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Items: 19

1.

Good overall behavioural adjustment in children and adolescents with classic congenital adrenal hyperplasia.

Messina V, Hirvikoski T, Karlsson L, Vissani S, Wallensteen L, Ortolano R, Balsamo A, Nordenström A, Lajic S.

Endocrine. 2020 Mar 9. doi: 10.1007/s12020-020-02244-1. [Epub ahead of print]

PMID:
32152914
2.

46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.

Baronio F, Ortolano R, Menabò S, Cassio A, Baldazzi L, Di Natale V, Tonti G, Vestrucci B, Balsamo A.

Int J Mol Sci. 2019 Sep 17;20(18). pii: E4605. doi: 10.3390/ijms20184605. Review.

3.

Carnitine longitudinal pattern in preterm infants <1800 g body weight: a case-control study.

Baronio F, Righi B, Righetti F, Bettocchi I, Ortolano R, Faldella G, Rondelli R, Pession A, Cassio A.

Pediatr Res. 2019 Nov;86(5):646-650. doi: 10.1038/s41390-019-0497-2. Epub 2019 Jul 10.

PMID:
31291643
4.

Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?

Medda E, Vigone MC, Cassio A, Calaciura F, Costa P, Weber G, de Filippis T, Gelmini G, Di Frenna M, Caiulo S, Ortolano R, Rotondi D, Bartolucci M, Gelsomino R, De Angelis S, Gabbianelli M, Persani L, Olivieri A.

J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900.

PMID:
31287502
5.

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis".

Ljubicic ML, Jørgensen A, Ribeiro de Andrade JG, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Dec 1;104(12):5812-5813. doi: 10.1210/jc.2019-01413. No abstract available.

PMID:
31276168
6.

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.

Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4366-4381. doi: 10.1210/jc.2018-02752.

PMID:
31127831
7.

The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Kapuria D, Ben-Yakov G, Ortolano R, Cho MH, Kalchiem-Dekel O, Takyar V, Lingala S, Gara N, Tana M, Kim YJ, Kleiner DE, Young NS, Townsley DM, Koh C, Heller T.

Hepatology. 2019 Jun;69(6):2579-2585. doi: 10.1002/hep.30578. Epub 2019 Apr 10.

PMID:
30791107
8.

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.

Rocca MS, Ortolano R, Menabò S, Baronio F, Cassio A, Russo G, Balsamo A, Ferlin A, Baldazzi L.

Fertil Steril. 2018 Jun;109(6):1105-1113. doi: 10.1016/j.fertnstert.2018.02.123.

PMID:
29935645
9.

Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood.

Fanelli F, Baronio F, Ortolano R, Mezzullo M, Cassio A, Pagotto U, Balsamo A.

Sex Dev. 2018;12(1-3):50-94. doi: 10.1159/000486840. Epub 2018 Feb 14.

PMID:
29439271
10.

A Case of Congenital Dyserythropoeitic Anemia Type IV Caused by E325K Mutation in Erythroid Transcription Factor KLF1.

Ortolano R, Forouhar M, Warwick A, Harper D.

J Pediatr Hematol Oncol. 2018 Aug;40(6):e389-e391. doi: 10.1097/MPH.0000000000001042.

PMID:
29200155
11.

A genetic epidemiology study of congenital adrenal hyperplasia in Italy.

Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G.

Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17.

PMID:
28644547
12.

Letter to the Editors: Concerning "Divergent clinical outcomes of alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi M et al.

Ortolano R, Baronio F, Masetti R, Prete A, Cassio A, Pession A.

Mol Genet Metab Rep. 2017 Mar 7;11:1. doi: 10.1016/j.ymgmr.2017.02.003. eCollection 2017 Jun. No abstract available.

13.

Daptomycin for Children in Clinical Practice Experience.

Garazzino S, Castagnola E, Di Gangi M, Ortolano R, Krzysztofiak A, Nocerino A, Esposito S, D'Argenio P, Galli L, Losurdo G, Calitri C, Tovo PA; SITIP Daptomycin Study Group.

Pediatr Infect Dis J. 2016 Jun;35(6):639-41. doi: 10.1097/INF.0000000000001121.

PMID:
26910590
14.

The inconspicuous penis in children.

Cimador M, Catalano P, Ortolano R, Giuffrè M.

Nat Rev Urol. 2015 Apr;12(4):205-15. doi: 10.1038/nrurol.2015.49. Epub 2015 Apr 7. Review.

PMID:
25850928
15.

Methicillin-resistant Staphylococcus aureus nasal colonization in a level III neonatal intensive care unit: Incidence and risk factors.

Giuffrè M, Amodio E, Bonura C, Geraci DM, Saporito L, Ortolano R, Corsello G, Mammina C.

Am J Infect Control. 2015 May 1;43(5):476-81. doi: 10.1016/j.ajic.2014.12.027. Epub 2015 Feb 25.

PMID:
25726131
16.

Predictive factors of abdominal compartment syndrome in neonatal age.

Schierz IA, Giuffrè M, Piro E, Ortolano R, Siracusa F, Pinello G, La Placa S, Corsello G.

Am J Perinatol. 2014 Jan;31(1):49-54. doi: 10.1055/s-0033-1334447. Epub 2013 Mar 1.

PMID:
23456905
17.

Knuckle cracking and hand osteoarthritis.

Deweber K, Olszewski M, Ortolano R.

J Am Board Fam Med. 2011 Mar-Apr;24(2):169-74. doi: 10.3122/jabfm.2011.02.100156.

18.

Upper body aerobic fitness comparison between two groups of competitive surfboard riders.

Méndez-Villanueva A, Perez-Landaluce J, Bishop D, Fernandez-García B, Ortolano R, Leibar X, Terrados N.

J Sci Med Sport. 2005 Mar;8(1):43-51.

PMID:
15887900
19.

Genetic variation in the renin-angiotensin system and athletic performance.

Alvarez R, Terrados N, Ortolano R, Iglesias-Cubero G, Reguero JR, Batalla A, Cortina A, Fernández-García B, Rodríguez C, Braga S, Alvarez V, Coto E.

Eur J Appl Physiol. 2000 May;82(1-2):117-20.

PMID:
10879452

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