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Items: 1 to 50 of 162

1.

Central adrenal insufficiency in children and adolescents.

Patti G, Guzzeti C, Di Iorgi N, Maria Allegri AE, Napoli F, Loche S, Maghnie M.

Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):425-444. doi: 10.1016/j.beem.2018.03.012. Epub 2018 Apr 10. Review.

PMID:
30086867
2.

Preface.

Maghnie M, Loche S, Di Iorgi N.

Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):341. doi: 10.1016/j.beem.2018.06.009. Epub 2018 Jun 27. No abstract available.

PMID:
30086861
3.

Growth Hormone Deficiency in the Transition Age.

Loche S, Di Iorgi N, Patti G, Noli S, Giaccardi M, Olivieri I, Ibba A, Maghnie M.

Endocr Dev. 2018;33:46-56. doi: 10.1159/000487525. Epub 2018 Jun 8.

PMID:
29886481
4.

Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases.

Godano E, Morana G, Di Iorgi N, Pistorio A, Allegri AEM, Napoli F, Gastaldi R, Calcagno A, Patti G, Gallizia A, Notarnicola S, Giaccardi M, Noli S, Severino M, Tortora D, Rossi A, Maghnie M.

Eur J Endocrinol. 2018 Jun;178(6):613-622. doi: 10.1530/EJE-18-0094. Epub 2018 Apr 12.

PMID:
29650689
5.

Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome.

Patti G, Giaccardi M, Capra V, Napoli F, Cangemi G, Notarnicola S, Guzzetti S, Russo S, Maghnie M, Di Iorgi N.

J Clin Endocrinol Metab. 2018 Jun 1;103(6):2225-2233. doi: 10.1210/jc.2017-02589.

PMID:
29546330
6.

Short Stature Diagnosis and Referral.

Maghnie M, Labarta JI, Koledova E, Rohrer TR.

Front Endocrinol (Lausanne). 2018 Jan 11;8:374. doi: 10.3389/fendo.2017.00374. eCollection 2017.

7.

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V.

Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5.

PMID:
29314551
8.

T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.

Morana G, Alves CA, Tortora D, Finlay JL, Severino M, Nozza P, Ravegnani M, Pavanello M, Milanaccio C, Maghnie M, Rossi A, Garrè ML.

Neuroradiology. 2018 Jan;60(1):89-99. doi: 10.1007/s00234-017-1947-3. Epub 2017 Nov 11.

PMID:
29128947
9.

Individualised growth response optimisation (iGRO) tool: an accessible and easy-to-use growth prediction system to enable treatment optimisation for children treated with growth hormone.

Loftus J, Lindberg A, Aydin F, Gomez R, Maghnie M, Rooman R, Steinkamp H, Doerr H, Ranke M, Camacho-Hubner C.

J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1019-1026. doi: 10.1515/jpem-2017-0120. Review.

PMID:
28902629
10.

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism.

Eur J Endocrinol. 2018 Jan;178(1):23-32. doi: 10.1530/EJE-17-0065. Epub 2017 Sep 7.

PMID:
28882981
11.

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C, Salina A, Minuto N, Tallone R, Lugani F, Mascagni A, Mazza O, Cassanello M, Maghnie M, d'Annunzio G.

Acta Diabetol. 2017 Oct;54(10):913-923. doi: 10.1007/s00592-017-1021-y. Epub 2017 Jul 19.

PMID:
28726111
12.

PREVALENCE AND CORRELATES OF ADHERENCE IN CHILDREN AND ADOLESCENTS TREATED WITH GROWTH HORMONE: A MULTICENTER ITALIAN STUDY.

Bagnasco F, Di Iorgi N, Roveda A, Gallizia A, Haupt R, Maghnie M; Adherence Investigators Group * .

Endocr Pract. 2017 Aug;23(8):929-941. doi: 10.4158/EP171786.OR. Epub 2017 Jun 14.

PMID:
28614005
13.

Validation of the Italian Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

Quitmann J, Giammarco A, Maghnie M, Napoli F, Di Giovanni I, Carducci C, Mohn A, Bullinger M, Sommer R.

J Endocrinol Invest. 2017 Oct;40(10):1077-1084. doi: 10.1007/s40618-017-0667-1. Epub 2017 Apr 10.

PMID:
28397185
14.

Classical and non-classical causes of GH deficiency in the paediatric age.

Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M.

Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):705-736. doi: 10.1016/j.beem.2016.11.008. Epub 2016 Nov 24. Review.

PMID:
27974186
15.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.

PMID:
27820671
16.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I.

Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.

PMID:
27585961
17.

Bridging the gap: metabolic and endocrine care of patients during transition.

Hokken-Koelega A, van der Lely AJ, Hauffa B, Häusler G, Johannsson G, Maghnie M, Argente J, DeSchepper J, Gleeson H, Gregory JW, Höybye C, Keleştimur F, Luger A, Müller HL, Neggers S, Popovic-Brkic V, Porcu E, Sävendahl L, Shalet S, Spiliotis B, Tauber M.

Endocr Connect. 2016 Nov;5(6):R44-R54. Epub 2016 Nov 1. Review.

18.

Adherence in children with growth hormone deficiency treated with r-hGH and the easypod™ device.

Loche S, Salerno M, Garofalo P, Cardinale GM, Licenziati MR, Citro G, Caruso Nicoletti M, Cappa M, Longobardi S, Maghnie M, Perrone R.

J Endocrinol Invest. 2016 Dec;39(12):1419-1424. Epub 2016 Jul 12.

19.

Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study.

Cappa M, Iughetti L, Loche S, Maghnie M, Vottero A; GeNeSIS National Board on behalf of the GeNeSIS Italian Investigators.

J Endocrinol Invest. 2016 Jun;39(6):667-77. doi: 10.1007/s40618-015-0418-0. Epub 2015 Dec 28.

20.

Cut-off limits of the peak GH response to stimulation tests for the diagnosis of GH deficiency in children and adolescents: study in patients with organic GHD.

Guzzetti C, Ibba A, Pilia S, Beltrami N, Di Iorgi N, Rollo A, Fratangeli N, Radetti G, Zucchini S, Maghnie M, Cappa M, Loche S.

Eur J Endocrinol. 2016 Jul;175(1):41-7. doi: 10.1530/EJE-16-0105. Epub 2016 May 4.

21.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. No abstract available.

22.

Age- and sex-matched reference curves for serum collagen type I C-telopeptides and bone alkaline phosphatase in children and adolescents: An alternative multivariate statistical analysis approach.

Gennai I, Di Iorgi N, Reggiardo G, Gatti C, Bertelli E, Allegri AE, Barco S, Maghnie M, Tripodi G, Cangemi G.

Clin Biochem. 2016 Jul;49(10-11):802-7. doi: 10.1016/j.clinbiochem.2016.04.005. Epub 2016 Apr 14. No abstract available.

PMID:
27087512
23.

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Morcaldi G, Bellini T, Rossi C, Maghnie M, Boccardo F, Bonioli E, Bellini C.

Lymphology. 2015 Sep;48(3):121-7. Review.

PMID:
26939159
24.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.

25.

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L.

J Clin Endocrinol Metab. 2016 Mar;101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13.

PMID:
26760175
26.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.

Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.

27.

GH deficiency status combined with GH receptor polymorphism affects response to GH in children.

Valsesia A, Chatelain P, Stevens A, Peterkova VA, Belgorosky A, Maghnie M, Antoniazzi F, Koledova E, Wojcik J, Farmer P, Destenaves B, Clayton P; PREDICT Investigator group.

Eur J Endocrinol. 2015 Dec;173(6):777-89. doi: 10.1530/EJE-15-0474. Epub 2015 Sep 4.

28.

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J.

Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Review.

PMID:
26194704
29.

Management of diabetes insipidus and adipsia in the child.

Di Iorgi N, Morana G, Napoli F, Allegri AE, Rossi A, Maghnie M.

Best Pract Res Clin Endocrinol Metab. 2015 Jun;29(3):415-36. doi: 10.1016/j.beem.2015.04.013. Epub 2015 May 9. Review.

PMID:
26051300
30.

Pituitary stalk thickening on MRI: when is the best time to re-scan and how long should we continue re-scanning for?

Di Iorgi N, Morana G, Maghnie M.

Clin Endocrinol (Oxf). 2015 Oct;83(4):449-55. doi: 10.1111/cen.12769. Epub 2015 Apr 6.

PMID:
25759231
31.

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.

Perrotta S, Di Iorgi N, Ragione FD, Scianguetta S, Borriello A, Allegri AE, Ferraro M, Santoro C, Napoli F, Calcagno A, Giaccardi M, Cappa M, Salerno MC, Cozzolino D, Maghnie M.

Eur J Endocrinol. 2015 Apr;172(4):461-72. doi: 10.1530/EJE-14-0942.

32.

Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA.

Aimaretti G, Attanasio R, Cannavò S, Nicoletti MC, Castello R, Di Somma C, Garofalo P, Iughetti L, Loche S, Maghnie M, Mazzanti L, Saggese G, Salerno M, Tonini G, Toscano V, Zucchini S, Cappa M.

J Endocrinol Invest. 2015 Mar;38(3):377-82. doi: 10.1007/s40618-014-0201-7. Epub 2014 Nov 2.

PMID:
25362629
33.

Growth factors and metabolic markers in cord blood: relationship to birth weight and length.

Napoli F, Di Iorgi N, Bagnasco F, Cangemi G, D'Amico B, Boschetti M, Allegri AE, Bruzzone Ichim IA, Traggiai C, Allodi A, Polo Perucchin P, Ghezzi M, Noli S, Giaccardi M, Roviglione B, De Miglio L, Calcagno A, Lorini R, Maghnie M.

J Biol Regul Homeost Agents. 2014 Apr-Jun;28(2):237-49.

PMID:
25001656
34.

Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders.

Zucchini S, Iafusco D, Vannelli S, Rabbone I, Salzano G, Pozzobon G, Maghnie M, Cherubini V, Bizzarri C, Bonfanti R, D'Annunzio G, Lenzi L, Maggio MC, Marigliano M, Scaramuzza A, Tumini S, Iughetti L.

Horm Res Paediatr. 2014;82(1):53-8. doi: 10.1159/000360856. Epub 2014 Jun 11.

PMID:
24925520
35.

Midbrain-hindbrain involvement in septo-optic dysplasia.

Severino M, Allegri AE, Pistorio A, Roviglione B, Di Iorgi N, Maghnie M, Rossi A.

AJNR Am J Neuroradiol. 2014 Aug;35(8):1586-92. doi: 10.3174/ajnr.A3959. Epub 2014 Apr 24.

36.

Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.

Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M; Italian Study Group on Idiopathic Central Hypogonadism (ICH).

J Clin Endocrinol Metab. 2014 Mar;99(3):E458-63. doi: 10.1210/jc.2013-2431. Epub 2013 Nov 25.

37.

Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases.

Di Iorgi N, Allegri AE, Napoli F, Calcagno A, Calandra E, Fratangeli N, Vannati M, Rossi A, Bagnasco F, Haupt R, Maghnie M.

J Clin Endocrinol Metab. 2014 Apr;99(4):1264-72. doi: 10.1210/jc.2013-3724. Epub 2013 Nov 25.

PMID:
24276447
38.

Interactions among pro-inflammatory cytokines, IGF system and thyroid function in pre-pubertal obese subjects.

Street ME, Smerieri A, Montanini L, Predieri B, Iughetti L, Valenzise M, De Luca F, Vigone M, Weber G, Maghnie M, Bernasconi S.

J Biol Regul Homeost Agents. 2013 Jan-Mar;27(1):259-66.

PMID:
23489706
39.

Pituitary gland imaging and outcome.

Di Iorgi N, Morana G, Gallizia AL, Maghnie M.

Endocr Dev. 2012;23:16-29. doi: 10.1159/000341736. Epub 2012 Nov 23. Review.

PMID:
23182817
40.

Magnetic resonance imaging of CNS in 15,043 children with GH deficiency in KIGS (Pfizer International Growth Database).

Maghnie M, Lindberg A, Koltowska-Häggström M, Ranke MB.

Eur J Endocrinol. 2013 Jan 17;168(2):211-7. doi: 10.1530/EJE-12-0801. Print 2013 Feb.

41.

Plasma total adiponectin levels in pediatrics: reference intervals calculated as a continuous variable of age.

Cangemi G, Di Iorgi N, Barco S, Reggiardo G, Maghnie M, Melioli G.

Clin Biochem. 2012 Dec;45(18):1703-5. doi: 10.1016/j.clinbiochem.2012.08.001. Epub 2012 Aug 10.

PMID:
22906828
42.

Serum insulin-like growth factor-I (IGF-I) reference ranges for chemiluminescence assay in childhood and adolescence. Data from a population of in- and out-patients.

Bedogni G, Giannone G, Maghnie M, Giacomozzi C, Di Iorgi N, Pedicelli S, Peschiaroli E, Melioli G, Muraca M, Cappa M, Cianfarani S.

Growth Horm IGF Res. 2012 Jun-Aug;22(3-4):134-8. doi: 10.1016/j.ghir.2012.04.005. Epub 2012 May 14.

PMID:
22583946
43.

Diabetes insipidus--diagnosis and management.

Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M.

Horm Res Paediatr. 2012;77(2):69-84. doi: 10.1159/000336333. Epub 2012 Mar 16. Review.

44.

Growth hormone and treatment outcomes: expert review of current clinical practice.

Cassorla F, Cianfarani S, Haverkamp F, Labarta JI, Loche S, Luo X, Maghnie M, Mericq V, Muzsnai A, Norgren S, Ojaniemi M, Pribilincova Z, Quinteiro S, Savendahl L, Spinola e Castro A, Gasteyger C.

Pediatr Endocrinol Rev. 2011 Dec;9(2):554-65. Review.

PMID:
22397140
45.

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O.

Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29.

46.

A longitudinal PRINTO study on growth and puberty in juvenile systemic lupus erythematosus.

Rygg M, Pistorio A, Ravelli A, Maghnie M, Di Iorgi N, Bader-Meunier B, Da Silva C, Roldan-Molina R, Barash J, Dracou C, Laloum SG, Jarosova K, Deslandre CJ, Koné-Paut I, Garofalo F, Press J, Sengler C, Tauber T, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO).

Ann Rheum Dis. 2012 Apr;71(4):511-7. doi: 10.1136/annrheumdis-2011-200106. Epub 2011 Oct 13.

PMID:
21998114
47.

The use of neuroimaging for assessing disorders of pituitary development.

Di Iorgi N, Allegri AE, Napoli F, Bertelli E, Olivieri I, Rossi A, Maghnie M.

Clin Endocrinol (Oxf). 2012 Feb;76(2):161-76. doi: 10.1111/j.1365-2265.2011.04238.x. Review. Erratum in: Clin Endocrinol (Oxf). 2012 Apr;76(4):607. Iorgi, Natascia D [corrected to Di Iorgi, Natascia].

PMID:
21955099
48.

Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia.

Secco A, Allegri AE, di Iorgi N, Napoli F, Calcagno A, Bertelli E, Olivieri I, Pala G, Parodi S, Gastaldi R, Rossi A, Maghnie M.

Eur J Endocrinol. 2011 Sep;165(3):411-20. doi: 10.1530/EJE-11-0437. Epub 2011 Jul 12.

49.

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.

Ghizzoni L, Cappa M, Vottero A, Ubertini G, Carta D, Di Iorgi N, Gasco V, Marchesi M, Raggi V, Ibba A, Napoli F, Massimi A, Maghnie M, Loche S, Porzio O.

Eur J Endocrinol. 2011 Aug;165(2):307-14. doi: 10.1530/EJE-11-0119. Epub 2011 Jun 6.

50.

Pediatric neuroendocrinology. Preface.

Loche S, Cappa M, Ghizzoni L, Maghnie M, Savage MO.

Endocr Dev. 2010;17:VII. No abstract available.

PMID:
20806809

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