Dell'Edera D - Search Results

1

p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

Salvatore D, Dell'Edera D, Colangelo C, Smaldore G. Salvatore D, et al. Int J Urol. 2015 Aug;22(8):803-4. doi: 10.1111/iju.12801. Epub 2015 May 5. Int J Urol. 2015. PMID: 25944622 No abstract available.

2

Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Dell'Edera D, Benedetto M, Gadaleta G, Carone D, Salvatore D, Angione A, Gallo M, Milo M, Pisaturo ML, Di Pierro G, Mazzone E, Epifania AA. Dell'Edera D, et al. J Med Case Rep. 2014 Oct 10;8:339. doi: 10.1186/1752-1947-8-339. J Med Case Rep. 2014. PMID: 25304080 Free PMC article.

3

Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.

Salvatore D, Dell'Edera D, Colangelo C, Smaldore G. Salvatore D, et al. Clin Genet. 2016 Aug;90(2):186-7. doi: 10.1111/cge.12733. Epub 2016 Feb 9. Clin Genet. 2016. PMID: 26856987 No abstract available.

4

Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies.

Dell'Edera D, Malvasi A, Vitullo E, Epifania AA, Tinelli A, Laterza F, Novelli A, Pacella E, Mazzone E, Novelli G. Dell'Edera D, et al. Eur Rev Med Pharmacol Sci. 2010 Nov;14(11):947-57. Eur Rev Med Pharmacol Sci. 2010. PMID: 21284344

5

Incidence of β-thalassemia carrier on 1495 couples in preconceptional period.

Dell'Edera D, Epifania AA, Malvasi A, Pacella E, Tinelli A, Capalbo A, Lioi MB, Di Renzo G. Dell'Edera D, et al. J Matern Fetal Neonatal Med. 2013 Mar;26(5):445-8. doi: 10.3109/14767058.2012.735998. Epub 2012 Oct 30. J Matern Fetal Neonatal Med. 2013. PMID: 23039078

6

Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders.

Dell'Edera D, Debellis L, Mitidieri A, Anna Epifania A, Cuscianna E, Allegretti A. Dell'Edera D, et al. Clin Case Rep. 2020 Feb 14;8(3):539-544. doi: 10.1002/ccr3.2729. eCollection 2020 Mar. Clin Case Rep. 2020. PMID: 32185055 Free PMC article.

7

7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case.

Dell'Edera D, Allegretti A, Forte F, Dell'Edera RA, Dell'Edera MT, Epifania AA, Mercuri L, Catacchio CR, Mitidieri A, Simone F, Ventura M. Dell'Edera D, et al. Eur Rev Med Pharmacol Sci. 2021 Apr;25(7):2949-2957. doi: 10.26355/eurrev_202104_25548. Eur Rev Med Pharmacol Sci. 2021. PMID: 33877658 Free article.

8

Importance of molecular biology in the characterization of beta-thalassemia carriers.

Dell'Edera D, Pacella E, Epifania AA, Benedetto M, Tinelli A, Mazzone E, Laterza F, Malvasi A. Dell'Edera D, et al. Eur Rev Med Pharmacol Sci. 2011 Jan;15(1):79-86. Eur Rev Med Pharmacol Sci. 2011. PMID: 21381502

9

[Importance of the molecular diagnosis in the screening of alpha-thalassemia].

Dell'Edera D, Malvasi A, Tinelli A, Mazzone E, Leo M, Monti V, Epifania AA. Dell'Edera D, et al. Recenti Prog Med. 2011 Jul-Aug;102(7-8):302-6. doi: 10.1701/913.10050. Recenti Prog Med. 2011. PMID: 21779123 Italian.

10

Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.

Dell'edera D, Epifania AA, Tinelli A, Leo M, Novelli A, Di Trani A, Barrano G, Bertoli M, Mazzone E, Benedetto M, Simona D, Malvasi A. Dell'edera D, et al. Mol Med Rep. 2012 Jun;5(6):1521-5. doi: 10.3892/mmr.2012.830. Epub 2012 Mar 8. Mol Med Rep. 2012. PMID: 22407023

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

41 results

Search Page

Filters