Sfoglia per Autore  

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Mostrati risultati da 101 a 200 di 202
Titolo Data di pubblicazione Autore(i) File
Relevance of symptoms versus objective evidences in neonatal grastroesophageal reflux disease 2005 Cresi F; Savino F; Marinaccio C; Testa A; Russo MC; De Sanctis L; Silvestro L
New insights into cystinuria: 40 New mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype 2005 Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M; Nunes V.
Rilevanza dei sintomi nel GERD neonatale. Analasi combinata mediante videoregistrazione, impedenzometria esofagea ed epigastrica e pH-metria 2005 F. Cresi; D. Farinasso; L. Costa; L. De Sanctis; M. Ferrigno; C.M. Marinaccio; L. Silvestro
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: Cystinuria. 2005 Nunes V; Font-Llitjos M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacin M; Nunes V.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC3A1. Disease: cystinuria. 2005 Nunes V; Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I. 2005 Nunes V; Font-Llitjós M; Jimenez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M.
Iponatriemia neonatale 2005 De Sanctis L.
Sindrome di McCune-Albright: persistenza de iperfunzione ovarica autonoma durante l'adolescenza e l'età giovanile adulta. 2005 Matarazzo P; Lala R; Andreo R; Einaudi S; Altare F; Buzi F; De Luca F; De Sanctis V; Rigon F; Wasniewska M; De Sanctis L; De Sanctis C.
Pseudoipoaldosteronismo e iponatremia neonatale. 2005 De Sanctis L.
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 2006 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.
The rare forme of pseudohypoparathyroidism type Ic (PHP-Ic) is due to mutations in the C-terminal of the GNAS gene 2006 De Sanctis L; Ahrens W; Ceoloni B; Grosso S; Salerno MC; Street M; Hiort O; De Sanctis C.
Naturally occurring mineralcorticoid receptor mutations causingautosomal dominant pseudohypoaldosteronism type I - different pathogenetic molecular mechanisms resulting in diverse clinical phenotype 2006 Riepe F; De Sanctis L; Einaudi S; testa A; Karges B; Sippel WG; Toth GF; Krone N.
McCune-Albright syndrome: persistence of autonomous ovarian hyperfunction during adolescence and early adult age. 2006 Matarazzo P; Lala R; Andreo M; Einaudi S; Altare F; Viora E; Buzi F; De Luca F; De Sanctis V; Rigon F; Wasniewska M; De Sanctis L; de Sanctis C; Study Group for Gs alpha Protein Related Diseases of the Italian Society for Pediatric Endocrinology and Diabetes.
McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation. 2006 Arrigo T; Pirazzoli P; De Sanctis L; Leone O; Wasniewska M; Messina MF; De Luca F.
Relationship between gastro-oesophageal reflux and gastric activity in newborns assessed by combined intraluminal impedance, pH metry and epigastric impedance 2006 Cresi F; de Sanctis L; Savino F; Bretto R; Testa A; Silvestro L.
Pseudohypoparathyroidism: history of the disease. 2006 De Sanctis L.
Clinical heterogeneity of familial pseudohypoparathyroidism. 2006 Foppiani L; Del Monte P; Faravelli F; de Sanctis L; Marugo A; Bernasconi D.
Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndrome. 2006 Gesmundo R; Guanà R; Valfrè L; De Sanctis L; Matarazzo P; Marzari D; Lala R.
Genetics of McCune-Albright syndrome. 2006 De Sanctis L; Delmastro L; Russo MC; Matarazzo P; Lala R; de Sanctis C.
Relazioni tra stato di sonno/veglia e GER non acidi nel neonato 2006 F. Cresi; L. de Sanctis; A. Testa; M.C. Marinaccio; D. Farinasso; E. Coppo; P. Stroppiana; L. Silvestro
Foreword 2006 De Sanctis L; Lala R.
Trisma serrato in sindrome di moebius associata a sindrome di poland 2006 A. Testa; L. de Sanctis; F. Cresi; M.C. Marinaccio; M.C. Russo; L. Costa; M. Raggi; L. Silvestro
Metaemoglobinemia in neonato da diluizione latte formula in brodo di zucchine - caso clinico 2006 D. Farinasso; A. Testa; M.C. Marinaccio; M.C. Russo; G. Borgarello; L. Costa; F. Cresi; L. de Sanctis; L. Silvestro
Malassorbimento di glucosio-galattosio. Caso clinico 2006 M.C. Russo; G. Agosta; G. Agriesti; G. Borgarello; E. Coppo; L. de Sanctis; M.C. Marinaccio; P. Stroppiana; L. Silvestro
Epatoblastoma ad insorgenza neonatale in sindrome di beckwith-wiedemann: quale ruolo l’alterato imprinting del gene per l’igf-2? 2007 de Sanctis L; Cerutti F; Russo MC; Marinaccio C; Silvestro L; Miniero R
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. 2007 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.
Rara sindrome da delezione di geni contigui: insufficienza surrenalica associata a ipertrigliceridemia ed elevazione delle creatinkinasi 2007 Russo MC; de Sanctis L; Einaudi S; Coppo E; Boffi P; Silvestro L
Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up. 2008 De Luca F; Mitchell V; Wasniewska M; Arrigo T; Messina MF; Valenzise M; de Sanctis L; Lahlou N.
Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition 2008 de Sanctis L; Russo MC; Marinaccio C; Einaudi S; Agosta G; Coppo E; Boffi P; Silvestro L
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. 2009 Ferrara AM; De Sanctis L; Rossi G; Capuano S; Del Prete G; Zampella E; Gianino P; Corrias A; Fenzi G; Zannini M; Macchia PE.
Ipoglicemia e iperglicemia nel neonato IUGR. 2009 De Sanctis L.
Genetic syndrome suspicion: examples of clinical approach in the neonatal unit. 2010 Giuffrè M; De Sanctis L.
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. 2010 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.
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. 2010 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.
Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit. 2010 De Sanctis L; Giuffrè M.
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. 2011 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.
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. 2011 Mussa A; Ferrero GB; Ceoloni B; Basso E; Chiesa N; De Crescenzo A; Pepe E; Silengo M; de Sanctis L.
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup ofpseudohypoparathyroidism affecting selectively Gsα-receptor interaction. 2011 Thiele S; de Sanctis L; Werner R; Grötzinger J; Aydin C; Jüppner H; Bastepe M; Hiort O.
Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem. 2011 De Sanctis L; Memo L; Pichini S; Tarani L; Vagnarelli F.
Thyroid Abnormalities in Children and Adolescents with McCune-Albright Syndrome. 2012 Tessaris D; Corrias A; Matarazzo P; De Sanctis L; Wasniewska M; Messina MF; Vigone MC; Lala R.
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 2013 Elli FM;deSanctis L;Ceoloni B;Barbieri AM;Bordogna P;Beck-Peccoz P;Spada A;Mantovani G
SCREENING UDITIVO IN NEONATI CON PATOLOGIE RARE E COMPLESSE. 2013 Beux S; Baricco M; Fissore MF; Albera R; Silvestro L; de Sanctis L
Autosomal Dominant Pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR. 2014 Elli FM; De Sanctis L; Peverelli E; Bordogna P; Pivetta B; Miolo G; Beck-Peccoz P; Spada A; Mantovani G.
Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism. 2014 Feyles F;Mussa A;Peiretti V;Tessaris D;Santanera A;Corrias A;de Sanctis L;Calvo L
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with Pseudohypoparathyroidism type I and GNAS epigenetic alterations. 2014 Elli FM; de Sanctis L; Bollati V; Tarantini L; Filopanti M;Barbieri AM; Peverelli E; Beck-Peccoz P; Spada A; Mantovani G
Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome 2015 Messina, Maria Francesca; Aversa, Tommaso; DE SANCTIS, Luisa; Wasniewska, Malgorzata; Valenzise, Mariella; Pajno, Giovanni Battista; De Luca, Filippo; Lombardo, Fortunato
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms 2015 Garin, Intza; Elli, Francesca M.; Linglart, Agnes; Silve, Caroline; De Sanctis, Luisa; Bordogna, Paolo; Pereda, Arrate; Clarke, Joe T. R.; Kannengiesser, Caroline; Coutant, Regis; Tenebaum-Rakover, Yardena; Admoni, Osnat; De Nanclares, Guiomar Perez; Mantovani, Giovanna
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism 2016 Elli, Francesca Marta; Bordogna, Paolo; De Sanctis, Luisa; Giachero, Federica; Verrua, Elisa; Segni, Maria; Mazzanti, Laura; Boldrin, Valentina; Toromanovic, Alma; Spada, Anna; Mantovani, Giovanna
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption 2016 DE SANCTIS, Luisa; Giachero, F.; Mantovani, G.; Weber, G.; Salerno, M.; Baroncelli, G. I.; Elli, M. F.; Matarazzo, P.; Wasniewska, M.; Mazzanti, L.; Scirè, G.; Tessaris, D.
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network 2016 Thiele, Susanne; Mantovani, Giovanna; Barlier, Anne; Boldrin, Valentina; Bordogna, Paolo; DE SANCTIS, Luisa; Elli, Francesca; Freson, Kathleen; Garin, Intza; Grybek, Virginie; Hanna, Patrick; Izzi, Benedetta; Hiort, Olaf; Lecumberri, Beatriz; Pereda, Arrate; Saraff, Vrinda; Silve, Caroline; Turan, Serap; Usardi, Alessia; Werner, Ralf; Perez de Nanclares, Guiomar; Linglart, Agnès
The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network 2016 Elli, Francesca Marta; Linglart, Agnès; Garin, Intza; de Sanctis, Luisa; Bordogna, Paolo; Grybek, Virginie; Pereda, Arrate; Giachero, Federica; Verrua, Elisa; Hanna, Patrick; Mantovani, Giovanna; Perez de Nanclares, Guiomar
Tolvaptan treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: A report of three cases 2017 Tuli, Gerdi*; Tessaris, Daniele; Einaudi, Silvia; De Sanctis, Luisa; Matarazzo, Patrizia
Combining Real-Time COLD-and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndromeâ 2017 de Sanctis, Luisa; Galliano, Ilaria; Montanari, Paola; Matarazzo, Patrizia; Tessaris, Daniele; Bergallo, Massimiliano
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: A case report 2017 Moia, Stefania; Tessaris, Daniele; Einaudi, Silvia; De Sanctis, Luisa; Bona, Gianni; Bellone, Simonetta; Prodam, Flavia
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement 2018 Mantovani, Giovanna; Bastepe, Murat; Monk, David; De Sanctis, Luisa; Thiele, Susanne; Usardi, Alessia; Ahmed, S. Faisal; Bufo, Roberto; Choplin, Timothée; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M.; Freson, Kathleen; García Ramirez, Aurora; Germain-Lee, Emily L.; Groussin, Lionel; Hamdy, Neveen; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Kottler, Marie-Laure; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A.; Mäkitie, Outi; Martin, Regina; Martos-Moreno, Gabriel Ángel; Minagawa, Masanori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebecca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H.; Shore, Eileen M.; Silve, Caroline; Turan, Serap; Woods, Philip; Carola Zillikens, M.; De Nanclares, Guiomar Perez; Linglart, Agnès
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity 2018 Hanna, Patrick; Grybek, Virginie; Perez de Nanclares, Guiomar; Tran, Léa C; de Sanctis, Luisa; Elli, Francesca; Errea, Javier; Francou, Bruno; Kamenicky, Peter; Linglart, Léa; Pereda, Arrate; Rothenbuhler, Anya; Tessaris, Daniele; Thiele, Susanne; Usardi, Alessia; Shoemaker, Ashley H; Kottler, Marie-Laure; Jüppner, Harald; Mantovani, Giovanna; Linglart, Agnès
Growth hormone—Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome 2018 Tessaris, Daniele*; Boyce, Alison M; Zacharin, Margaret; Matarazzo, Patrizia; Lala, Roberto; De Sanctis, Luisa; Collins, Michael T
Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age 2018 Tuli, Gerdi; Tessaris, Daniele; Einaudi, Silvia; Matarazzo, Patrizia; De Sanctis, Luisa
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 2018 Casula M.; Olmastroni E.; Pirillo A.; Catapano A.L.; Arca M.; Averna M.; Bertolini S.; Calandra S.; Tarugi P.; Pellegatta F.; Angelico F.; Bartuli A.; Biasucci G.; Biolo G.; Bonanni L.; Bonomo K.; Borghi C.; Bossi A.C.; Branchi A.; Carubbi F.; Cipollone F.; Citroni N.; Federici M.; Ferri C.; Fiorenza A.M.; Giaccari A.; Giorgino F.; Guardamagna O.; Iannuzzi A.; Iughetti L.; Lupattelli G.; Lupi A.; Mandraffino G.; Marcucci R.; Maroni L.; Miccoli R.; Mombelli G.; Muntoni S.; Pecchioli V.; Pederiva C.; Pipolo A.; Pisciotta L.; Pujia A.; Purrello F.; Repetti E.; Rubba P.; Sabba C.; Sampietro T.; Sarzani R.; Tagliabue M.P.; Trenti C.; Vigna G.B.; Werba J.P.; Zambon S.; Zenti M.G.; Minicocci I.; Noto D.; Fortunato G.; Banderali G.; Benso A.; Bigolin P.; Bonora E.; Bruzzi P.; Bucci M.; Buonuomo P.S.; Capra M.E.; Cardolini I.; Cefalu B.; Cervelli N.; Chiariello G.; Cocci G.; Colombo E.; Cremonini A.L.; D'addato S.; D'erasmo L.; Dal Pino B.; De Sanctis L.; De Vita E.; Del Ben M.; Di Costanzo A.; Di Taranto M.D.; Fasano T.; Gentile L.; Gentile M.; Ghirardello O.; Grigore L.; Lussu M.; Meregalli G.; Moffa S.; Montalcini T.; Morgia V.; Nascimbeni F.; Pasta A.; Pavanello C.; Saitta A.; Scicali R.; Siepi D.; Spagnolli W.; Spina R.; Sticchi E.; Suppressa P.; Vigo L.; Vinci P.; Manzato E.; Tragni E.; Zampoleri V.
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3 2019 Elli F.M.; Desanctis L.; Maffini M.A.; Bordogna P.; Tessaris D.; Pirelli A.; Arosio M.; Linglart A.; Mantovani G.
Plasma cortisol and ACTH levels in 416 VLBW preterm infants during the first month of life: distribution in the AGA/SGA population 2019 Mori A.; Tuli G.; Magaldi R.; Ghirri P.; Tessaris D.; Rinaldi M.; Bagnoli F.; de Sanctis L.
Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism 2019 Tuli G.; Buganza R.; Tessaris D.; Einaudi S.; Matarazzo P.; de Sanctis L.
X-linked hypophosphatemic rickets: An Italian experts' opinion survey 2019 Emma F.; Cappa M.; Antoniazzi F.; Bianchi M.L.; Chiodini I.; Eller Vainicher C.; Di Iorgi N.; Maghnie M.; Cassio A.; Balsamo A.; Baronio F.; De Sanctis L.; Tessaris D.; Baroncelli G.I.; Mora S.; Brandi M.L.; Weber G.; D'Ausilio A.; Lanati E.P.
Clinical approach to sodium homeostasis disorders in children with pituitary-suprasellar tumors 2019 Tuli, Gerdi; Matarazzo, Patrizia; de Sanctis, Luisa
2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance 2019 Elli F.M.; de Sanctis L.; Madeo B.; Maffini M.A.; Bordogna P.; Pirelli A.; Arosio M.; Mantovani G.
Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR 2019 Elli F.M.; de Sanctis L.; Bergallo M.; Maffini M.A.; Pirelli A.; Galliano I.; Bordogna P.; Arosio M.; Mantovani G.
Jaffe-Campanacci syndrome or neurofibromatosis type 1: A case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma 2020 Vannelli S.; Buganza R.; Runfola F.; Mussinatto I.; Andreacchio A.; De Sanctis L.
Growth assessment in preterm children from birth to preschool age 2020 Ceratto S.; Savino F.; Vannelli S.; De Sanctis L.; Giuliani F.
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators 2020 Vannelli, Silvia; Baffico, Maria; Buganza, Raffaele; Verna, Francesca; Vinci, Giulia; Tessaris, Daniele; Di Rosa, Gianpaolo; Borraccino, Alberto; de Sanctis, Luisa
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study 2020 Santoro, Claudia; Perrotta, Silverio; Picariello, Stefania; Scilipoti, Martina; Cirillo, Mario; Quaglietta, Lucia; Cinalli, Giuseppe; Cioffi, Daniela; Di Iorgi, Natascia; Maghnie, Mohamad; Gallizia, Annalisa; Parpagnoli, Maria; Messa, Federica; De Sanctis, Luisa; Vannelli, Silvia; Marzuillo, Pierluigi; Miraglia Del Giudice, Emanuele; Grandone, Anna
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients 2020 Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Ahmed, S Faisal; Bufo, Roberto; Choplin, Timothée; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M; Garcia Ramirez, Aurora; Germain-Lee, Emily L; Groussin, Lionel; Hamdy, Neveen A T; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A; Mäkitie, Outi; Martin, Regina; Martos-Moreno, Gabriel Ángel; Minagawa, Manasori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebeca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H; Shore, Eileen M; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M Carola; Perez de Nanclares, Guiomar; Linglart, Agnès
Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in down syndrome children 2020 Pepe G.; Corica D.; de Sanctis L.; Salerno M.; Faienza M.F.; Tessaris D.; Tuli G.; Scala I.; Penta L.; Alibrandi A.; Pajno G.B.; Aversa T.; Wasniewska M.
Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy 2021 Tinti D.; Savastio S.; Grosso C.; De Donno V.; Trada M.; Nugnes M.; Bertelli E.; Franceschi L.; Marchisio M.; Pozzi E.; Tappi E.; Felici E.; De Sanctis L.; Rabbone I.
differences of sex development in the newborn: from clinical scenario to molecular diagnosis 2021 Ibba A.; del Pistoia M.; Balsamo A.; Baronio F.; Capalbo D.; Russo G.; de Sanctis L.; Bizzarri C.
Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up 2021 Tessaris D.; Bonino E.; Weber G.; Wasniewska M.; Corica D.; Pitea M.; Scire G.; Caruso-Nicoletti M.; Fintini D.; de Sanctis L.
Diagnostic re-evaluation and potential predictor factors of transient and permanent congenital hypothyroidism in eutopic thyroid gland 2021 Tuli G.; Munarin J.; De Sanctis L.
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study 2021 Tessaris, Daniele; Matarazzo, Patrizia; Tuli, Gerdi; Tuscano, Antonella; Rabbone, Ivana; Spinardi, Alessandra; Lezo, Antonella; Fenocchio, Giorgia; Buganza, Raffaele; de Sanctis, Luisa
Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology 2021 van Trotsenburg, Adrianus Sarinus; Stoupa, Athanasia; Léger, Juliane; Rohrer, Tilman Robert; Peters, Catherine; Fugazzola, Laura; Cassio, Alessandra; Heinrichs, Claudine; Beauloye, Veronique; Pohlenz, Joachim; Rodien, Patrice; Coutant, Regis; Szinnai, Gabor; Murray, Philip; Bartès, Beate; Luton, Dominique; Salerno, Mariacarolina; De Sanctis, Luisa; Vigone, Maria Cristina; Krude, Heiko; Persani, Luca; Polak, Michel
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients 2021 Pereda, Arrate; Elli, Francesca M; Thiele, Suzanne; de Sanctis, Luisa; Rothenbuhler, Anya; Hanna, Patrick; Francou, Bruno; Ertl, Diana Alexandra; Perez de Nanclares, Guiomar; Linglart, Agnès; Mantovani, Giovanna
Biological clock and heredity in pubertal timing: what is new? 2021 Barbieri F.; Ingaghi E.; Nicoletti M.C.; Cassio A.; Grandone A.; de Sanctis L.; Bizzarri C.
Hypogonadism in male and female: which is the best treatment? 2021 de Sanctis L
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations 2021 Tuli, Gerdi; Munarin, Jessica; Tessaris, Daniele; Matarazzo, Patrizia; Einaudi, Silvia; de Sanctis, Luisa
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” 2021 Tuli G.; Munarin J.; Mussa A.; Carli D.; Gastaldi R.; Borgia P.; Vigone M.C.; Abbate M.; Ferrero G.B.; De Sanctis L.
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients 2021 Garelli S.; Dalla Costa M.; Sabbadin C.; Barollo S.; Rubin B.; Scarpa R.; Masiero S.; Fierabracci A.; Bizzarri C.; Crino A.; Cappa M.; Valenzise M.; Meloni A.; De Bellis A.M.; Giordano C.; Presotto F.; Perniola R.; Capalbo D.; Salerno M.C.; Stigliano A.; Radetti G.; Camozzi V.; Greggio N.A.; Bogazzi F.; Chiodini I.; Pagotto U.; Black S.K.; Chen S.; Rees Smith B.; Furmaniak J.; Weber G.; Pigliaru F.; De Sanctis L.; Scaroni C.; Betterle C.
Distribution of plasma copeptin levels and influence of obesity in children and adolescents 2021 Tuli, Gerdi; Munarin, Jessica; Tessaris, Daniele; Einaudi, Silvia; Matarazzo, Patrizia; de Sanctis, Luisa
"primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature" 2021 Tuli G.; Munarin J.; Tessaris D.; Buganza R.; Matarazzo P.; De Sanctis L.
Papillary thyroid microcarcinoma in a boy with Graves' disease: a case report. 2021 Luisa de Sanctis
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 2021 Babu D.; Vannelli S.; Fanelli A.; Mellone S.; Baffico A.M.; Corrado L.; Essa W.A.; Grandone A.; Bellone S.; Monzani A.; Vinci G.; De Sanctis L.; Stuppia L.; Prodam F.; Giordano M.
Predictive factors of malignancy in pediatric patients with thyroid nodules and performance of the Italian classification (SIAPEC 2014) in the outcome of the cytological FNA categories 2021 Tuli G.; Munarin J.; Agosto E.; Matarazzo P.; Quaglino F.; Mormile A.; de Sanctis L.
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy in two siblings: Same mutations but very different phenotypes 2021 Carpino A.; Buganza R.; Matarazzo P.; Tuli G.; Pinon M.; Calvo P.L.; Montin D.; Licciardi F.; De Sanctis L.
Appropriate management of growth hormone deficiency during the age of transition: an Italian Delphi consensus statement 2022 Cannavò S; Cappa M; Ferone D; Isidori AM; Loche S; Salerno M; Maghnie M; Aimaretti G; Ambrosio MR; Bellone S; Caruso M; Castello R; Ceccato F; Cerbone T; Cherubini V; de Carlo E; De Sanctis L; della Casa S; Di Somma C; Faienza MF; Gasco V; Gaudino R; Giacomozzi C; Giavoli C; Guazzarotti L; Klain A; Lania A; Leonardi D; Longhi S; Lughetti L; Maggio MC; Wasniewska GM; Mameli C; Mauro C; Miraglia Del Giudice E; Palermo MCA; Parpagnoli M; Persani L; Pilotta A; Pozzobon G; Rochira V; Rota F; Sacco M; Scarcella S; Scavuzzo F; Sinisi AA; Street ME; Tornese G
Comparison Among Two Liquid Formulations of L-thyroxine in the Treatment of Congenital Hypothyroidism in the First Month of Life: A Pilot Study 2022 Tuli G.; Munarin J.; de Sanctis L.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome 2022 Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
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