Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.

Cudini, Annamaria; Nardella, Caterina; Bellacchio, Emanuele; Palma, Alessia; Delfino, Domenico Vittorio; Betterle, Corrado; Cappa, Marco; Fierabracci, Alessandra.

Int J Mol Sci ; 25(5)2024 Feb 24.

Artículo en Inglés | MEDLINE | ID: mdl-38473903

2.

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.

Hasenmajer, Valeria; Ferrigno, Rosario; Minnetti, Marianna; Pellegrini, Bianca; Isidori, Andrea M; Lenzi, Andrea; Salerno, Mariacarolina; Cappa, Marco; Chan, Li; De Martino, Maria Cristina; Savage, Martin O.

Rev Endocr Metab Disord ; 24(2): 345-363, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36763264

3.

Low Levels of Serum Total Vitamin B12 Are Associated with Worse Metabolic Phenotype in a Large Population of Children, Adolescents and Young Adults, from Underweight to Severe Obesity.

Aureli, Alessia; Recupero, Rosanna; Mariani, Michela; Manco, Melania; Carlomagno, Francesco; Bocchini, Sarah; Nicodemo, Mirella; Marchili, Maria Rosaria; Cianfarani, Stefano; Cappa, Marco; Fintini, Danilo.

Int J Mol Sci ; 24(23)2023 Nov 22.

Artículo en Inglés | MEDLINE | ID: mdl-38068910

4.

Insulin Clearance at the Pubertal Transition in Youth with Obesity and Steatosis Liver Disease.

Franceschi, Roberto; Fintini, Danilo; Ravà, Lucilla; Mariani, Michela; Aureli, Alessia; Inzaghi, Elena; Pedicelli, Stefania; Deodati, Annalisa; Bizzarri, Carla; Cappa, Marco; Cianfarani, Stefano; Manco, Melania.

Int J Mol Sci ; 24(19)2023 Oct 06.

Artículo en Inglés | MEDLINE | ID: mdl-37834412

5.

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Torraco, Alessandra; Morlino, Silvia; Rizza, Teresa; Di Nottia, Michela; Bottaro, Giorgia; Bisceglia, Luigi; Montanari, Arianna; Cappa, Marco; Castori, Marco; Bertini, Enrico; Carrozzo, Rosalba.

Clin Genet ; 102(1): 56-60, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35246835

6.

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.

Ziccardi, Lucia; Niceta, Marcello; Stellacci, Emilia; Ciolfi, Andrea; Tatti, Massimo; Bruselles, Alessandro; Mancini, Cecilia; Barbano, Lucilla; Cecchetti, Serena; Costanzo, Eliana; Cappa, Marco; Parravano, Mariacristina; Varano, Monica; Tartaglia, Marco; Cordeddu, Viviana.

Int J Mol Sci ; 23(23)2022 Nov 24.

Artículo en Inglés | MEDLINE | ID: mdl-36498982

7.

Early alterations of cortical thickness and gyrification in migraine without aura: a retrospective MRI study in pediatric patients.

Guarnera, Alessia; Bottino, Francesca; Napolitano, Antonio; Sforza, Giorgia; Cappa, Marco; Chioma, Laura; Pasquini, Luca; Rossi-Espagnet, Maria Camilla; Lucignani, Giulia; Figà-Talamanca, Lorenzo; Carducci, Chiara; Ruscitto, Claudia; Valeriani, Massimiliano; Longo, Daniela; Papetti, Laura.

J Headache Pain ; 22(1): 79, 2021 Jul 22.

Artículo en Inglés | MEDLINE | ID: mdl-34294048

8.

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Gnazzo, Maria; Lepri, Francesca R; Dentici, Maria Lisa; Capolino, Rossella; Pisaneschi, Elisa; Agolini, Emanuele; Rinelli, Martina; Alesi, Viola; Versacci, Paolo; Genovese, Silvia; Cesario, Claudia; Sinibaldi, Lorenzo; Baban, Anwar; Bartuli, Andrea; Marino, Bruno; Cappa, Marco; Dallapiccola, Bruno; Novelli, Antonio; Digilio, Maria Cristina.

Am J Med Genet A ; 182(5): 1073-1083, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32124548

9.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Niceta, Marcello; Dentici, Maria Lisa; Ciolfi, Andrea; Marini, Romana; Barresi, Sabina; Lepri, Francesca Romana; Novelli, Antonio; Bertini, Enrico; Cappa, Marco; Digilio, Maria Cristina; Dallapiccola, Bruno; Tartaglia, Marco.

BMC Pediatr ; 20(1): 120, 2020 03 12.

Artículo en Inglés | MEDLINE | ID: mdl-32164589

10.

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.

Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran; Fatima, Saleel; Alzahrani, Ali; Hafez, Mona; Musa, Noha; Razzghy Azar, Maryam; Khaloul, Najoua; Gribaa, Moez; Saad, Ali; Charfeddine, Ilhem Ben; Bilharinho de Mendonça, Berenice; Belgorosky, Alicia; Dumic, Katja; Dumic, Miroslav; Aisenberg, Javier; Kandemir, Nurgun; Alikasifoglu, Ayfer; Ozon, Alev; Gonc, Nazli; Cheng, Tina; Kuhnle-Krahl, Ursula; Cappa, Marco; Holterhus, Paul-Martin; Nour, Munier A; Pacaud, Daniele; Holtzman, Assaf; Li, Sun; Zaidi, Mone; Yuen, Tony; New, Maria I.

Proc Natl Acad Sci U S A ; 114(10): E1933-E1940, 2017 03 07.

Artículo en Inglés | MEDLINE | ID: mdl-28228528

11.

Exploiting novel tailored immunotherapies of type 1 diabetes: Short interfering RNA delivered by cationic liposomes enables efficient down-regulation of variant PTPN22 gene in T lymphocytes.

Pellegrino, Marsha; Ceccacci, Francesca; Petrini, Stefania; Scipioni, Anita; De Santis, Serena; Cappa, Marco; Mancini, Giovanna; Fierabracci, Alessandra.

Nanomedicine ; 18: 371-379, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30439564

12.

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Penta, Laura; Bizzarri, Carla; Panichi, Michela; Novelli, Antonio; Lepri, Francesca Romana; Cappa, Marco; Esposito, Susanna.

Int J Mol Sci ; 20(8)2019 Apr 16.

Artículo en Inglés | MEDLINE | ID: mdl-30988269

13.

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno.

Am J Hum Genet ; 96(2): 295-300, 2015 Feb 05.

Artículo en Inglés | MEDLINE | ID: mdl-25620207

14.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray, Jennie E; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A; Graham, Gail E; Ranza, Emmanuelle; Blundell, Tom L; Jackson, Andrew P; Stewart, Grant S; Bicknell, Louise S.

Am J Hum Genet ; 96(3): 412-24, 2015 Mar 05.

Artículo en Inglés | MEDLINE | ID: mdl-25728776

15.

Reliability of clonidine testing for the diagnosis of growth hormone deficiency in children and adolescents.

Ibba, Anastasia; Guzzetti, Chiara; Casula, Letizia; Salerno, Mariacarolina; Di Iorgi, Natascia; Allegri, Anna Maria Elsa; Cappa, Marco; Maghnie, Mohamad; Loche, Sandro.

Clin Endocrinol (Oxf) ; 89(6): 765-770, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30171702

16.

Relationship between non-alcoholic steatohepatitis, PNPLA3 I148M genotype and bone mineral density in adolescents.

Mosca, Antonella; Fintini, Danilo; Scorletti, Elenora; Cappa, Marco; Paone, Laura; Zicari, Anna M; Nobili, Valerio; Byrne, Christopher D.

Liver Int ; 38(12): 2301-2308, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30176114

17.

Use of testosterone gel compared to intramuscular formulation for puberty induction in males with constitutional delay of growth and puberty: a preliminary study.

Chioma, Laura; Papucci, Giulia; Fintini, Danilo; Cappa, Marco.

J Endocrinol Invest ; 41(2): 259-263, 2018 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-28695484

18.

Low Birthweight Increases the Likelihood of Severe Steatosis in Pediatric Non-Alcoholic Fatty Liver Disease.

Bugianesi, Elisabetta; Bizzarri, Carla; Rosso, Chiara; Mosca, Antonella; Panera, Nadia; Veraldi, Silvio; Dotta, Andrea; Giannone, Germana; Raponi, Massimiliano; Cappa, Marco; Alisi, Anna; Nobili, Valerio.

Am J Gastroenterol ; 112(8): 1277-1286, 2017 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-28555633

19.

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

Cambiaso, Paola; Galassi, Stefania; Palmiero, Melania; Mastronuzzi, Angela; Del Bufalo, Francesca; Capolino, Rossella; Cacchione, Antonella; Buonuomo, Paola S; Gonfiantini, Michaela V; Bartuli, Andrea; Cappa, Marco; Macchiaiolo, Marina.

Am J Med Genet A ; 173(9): 2353-2358, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-28631895

20.

SLEEPING CUPID BY CARAVAGGIO: WHAT DIAGNOSIS?

Pozzilli, Paolo; Cappa, Marco.

Endocr Pract ; 23(7): 881-884, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28448761

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