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X-linked hypophosphatemic rickets: an Italian experts' opinion survey.

Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D'Ausilio A, Lanati EP.

Ital J Pediatr. 2019 May 31;45(1):67. doi: 10.1186/s13052-019-0654-6.


Plasma cortisol and ACTH levels in 416 VLBW preterm infants during the first month of life: distribution in the AGA/SGA population.

Mori A, Tuli G, Magaldi R, Ghirri P, Tessaris D, Rinaldi M, Bagnoli F, de Sanctis L.

J Perinatol. 2019 Jul;39(7):934-940. doi: 10.1038/s41372-019-0381-2. Epub 2019 May 8.


Polysomnographic findings in Rett syndrome.

Amaddeo A, De Sanctis L, Arroyo JO, Khirani S, Bahi-Buisson N, Fauroux B.

Eur J Paediatr Neurol. 2019 Jan;23(1):214-221. doi: 10.1016/j.ejpn.2018.09.003. Epub 2018 Sep 12.


Parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing.

Sidhoum L, Amaddeo A, Arroyo JO, De Sanctis L, Khirani S, Fauroux B.

Sleep Breath. 2019 Mar;23(1):327-332. doi: 10.1007/s11325-018-1710-y. Epub 2018 Sep 5.


Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.


Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, Pereda A, Rothenbuhler A, Tessaris D, Thiele S, Usardi A, Shoemaker AH, Kottler ML, Jüppner H, Mantovani G, Linglart A.

J Bone Miner Res. 2018 Aug;33(8):1480-1488. doi: 10.1002/jbmr.3450. Epub 2018 Jun 7.


Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome.

Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, De Sanctis L, Collins MT.

Clin Endocrinol (Oxf). 2018 Jul;89(1):56-64. doi: 10.1111/cen.13722. Epub 2018 May 17.


Parents of children referred to a sleep laboratory for disordered breathing reported anxiety, daytime sleepiness and poor sleep quality.

Cadart M, De Sanctis L, Khirani S, Amaddeo A, Ouss L, Fauroux B.

Acta Paediatr. 2018 Jul;107(7):1253-1261. doi: 10.1111/apa.14353. Epub 2018 Apr 26.


Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age.

Tuli G, Tessaris D, Einaudi S, Matarazzo P, De Sanctis L.

Clin Endocrinol (Oxf). 2018 Jun;88(6):873-879. doi: 10.1111/cen.13583. Epub 2018 Mar 15.


Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

Moia S, Tessaris D, Einaudi S, de Sanctis L, Bona G, Bellone S, Prodam F.

Ital J Pediatr. 2017 Oct 12;43(1):94. doi: 10.1186/s13052-017-0411-7. Review.


Can the analysis of built-in software of CPAP devices replace polygraphy in children?

Khirani S, Delord V, Olmo Arroyo J, De Sanctis L, Frapin A, Amaddeo A, Fauroux B.

Sleep Med. 2017 Sep;37:46-53. doi: 10.1016/j.sleep.2017.05.019. Epub 2017 Jun 24.


A comparison of pulse oximetry and cerebral oxygenation in children with severe sleep apnea-hypopnea syndrome: a pilot study.

Olmo Arroyo J, Khirani S, Amaddeo A, Griffon L, De Sanctis L, Pouard P, Fauroux B.

J Sleep Res. 2017 Dec;26(6):799-808. doi: 10.1111/jsr.12561. Epub 2017 May 31.


Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.

Dudoignon B, Amaddeo A, Frapin A, Thierry B, de Sanctis L, Arroyo JO, Khirani S, Fauroux B.

Am J Med Genet A. 2017 Aug;173(8):2074-2080. doi: 10.1002/ajmg.a.38283. Epub 2017 May 24.


Tolvaptan Treatment in Children with Chronic Hyponatremia due to Inappropriate Antidiuretic Hormone Secretion: A Report of Three Cases

Tuli G, Tessaris D, Einaudi S, De Sanctis L, Matarazzo P.

J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):288-292. doi: 10.4274/jcrpe.4531. Epub 2017 May 17. Review.


Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome

de Sanctis L, Galliano I, Montanari P, Matarazzo P, Tessaris D, Bergallo M.

Horm Res Paediatr. 2017;87(5):342-349. doi: 10.1159/000463384. Epub 2017 Mar 23.


Sleep-disordered breathing and its management in children with achondroplasia.

Tenconi R, Khirani S, Amaddeo A, Michot C, Baujat G, Couloigner V, De Sanctis L, James S, Zerah M, Cormier-Daire V, Fauroux B.

Am J Med Genet A. 2017 Apr;173(4):868-878. doi: 10.1002/ajmg.a.38130. Epub 2017 Feb 27.


Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

de Sanctis L, Giachero F, Mantovani G, Weber G, Salerno M, Baroncelli GI, Elli MF, Matarazzo P, Wasniewska M, Mazzanti L, Scirè G, Tessaris D; Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED).

Ital J Pediatr. 2016 Nov 21;42(1):101.


[Obesity and obstructive sleep apnea in children].

Amaddeo A, de Sanctis L, Olmo Arroyo J, Giordanella JP, Monteyrol PJ, Fauroux B.

Arch Pediatr. 2017 Feb;24 Suppl 1:S34-S38. doi: 10.1016/j.arcped.2016.09.003. Epub 2016 Oct 18. Review. French.


The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G.

J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. Epub 2016 Jul 18.


From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A.

Eur J Endocrinol. 2016 Dec;175(6):P1-P17. Epub 2016 Jul 11. Review.


Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU.

Griffon L, Amaddeo A, Mortamet G, Barnerias C, Abadie V, Olmo Arroyo J, de Sanctis L, Renolleau S, Fauroux B.

J Crit Care. 2017 Dec;42:317-323. doi: 10.1016/j.jcrc.2016.04.003. Epub 2016 Apr 14.


Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Elli FM, Bordogna P, de Sanctis L, Giachero F, Verrua E, Segni M, Mazzanti L, Boldrin V, Toromanovic A, Spada A, Mantovani G.

J Bone Miner Res. 2016 Jun;31(6):1215-24. doi: 10.1002/jbmr.2785. Epub 2016 Feb 9.


Bortezomib-based therapy combined with high cut-off hemodialysis is highly effective in newly diagnosed multiple myeloma patients with severe renal impairment.

Zannetti BA, Zamagni E, Santostefano M, De Sanctis LB, Tacchetti P, Mancini E, Pantani L, Brioli A, Rizzo R, Mancuso K, Rocchi S, Pezzi A, Borsi E, Terragna C, Marzocchi G, Santoro A, Cavo M.

Am J Hematol. 2015 Jul;90(7):647-52. doi: 10.1002/ajh.24035.


Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.

Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G.

J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16.


Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome.

Messina MF, Aversa T, de Sanctis L, Wasniewska M, Valenzise M, Pajno GB, De Luca F, Lombardo F.

Hormones (Athens). 2015 Apr-Jun;14(2):286-92. doi: 10.14310/horm.2002.1515.


3D FIESTA pulse sequence for assessing renal artery stenosis: is it a reliable application in unenhanced magnetic resonance angiography?

Gaudiano C, Busato F, Ferramosca E, Cecchelli C, Corcioni B, De Sanctis LB, Santoro A, Golfieri R.

Eur Radiol. 2014 Dec;24(12):3042-50. doi: 10.1007/s00330-014-3330-7. Epub 2014 Jul 25.


Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

Elli FM, de Sanctis L, Peverelli E, Bordogna P, Pivetta B, Miolo G, Beck-Peccoz P, Spada A, Mantovani G.

J Clin Endocrinol Metab. 2014 Apr;99(4):E724-8. doi: 10.1210/jc.2013-3704. Epub 2014 Jan 17.


Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.

Elli FM, de Sanctis L, Bollati V, Tarantini L, Filopanti M, Barbieri AM, Peverelli E, Beck-Peccoz P, Spada A, Mantovani G.

J Clin Endocrinol Metab. 2014 Mar;99(3):E508-17. doi: 10.1210/jc.2013-3086. Epub 2013 Jan 1.


Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism.

Feyles F, Mussa A, Peiretti V, Tessaris D, Santanera A, Corrias A, de Sanctis L, Calvo L.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):149-52. doi: 10.1515/jpem-2013-0160.


Pregnancy outcome after loop electrosurgical excision procedure for cervical intraepithelial neoplasia.

Frega A, Sesti F, De Sanctis L, Pacchiarotti A, Votano S, Biamonti A, Sopracordevole F, Scirpa P, Catalano A, Caserta D, Gentile M, Schimberni M, Moscarini M.

Int J Gynaecol Obstet. 2013 Aug;122(2):145-9. doi: 10.1016/j.ijgo.2013.03.013. Epub 2013 May 21.


Thyroid abnormalities in children and adolescents with McCune-Albright syndrome.

Tessaris D, Corrias A, Matarazzo P, De Sanctis L, Wasniewska M, Messina MF, Vigone MC, Lala R.

Horm Res Paediatr. 2012;78(3):151-7. doi: 10.1159/000342641. Epub 2012 Sep 20.


An unusual cardiac manifestation in autosomal dominant polycystic kidney disease.

Catapano F, Pancaldi S, Pace Napoleone C, De Sanctis LB, Gargiulo G, Emiliani G, Santoro A.

Case Rep Nephrol. 2012;2012:978170. doi: 10.1155/2012/978170. Epub 2012 Nov 22.


[Management of IgA nephropathy].

Amoroso L, De Sanctis L, Cappelli P, Di Vito R, Sirolli V, Bonomini M.

G Ital Nefrol. 2011 Nov-Dec;28(6):622-32. Review. Italian.


Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem.

de Sanctis L, Memo L, Pichini S, Tarani L, Vagnarelli F.

J Matern Fetal Neonatal Med. 2011 Oct;24 Suppl 1:34-7. doi: 10.3109/14767058.2011.607576. Review.


The re-infection rate of high-risk HPV and the recurrence rate of vulvar intraepithelial neoplasia (VIN) usual type after surgical treatment.

Frega A, Sopracordevole F, Scirpa P, Biamonti A, Lorenzon L, Scarani S, De Sanctis L, Pacchiarotti A, Moscarini M, French D.

Med Sci Monit. 2011 Sep;17(9):CR532-5.


Impact of human papillomavirus infection on the neovaginal and vulval tissues of women who underwent surgical treatment for Mayer-Rokitansky-Kuster-Hauser syndrome.

Frega A, Scirpa P, Sopracordevole F, Biamonti A, Bianchi P, De Sanctis L, Lorenzon L, Pacchiarotti A, French D, Moscarini M.

Fertil Steril. 2011 Oct;96(4):969-73. doi: 10.1016/j.fertnstert.2011.07.1099. Epub 2011 Aug 5.


Prognostic implication of high risk human papillomavirus E6 and E7 mRNA in patients with intraepithelial lesions of the cervix in relationship to age.

Frega A, Lorenzon L, Giovagnoli MR, De Sanctis L, Fabiano V, Lukic A, Moscarini M, Torrisi MR, French D.

Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2):461-70.


Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O.

Hum Mutat. 2011 Jun;32(6):653-60. doi: 10.1002/humu.21489. Epub 2011 Apr 12.


Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.

Mussa A, Ferrero GB, Ceoloni B, Basso E, Chiesa N, De Crescenzo A, Pepe E, Silengo M, de Sanctis L.

Eur J Pediatr. 2011 Nov;170(11):1407-11. doi: 10.1007/s00431-011-1455-0. Epub 2011 Mar 30.


Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.

Giuffrè M, De Sanctis L.

Minerva Pediatr. 2010 Jun;62(3 Suppl 1):199-201. Review.


Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.

De Sanctis L, Giuffrè M.

Minerva Pediatr. 2010 Jun;62(3 Suppl 1):193-5. Review.


Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.

Ferrara AM, Rossi G, Zampella E, Di Candia S, Pagliara V, Nettore IC, Capalbo D, De Sanctis L, Baserga M, Salerno MC, Fenzi G, Macchia PE.

J Endocrinol Invest. 2011 Jul-Aug;34(7):e149-52. doi: 10.3275/7331. Epub 2010 Nov 8.


[Renal involvement in monoclonal gammopathy and multiple myeloma].

De Sanctis LB, Sestigiani E, Sgarlato V, Fabbrizio B, Santoro A.

G Ital Nefrol. 2010 Sep-Oct;27 Suppl 50:S19-33. Italian.


Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.

Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, Maghnie M, Ghizzoni L, de Sanctis L, Lania AG, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. doi: 10.1210/jc.2010-1649. Epub 2010 Aug 18.


Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.

Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A.

J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. doi: 10.1210/jc.2009-0176. Epub 2010 Jan 8.


Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis.

Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE.

J Endocrinol Invest. 2009 Mar;32(3):238-41.


Effects of noise and confidence thresholds in nominal and metric Axelrod dynamics of social influence.

De Sanctis L, Galla T.

Phys Rev E Stat Nonlin Soft Matter Phys. 2009 Apr;79(4 Pt 2):046108. Epub 2009 Apr 21.


Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up.

De Luca F, Mitchell V, Wasniewska M, Arrigo T, Messina MF, Valenzise M, de Sanctis L, Lahlou N.

Eur J Endocrinol. 2008 Jun;158(6):921-7. doi: 10.1530/EJE-07-0494.


GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.

de Sanctis L, Bellone J, Salerno M, Faleschini E, Caruso-Nicoletti M, Cicchetti M, Concolino D, Balsamo A, Buzi F, Ghizzoni L, de Sanctis C.

J Endocrinol Invest. 2007 Feb;30(2):97-103.


Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N.

J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. Epub 2006 Sep 5.


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