source: BioMed Research International. 2013, Vol. 2013, p1-8. 8p.

13 The CFTR S737F(c.2210C>T) mutation: genotype/phenotype correlation in seven subjects

Authors: Repetto, T. Centrone, C. Pelo, E. et al.

Source: Journal of Cystic Fibrosis. Jun2011 Supplement 1, Vol. 10, pS4-S4. 1p.

CF gene large deletions: possible genotype/phenotype association

Authors: Repetto, T. Centrone, C. Pelo, E. et al.

Source: Journal of Cystic Fibrosis. Jun2008 Supplement 2, Vol. 7, pS6-S6. 1p.

Two decades of genetic testing in hypertrophic cardiomyopathy in a single center: The additive value of extended next-generation sequencing panels lies in the early diagnosis of metabolic mimics.

Authors: Girolami, F. Boschi, B. Barlocco, F. et al.

Source: Vascular Pharmacology. Apr2018, Vol. 103, p63-63. 1p.

WS21.6 11 years of newborn screening (NBS): the experience in Tuscany, Italy

Authors: Repetto, T. Zavataro, L. Mergni, G. et al.

Source: Journal of Cystic Fibrosis. Jun2012 Supplement, Vol. 11 Issue s1, pS48-S48. 1p.

A multidisciplinary model for implementation of nephrogenetics in CKD outpatients: a clinical and data-driven perspective.

Authors: Mazzierli T Tsalouchos A Gallo P et al.

Source: Journal of nephrology [J Nephrol] 2026 May 20. Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE

Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.

Authors: Bacci GM Fortunato P Cestaro S et al.

Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Jun; Vol. 46 (3), pp. 267-275. Date of Electronic Publication: 2025 Mar 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

A Novel, Ruxolitinib-Sensitive, CCDC6::JAK2 Fusion Gene in a Patient With Atypical, JAK2 Unmutated, Polycythemia Vera-Like, Myeloproliferative Neoplasm.

Authors: Bartalucci N Tarantino D Loscocco GG et al.

Source: American journal of hematology [Am J Hematol] 2026 Feb; Vol. 101 (2), pp. 379-383. Date of Electronic Publication: 2025 Dec 03.

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype-Phenotype Correlations.

Authors: Spagnuolo V Piergentili M Passerini I et al.

Source: Current issues in molecular biology [Curr Issues Mol Biol] 2025 Mar 20; Vol. 47 (3). Date of Electronic Publication: 2025 Mar 20.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100931761 Publication Model: Electronic Cited Medium: Internet ISSN: 1467-3045 (Electronic) Linking ISSN: 14673037 NLM ISO Abbreviation: Curr Issues Mol Biol Subsets: PubMed not MEDLINE

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.

Authors: Giansanti F Nicolosi C Giorgio D et al.

Source: Genes [Genes (Basel)] 2024 Jul 04; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 04.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Looking into the Quantification of Forensic Samples with Real-Time PCR.

Authors: Ricci U Ciappi D Carboni I et al.

Source: Genes [Genes (Basel)] 2024 Jun 09; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 09.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Authors: Capacci E Bagnoli S Giacomucci G et al.

Source: Cerebellum (London, England) [Cerebellum] 2024 Jun; Vol. 23 (3), pp. 1135-1145. Date of Electronic Publication: 2023 Oct 31.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.

Authors: Piergentili M Spagnuolo V Murro V et al.

Source: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2024 May 11; Vol. 60 (5). Date of Electronic Publication: 2024 May 11.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

IgA Nephropathy With Membranoproliferative Pattern and Resistance to Immunosuppressive Therapy in Two Patients With Cofactor I Pathogenic Variant.

Authors: Mazzierli T Gallo P Giuliani C et al.

Source: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2025 Jul; Vol. 30 (7), pp. e70092.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE

Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload.

Authors: Atanasio A Bernabini S Consagra A et al.

Source: International journal of laboratory hematology [Int J Lab Hematol] 2023 Oct; Vol. 45 (5), pp. 784-787. Date of Electronic Publication: 2023 Mar 22.

Publication Type: Letter; Comment

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1751-553X (Electronic) Linking ISSN: 17515521 NLM ISO Abbreviation: Int J Lab Hematol Subsets: MEDLINE

Editorial: Unravelling the basis of non-invasive prenatal screening results.

Authors: De Falco L Pelo E Qi Z et al.

Source: Frontiers in genetics [Front Genet] 2023 Jul 17; Vol. 14, pp. 1247764. Date of Electronic Publication: 2023 Jul 17 (Print Publication: 2023).

Publication Type: Editorial

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Authors: Tadros R Zheng SL Grace C et al.

Corporate Authors: Tadros R Zheng SL Grace C et al.

Source: Nature genetics [Nat Genet] 2025 Mar; Vol. 57 (3), pp. 530-538. Date of Electronic Publication: 2025 Feb 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE