DE SANCTIS, Luisa

DE SANCTIS, Luisa  

SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE  

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Titolo Data di pubblicazione Autore(i) File
"Lymphocyte population in peripheral blood in children and adolescents with graves disease. Potential predictive tool for severity of the disease" 2022 Tuli, Gerdi; Munarin, Jessica; Mazzucco, Beatrice; Matarazzo, Patrizia; de Sanctis, Luisa
"primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature" 2021 Tuli G.; Munarin J.; Tessaris D.; Buganza R.; Matarazzo P.; De Sanctis L.
2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance 2019 Elli F.M.; de Sanctis L.; Madeo B.; Maffini M.A.; Bordogna P.; Pirelli A.; Arosio M.; Mantovani G.
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 1999 Smooker PM; Gough TJ; Cotton RG; Alliaudi C; de Sanctis L; Dianzani I.
Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches. 2001 Corrias A; Einaudi S; Chiorboli E; Weber G; Crinò A; Andreo M; Cesaretti G; de Sanctis L; Messina MF; Segni M; Cicchetti M; Vigone M; Pasquino AM; Spera S; de Luca F; Mussa GC; Bona G.
Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development 2023 Abrigo, Enrica; Munarin, Jessica; Bondone, Claudia; Tuli, Gerdi; Castagno, Emanuele; de Sanctis, Luisa; Matarazzo, Patrizia
Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome 2015 Messina, Maria Francesca; Aversa, Tommaso; DE SANCTIS, Luisa; Wasniewska, Malgorzata; Valenzise, Mariella; Pajno, Giovanni Battista; De Luca, Filippo; Lombardo, Fortunato
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. 2005 Di Cesare Merlone A; Bozzola E; Castelnovi C; Chiabotto P; Costante L; De Sanctis L; Tinelli C; Bozzola M.
Albright hereditary osteodystrphy and pseudohypoparathyroidism: three new mutation and common deletion in GNAS1. 2000 De Sanctis L; Romagnolo De Sanctis C; Lala R; Olivero M; Di Renzo MF; Dianzani I.
Alterazioni della proteina Gs alfa, manifestazioni cliniche ed aspetti genetici 2004 De Sanctis L; Lala R; Matarazzo P; Andreo R; De Sanctis C.
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry 2022 Lawrence, Neil; Bacila, Irina; Dawson, Jeremy; Bryce, Jillian; Ali, Salma R; van den Akker, Erica L T; Bachega, Tânia A S S; Baronio, Federico; Birkebaek, Niels H; Bonfig, Walter; van der Grinten, Hedi C; Costa, Eduardo C; de Vries, Liat; Elsedfy, Heba; Güven, Ayla; Hannema, Sabine; Iotova, Violeta; van der Kamp, Hetty J; Clemente, María; Lichiardopol, Corina R; Milenkovic, Tatjana; Neumann, Uta; Nordenström, Ana; Poyrazoğlu, Şukran; Probst-Scheidegger, Ursina; De Sanctis, Luisa; Tadokoro-Cuccaro, Rieko; Thankamony, Ajay; Vieites, Ana; Yavaş, Zehra; Faisal Ahmed, Syed; Krone, Nils
Anoftalmia bilaterale: identificazione di una nuova mutazione causale nel gene SOX2 2004 L. de Sanctis; U. de Sanctis; L. Tornetta; P. Stroppiana; F. Cresi; G. Borgarello; E. Coppo; G. Agosta; G. Agriesti; L. Silvestro
Appropriate management of growth hormone deficiency during the age of transition: an Italian Delphi consensus statement 2022 Cannavò S; Cappa M; Ferone D; Isidori AM; Loche S; Salerno M; Maghnie M; Aimaretti G; Ambrosio MR; Bellone S; Caruso M; Castello R; Ceccato F; Cerbone T; Cherubini V; de Carlo E; De Sanctis L; della Casa S; Di Somma C; Faienza MF; Gasco V; Gaudino R; Giacomozzi C; Giavoli C; Guazzarotti L; Klain A; Lania A; Leonardi D; Longhi S; Lughetti L; Maggio MC; Wasniewska GM; Mameli C; Mauro C; Miraglia Del Giudice E; Palermo MCA; Parpagnoli M; Persani L; Pilotta A; Pozzobon G; Rochira V; Rota F; Sacco M; Scarcella S; Scavuzzo F; Sinisi AA; Street ME; Tornese G
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3 2019 Elli F.M.; Desanctis L.; Maffini M.A.; Bordogna P.; Tessaris D.; Pirelli A.; Arosio M.; Linglart A.; Mantovani G.
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients 2021 Garelli S.; Dalla Costa M.; Sabbadin C.; Barollo S.; Rubin B.; Scarpa R.; Masiero S.; Fierabracci A.; Bizzarri C.; Crino A.; Cappa M.; Valenzise M.; Meloni A.; De Bellis A.M.; Giordano C.; Presotto F.; Perniola R.; Capalbo D.; Salerno M.C.; Stigliano A.; Radetti G.; Camozzi V.; Greggio N.A.; Bogazzi F.; Chiodini I.; Pagotto U.; Black S.K.; Chen S.; Rees Smith B.; Furmaniak J.; Weber G.; Pigliaru F.; De Sanctis L.; Scaroni C.; Betterle C.
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy in two siblings: Same mutations but very different phenotypes 2021 Carpino A.; Buganza R.; Matarazzo P.; Tuli G.; Pinon M.; Calvo P.L.; Montin D.; Licciardi F.; De Sanctis L.
Autosomal Dominant Pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR. 2014 Elli FM; De Sanctis L; Peverelli E; Bordogna P; Pivetta B; Miolo G; Beck-Peccoz P; Spada A; Mantovani G.
Biological clock and heredity in pubertal timing: what is new? 2021 Barbieri F.; Ingaghi E.; Nicoletti M.C.; Cassio A.; Grandone A.; de Sanctis L.; Bizzarri C.
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients 2004 de Sanctis L; Vai S; Andreo MR; Romagnolo D; Silvestro L; de Sanctis C.
Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition 2008 de Sanctis L; Russo MC; Marinaccio C; Einaudi S; Agosta G; Coppo E; Boffi P; Silvestro L