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Search life-sciences literature (45,100,050 articles, preprints and more)

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Correction: Cushing syndrome in paediatric population: who and how to screen.
Chioma L, Patti G, Cappa M, Maghnie M
J Endocrinol Invest, 09 Nov 2024
Cited by: 0 articles | PMID: 39520641
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Distinguishing genetic alterations versus (epi)mutations in Silver-Russell syndrome and focus on the IGF1R gene.
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, [...] Russo S
J Clin Endocrinol Metab, dgae730, 16 Oct 2024
Cited by: 0 articles | PMID: 39412159
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Meeting report from the 3rd ISCBH-ERN BOND Achondroplasia Workshop on Long Bone Pathology in Children with Achondroplasia, Salzburg, Austria 22nd June 2024.
Cheung MS, Alves I, Carl-Innig P, Eastwood D, Maghnie M, Offiah A, Paley D, Riganti S, Savarirayan R, Sessa M, Vogt B, Mohnike K
Bone, 190:117268, 02 Oct 2024
Cited by: 0 articles | PMID: 39366536
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One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study.
Bassi M, Strati MF, Spiandorello G, Scalas M, Cresta F, Calevo MG, d'Annunzio G, Castellani C, Minuto N, Maghnie M, Casciaro R
Life (Basel), 14(10):1309, 16 Oct 2024
Cited by: 0 articles | PMID: 39459609 | PMCID: PMC11509452
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Cushing syndrome in paediatric population: who and how to screen.
Chioma L, Patti G, Cappa M, Maghnie M
J Endocrinol Invest, 30 Sep 2024
Cited by: 0 articles | PMID: 39347909
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Safety and Efficacy of Using Advanced Hybrid Closed Loop Off-Label in an Infant Diagnosed with Permanent Neonatal Diabetes Mellitus: A Case Report and a Look to the Future.
Pezzotta F, Sarale N, Spacco G, Tantari G, Bertelli E, Bracciolini G, Secco A, d'Annunzio G, Maghnie M, Minuto N, Bassi M
Children (Basel), 11(10):1225, 09 Oct 2024
Cited by: 0 articles | PMID: 39457190 | PMCID: PMC11506781
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International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.
Boero S, Vodopiutz J, Maghnie M, de Bergua JM, Ginebreda I, Kitoh H, Langendörfer M, Leiva-Gea A, Malone J, McClure P, Mindler GT, Popkov D, Rodl R, Rosselli P, Verdoni F, Vilenskii V, Huser AJ
Orphanet J Rare Dis, 19(1):347, 17 Sep 2024
Cited by: 0 articles | PMID: 39289684 | PMCID: PMC11409630
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One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study
Bassi M, Strati MF, Spiandorello G, Scalas M, Cresta F, Calevo MG, D'Annunzio G, Castellani C, Minuto N, Maghnie M, Casciaro R
Preprints.org, 04 Sep 2024
Cited by: 0 articles | PPR: PPR906502
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Approach to the child and adolescent with Adrenal Insufficiency.
Patti G, Zucconi A, Matarese S, Tedesco C, Panciroli M, Napoli F, Di Iorgi N, Maghnie M
J Clin Endocrinol Metab, dgae564, 18 Aug 2024
Cited by: 0 articles | PMID: 39155058
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Accuracy of Glucagon Testing Across Transition in Young Adults with Childhood-Onset Growth Hormone Deficiency.
Fava D, Guglielmi D, Pepino C, Angelelli A, Casalini E, Varotto C, Panciroli M, Tedesco C, Camia T, Naim A, Allegri AEM, Patti G, Napoli F, Gastaldi R, Parodi S, Salerno MC, Maghnie M, Di Iorgi N
J Clin Endocrinol Metab, dgae408, 24 Jun 2024
Cited by: 2 articles | PMID: 38913686
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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Fredwall S, AlSayed M, Ben-Omran T, Boero S, Cormier-Daire V, Fauroux B, Guillén-Navarro E, Innig F, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Pejin Z, Sessa M, Sousa SB, Irving M
Adv Ther, 41(7):2545-2558, 15 May 2024
Cited by: 0 articles | PMID: 38748332
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Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, [...] Italian Society of Child and Adolescent Neuropsychiatry
Ital J Pediatr, 50(1):73, 18 Apr 2024
Cited by: 1 article | PMID: 38637868 | PMCID: PMC11025175
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, [...] Houlden H
Am J Hum Genet, 111(1):200-210, 20 Dec 2023
Cited by: 0 articles | PMID: 38118446 | PMCID: PMC10806450
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The economic burden of pediatric growth hormone deficiency in Italy: a cost of illness study.
Cappa M, Pozzobon G, Orso M, Maghnie M, Patti G, Spandonaro F, Granato S, Novelli G, La Torre D, Salerno M, Polistena B
J Endocrinol Invest, 47(7):1743-1750, 10 Jan 2024
Cited by: 0 articles | PMID: 38198073 | PMCID: PMC11196344
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Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry.
Bang P, Polak M, Bossowski A, Maghnie M, Argente J, Ramon-Krauel M, Sert C, Perrot V, Mazain S, Woelfle J
J Clin Endocrinol Metab, 109(1):46-56, 01 Dec 2023
Cited by: 1 article | PMID: 37579214 | PMCID: PMC10735455
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Physician experience with once-weekly somatrogon versus once-daily rhGH regimen in pediatric patients with growth hormone deficiency: a cross-sectional survey of physicians from the global phase 3 study.
Gomez R, Lamoureux R, Turner-Bowker DM, Loftus J, Maghnie M, Miller BS, Polak M, Yaworsky A
Front Endocrinol (Lausanne), 14:1254424, 17 Oct 2023
Cited by: 0 articles | PMID: 37955005 | PMCID: PMC10634585
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Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.
Baldo F, Drago E, Nisticò D, Buratti S, Calvillo M, Micalizzi C, Schiaffino MC, Maghnie M
Children (Basel), 10(10):1602, 26 Sep 2023
Cited by: 1 article | PMID: 37892265 | PMCID: PMC10605394
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How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo R, Sforza E, Bedeschi MF, Leoni C, Giorgio V, Rigante D, De Rose C, Kuczynska EM, Romeo DM, Palmacci O, Massimi L, Porro M, Gonfiantini MV, Selicorni A, Allegri A, Maghnie M, Zampino G
Eur J Med Genet, 66(11):104850, 26 Sep 2023
Cited by: 1 article | PMID: 37758167
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Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M
Front Endocrinol (Lausanne), 14:1213098, 28 Jul 2023
Cited by: 3 articles | PMID: 37576960 | PMCID: PMC10422880
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The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD-a non-inferiority Randomised Controlled Trial (RCT).
Brettell E, Högler W, Woolley R, Cummins C, Mathers J, Oppong R, Roy L, Khan A, Hunt C, Dattani M, G. H. D. study group
Trials, 24(1):548, 21 Aug 2023
Cited by: 1 article | PMID: 37605233 | PMCID: PMC10440873
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Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
Grossi A, Rusmini M, Cusano R, Massidda M, Santamaria G, Napoli F, Angelelli A, Fava D, Uva P, Ceccherini I, Maghnie M
Front Genet, 14:1031074, 07 Aug 2023
Cited by: 2 articles | PMID: 37609037 | PMCID: PMC10440434
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Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals.
Fava D, Morandi F, Prigione I, Angelelli A, Bocca P, Pistorio A, Volpi S, Patti G, Pepino C, Casalini E, Allegri AEM, Di Iorgi N, d'Annunzio G, Napoli F, Maghnie M
J Endocr Soc, 7(9):bvad103, 03 Aug 2023
Cited by: 0 articles | PMID: 37564886 | PMCID: PMC10411042
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Precocious Puberty Diagnoses Spike, COVID-19 Pandemic, and Body Mass Index: Findings From a 4-year Study.
Fava D, Pepino C, Tosto V, Gastaldi R, Pepe A, Paoloni D, Strati MF, Angelelli A, Calandrino A, Tedesco C, Camia T, Allegri AEM, Patti G, Casalini E, Bassi M, Calevo MG, Napoli F, Maghnie M
J Endocr Soc, 7(9):bvad094, 03 Aug 2023
Cited by: 2 articles | PMID: 37873499 | PMCID: PMC10590639
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Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillén-Navarro E, Högler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, [...] Irving M
Orphanet J Rare Dis, 18(1):166, 26 Jun 2023
Cited by: 2 articles | PMID: 37365619 | PMCID: PMC10294372
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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB
Orphanet J Rare Dis, 18(1):219, 27 Jul 2023
Cited by: 5 articles | PMID: 37501185 | PMCID: PMC10375694
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