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Items: 1 to 20 of 115


Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism.

Tuli G, Buganza R, Tessaris D, Einaudi S, Matarazzo P, de Sanctis L.

Endocrine. 2019 Nov 8. doi: 10.1007/s12020-019-02128-z. [Epub ahead of print]


Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.

Elli FM, de Sanctis L, Bergallo M, Maffini MA, Pirelli A, Galliano I, Bordogna P, Arosio M, Mantovani G.

Front Genet. 2019 Sep 18;10:862. doi: 10.3389/fgene.2019.00862. eCollection 2019.


2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

Elli FM, de Sanctis L, Madeo B, Maffini MA, Bordogna P, Pirelli A, Arosio M, Mantovani G.

Front Endocrinol (Lausanne). 2019 Aug 29;10:604. doi: 10.3389/fendo.2019.00604. eCollection 2019.


Clinical approach to sodium homeostasis disorders in children with pituitary-suprasellar tumors.

Tuli G, Matarazzo P, de Sanctis L.

Neuroendocrinology. 2019 Aug 12. doi: 10.1159/000502609. [Epub ahead of print] Review.


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.


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