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A Meloni

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Articles 54
Citations 671
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Recent Articles
1.
Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, et al.
J Endocrinol Invest . 2021 May; 44(11):2493-2510. PMID: 34003463
Background: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC),...
2.
Vezzoli V, Duminuco P, Pogliaghi G, Saccone M, Cangiano B, Rosatelli M, et al.
J Endocrinol Invest . 2020 Jan; 43(7):973-982. PMID: 31939195
Purpose: The triple A syndrome (AAAS) is an inherited condition associated with mutations in the AAAS gene, which encodes a protein of 546 amino acids known as ALADIN (alacrima achalasia...
3.
Santarone S, Pepe A, Meloni A, Natale A, Pistoia L, Olioso P, et al.
Bone Marrow Transplant . 2017 Oct; 53(1):39-43. PMID: 28991245
Hematopoietic cell transplant (HCT) recipients have a substantial risk of developing secondary solid cancers (SSCs). The aim of this retrospective study was to compare the incidence of SSC in a...
4.
Gialluisi A, Menabo S, Baldazzi L, Casula L, Meloni A, Farci M, et al.
Clin Genet . 2017 Jun; 93(2):223-227. PMID: 28644547
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum...
5.
Floridia M, Masuelli G, Meloni A, Cetin I, Tamburrini E, Cavaliere A, et al.
BJOG . 2016 Jun; 124(8):1218-1223. PMID: 27319948
Objectives: To assess in pregnant women with HIV the rates of amniocentesis and chorionic villus sampling (CVS), and the outcomes associated with such procedures. Design: Observational study. Data from the...
6.
Wolff A, Sarkadi A, Marodi L, Karner J, Orlova E, Oftedal B, et al.
J Clin Immunol . 2013 Oct; 33(8):1341-8. PMID: 24158785
Purpose: Almost all patients with autoimmune polyendocrine syndrome (APS)-I have high titer neutralizing autoantibodies to type I interferons (IFN), especially IFN-ω and IFN-α2, whatever their clinical features and onset-ages. About...
7.
Pontis A, Piras B, Meloni A, De Lisa A, Melis G, Angioni S
J Obstet Gynaecol . 2013 Aug; 33(6):628-9. PMID: 23919867
No abstract available.
8.
Ozisik Y, Meloni A, Sandberg A
Int J Oncol . 2011 May; 1(5):533-7. PMID: 21584576
Chromosomal abnormalities can be applied in the diagnosis and classification of some metastases of unknown origin. A selective search is most appropriate for treatable tumors, such as prostate, ovary, breast,...
9.
Smith C, Oscarson M, Ronnblom L, Alimohammadi M, Perheentupa J, Husebye E, et al.
Scand J Immunol . 2011 Jan; 73(2):147-53. PMID: 21198756
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High-titre autoantibodies are a characteristic feature of APS1 and...
10.
Asunis I, Marini M, Porcu L, Meloni A, Cabriolu A, Cao A, et al.
Exp Clin Endocrinol Diabetes . 2010 Feb; 118(3):177-9. PMID: 20146166
A 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene...