Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial
Author(s):
Infante A, Gener B, Vázquez M, Olivares N, Arrieta A, Grau G, Llano I, Madero L, Bueno AM, Sagastizabal B, Gerovska D, Araúzo‐Bravo MJ, Astigarraga I, Rodríguez CI
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Osteogenesis imperfecta
Publication:
Clinical and Translational Medicine v11.1
Year:
2021
ORPHAcode / other:
ORPHA666
DOI:
10.1002/ctm2.265
Keywords:
cell therapy,mesenchymal stem cell,paracrine mechanism of action,regenerative medicine
The Efficacy and Short- and Long-Term Side Effects of Radioactive Iodine Treatment in Pediatric Graves’ Disease: A Systematic Review
Author(s):
Lutterman SL, Zwaveling-Soonawala N, Verberne HJ, Verburg FA, van Trotsenburg AP, Mooij CF
Affiliated Institution / ERN:
Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
European Thyroid Journal v10.5 p353-363
Year:
2021
ORPHAcode / other:
ORPHA525731
DOI:
10.1159/000517174
Keywords:
Graves' disease,Pediatric Graves' disease,Radioactive iodine,Side effects
Thyroid Dysfunction and Thyroid Cancer in Childhood Cancer Survivors: Prevalence, Surveillance and Management
Author(s):
Lebbink C, Waguespack S, van Santen H
Affiliated Institution / ERN:
University Medical Center Utrecht ;
Condition / Disease:
Thyroid carcinoma
Publication:
Frontiers of Hormone Research p140-153
Year:
2021
ORPHAcode / other:
ORPHA100088
Safety and Effectiveness of Recombinant Human Growth Hormone in Children with Turner Syndrome: Data from the PATRO Children Study
Author(s):
Backeljauw P, Kanumakala S, Loche S, Schwab KO, Pfäffle RW, Höybye C, Lundberg E, Battelino T, Kriström B, Giemza T, Zouater H
Affiliated Institution / ERN:
Karolinska University Hospital ; University Medical Centre Ljubljana ;
Condition / Disease:
45,X
Publication:
Hormone Research in Paediatrics v94.3-4 p133-143
Year:
2021
ORPHAcode / other:
ORPHA881
DOI:
10.1159/000515875
Keywords:
Growth hormone replacement therapy,PATRO Children,Pediatric endocrinology,Turner syndrome
Management of Germ Cell Tumours of the Testis in Adult Patients. German Clinical Practice Guideline Part I: Epidemiology, Classification, Diagnosis, Prognosis, Fertility Preservation, and Treatment Recommendations for Localized Stages
Author(s):
Kliesch S, Schmidt S, Wilborn D, Aigner C, Albrecht W, Bedke J, Beintker M, Beyersdorff D, Bokemeyer C, Busch J, Classen J, de Wit M, Dieckmann K, Diemer T, Dieing A, Gockel M, Göckel-Beining B, Hakenberg OW, Heidenreich A, Heinzelbecker J, Herkommer K, Hermanns T, Kaufmann S, Kornmann M, Kotzerke J, Krege S, Kristiansen G, Lorch A, Müller A, Oechsle K, Ohloff T, Oing C, Otto U, Pfister D, Pichler R, Recken H, Rick O, Rudolph Y, Ruf C, Schirren J, Schmelz H, Schmidberger H, Schrader M, Schweyer S, Seeling S, Souchon R, Winter C, Wittekind C, Zengerling F, Zermann D, Zillmann R, Albers P
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Germ Cell Tumours of the Testis
Publication:
Urologia Internationalis v105.3-4 p169-180
Year:
2021
ORPHAcode / other:
DOI:
10.1159/000510407
Keywords:
Clinical practice guideline,Diagnosis,Fertility preservation,Germ cell tumour of the testis,Prognosis,Staging
Papillary thyroid carcinoma arising in ectopic thyroid tissue within sternocleidomastoid muscle: a review of current literature
Author(s):
BARREA L, FONDERICO F, DI SOMMA C, PUGLIESE G, DE ALTERIIS G, MASCOLO M, COLAO A, SAVASTANO S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Minerva Endocrinologica v45.4
Year:
2021
ORPHAcode / other:
Somatostatin receptor ligands induce TSH deficiency in thyrotropin-secreting pituitary adenoma
Author(s):
Illouz F, Chanson P, Sonnet E, Brue T, Ferriere A, Raffin Sanson M, Vantyghem M, Raverot G, Munier M, Rodien P, Briet C
Affiliated Institution / ERN:
CHU d'Angers ; Assistance Publique-Hôpitaux de Marseille ; Hospices Civils de Lyon ;
Condition / Disease:
TSH-secreting pituitary adenoma
Publication:
European Journal of Endocrinology v184.1 p1-8
Year:
2021
ORPHAcode / other:
ORPHA91347
A novel peptide antagonist of the human growth hormone receptor
Author(s):
Basu R, Nahar K, Kulkarni P, Kerekes O, Sattler M, Hall Z, Neggers S, Holub JM, Kopchick JJ
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Publication:
Journal of Biological Chemistry v296 p100588
Year:
2021
ORPHAcode / other:
DOI:
10.1016/j.jbc.2021.100588
Keywords:
GH receptor,growth hormone,peptide antagonist,peptide mimetic,site 1-binding helix
Emerging Therapies in Pheochromocytoma and Paraganglioma: Immune Checkpoint Inhibitors in the Starting Blocks
Author(s):
Fanciulli G, Di Molfetta S, Dotto A, Florio T, Feola T, Rubino M, de Cicco F, Colao A, Faggiano A
Affiliated Institution / ERN:
IRCCS Ospedale Policlinico San Martino – Genova ; IRCCS Auxologico Italian Institute - Milan ; AOU Federico II - Naples ;
Condition / Disease:
Pheochromocytoma and Paraganglioma
Publication:
Journal of Clinical Medicine v10.1 p88
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.3390/jcm10010088
Keywords:
atezolizumab,avelumab,cemiplimab,durvalumab,immune checkpoint inhibitors,ipilimumab,nivolumab,paraganglioma,pembrolizumab,pheochromocytoma
Clinical Epigenetics of Neuroendocrine Tumors: The Road Ahead
Author(s):
Colao A, de Nigris F, Modica R, Napoli C
Affiliated Institution / ERN:
National Institute of Children's Diseases ; Máxima Medisch Centrum Veldhoven ;
Condition / Disease:
Neuroendocrine Neoplasm
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA877
DOI:
10.3389/fendo.2020.604341
Keywords:
biomarkers,epigenetics,neuroendocrine,neuroendocrine neoplasms,neuroendocrine tumor,trials
Medical Treatment of Cushing’s Disease: An Overview of the Current and Recent Clinical Trials
Author(s):
Pivonello R, Ferrigno R, De Martino MC, Simeoli C, Di Paola N, Pivonello C, Barba L, Negri M, De Angelis C, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Cushing disease
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA96253
DOI:
10.3389/fendo.2020.00648
Keywords:
ACTH,Cushing's disease,clinical trials,cortisol,experimental therapy,hypercortisolism,pituitary tumor
Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome
Author(s):
Shukur HH, de Rijke YB, van Rossum EFC, Hussain-Alkhateeb L, Höybye C
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
BMC Endocrine Disorders v20.1
Year:
2020
ORPHAcode / other:
ORPHA739
DOI:
10.1186/s12902-020-00646-w
Keywords:
Chronic stress,Hair cortisol,Obesity,Prader-Willi syndrome
Multidisciplinary management of acromegaly: A consensus
Author(s):
Giustina A, Barkhoudarian G, Beckers A, Ben-Shlomo A, Biermasz N, Biller B, Boguszewski C, Bolanowski M, Bollerslev J, Bonert V, Bronstein MD, Buchfelder M, Casanueva F, Chanson P, Clemmons D, Fleseriu M, Formenti AM, Freda P, Gadelha M, Geer E, Gurnell M, Heaney AP, Ho KKY, Ioachimescu AG, Lamberts S, Laws E, Losa M, Maffei P, Mamelak A, Mercado M, Molitch M, Mortini P, Pereira AM, Petersenn S, Post K, Puig-Domingo M, Salvatori R, Samson SL, Shimon I, Strasburger C, Swearingen B, Trainer P, Vance ML, Wass J, Wierman ME, Yuen KCJ, Zatelli MC, Melmed S
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p667-678
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11154-020-09588-z
Keywords:
Acromegaly,Consensus,Medical therapy,Multidisciplinary management,Pituitary tumor centers of excellence,Radiotherapy,Surgery
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data
Author(s):
Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, Imbriaco M, Feriozzi S, Pisani A, Pisani A, Riccio E, Cocozza S, Santoro C, Esposito R, Imbriaco M, Russo C, Di Risi T, Chiariotti L, Spinelli L, Pontillo A, Cuocolo A, Cennamo G, Colao A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Fabry disease
Publication:
European Journal of Human Genetics v28.12 p1662-1668
Year:
2020
ORPHAcode / other:
ORPHA:324
Risk factors and management of pasireotide-associated hyperglycemia in acromegaly
Author(s):
Gadelha MR, Gu F, Bronstein MD, Brue TC, Fleseriu M, Shimon I, van der Lely AJ, Ravichandran S, Kandra A, Pedroncelli AM, Colao AAL
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Endocrine Connections v9.12 p1178-1190
Year:
2020
ORPHAcode / other:
ORPHA963
Reference ranges of late-night salivary cortisol and cortisone measured by LC–MS/MS and accuracy for the diagnosis of Cushing’s syndrome
Author(s):
Ponzetto F, Settanni F, Parasiliti-Caprino M, Rumbolo F, Nonnato A, Ricciardo M, Amante E, Priolo G, Vitali S, Anfossi L, Arvat E, Ghigo E, Giordano R, Mengozzi G
Affiliated Institution / ERN:
Condition / Disease:
Cushing’s Syndrome
Publication:
Journal of Endocrinological Investigation v43.12 p1797-1806
Year:
2020
ORPHAcode / other:
ORPHA553
DOI:
10.1007/s40618-020-01388-1
Keywords:
Cortisol,Cortisone,Cushing’s syndrome,Hypercortisolism,LC–MS/MS,Saliva
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Author(s):
Dörr H, Schulze N, Bettendorf M, Binder G, Bonfig W, Denzer C, Dunstheimer D, Salzgeber K, Schmidt H, Schwab KO, Voss E, Wabitsch M, Wölfle J
Affiliated Institution / ERN:
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Molecular and Cellular Pediatrics v7.1
Year:
2020
ORPHAcode / other:
ORPHA418
DOI:
10.1186/s40348-020-00100-w
Keywords:
17OHP,21-Hydroxylase deficiency,ACTH stimulation test,Androgenisation,CYP21A2 mutations,Premature pubarche
The extent of surgery for low-risk 1–4 cm papillary thyroid carcinoma: a catch-22 situation. A retrospective analysis of 497 patients based on the 2015 ATA Guidelines recommendation 35
Author(s):
Anda Apiñániz E, Zafon C, Ruiz Rey I, Perdomo C, Pineda J, Alcalde J, García Goñi M, Galofré JC
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrine v70.3 p538-543
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
10.1007/s12020-020-02371-9
Keywords:
Initial Management,Lobectomy,Low Risk,Papillary Thyroid Carcinoma,Risk Factors,Total Thyriodectomy
Significance of nuclear cathepsin V in normal thyroid epithelial and carcinoma cells
Author(s):
Al-Hashimi A, Venugopalan V, Sereesongsaeng N, Tedelind S, Pinzaru AM, Hein Z, Springer S, Weber E, Führer D, Scott CJ, Burden RE, Brix K
Affiliated Institution / ERN:
Condition / Disease:
Thyroid Carcinoma
Publication:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research v1867.12 p118846
Year:
2020
ORPHAcode / other:
ORPHA100088
DOI:
10.1016/j.bbamcr.2020.118846
Keywords:
Cysteine cathepsins,Non-canonical trafficking,Nuclear forms,Proliferation-promoting,Thyroid cancer
Enfermedad de Graves con autoanticuerpos contra el receptor de la TSH negativos: a propósito de 5 casos
Author(s):
Scatti Regàs A, Pujol Borrell R, Ferrer Costa R, Puerto Carranza E, Clemente León M
Affiliated Institution / ERN:
Condition / Disease:
Paediatric-onset Graves disease
Publication:
Anales de Pediatría v93.6 p417-419
Year:
2020
ORPHAcode / other:
ORPHA525731
ENDOCRINE TUMOURS: Calcitonin in thyroid and extra-thyroid neuroendocrine neoplasms: the two-faced Janus
Author(s):
Giannetta E, Guarnotta V, Altieri B, Sciammarella C, Guadagno E, Malandrino P, Puliani G, Feola T, Isidori AM, Colao AAL, Faggiano A
Affiliated Institution / ERN:
AOUI Verona ; AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Neuroendocrine Neoplasm
Publication:
European Journal of Endocrinology v183.6 pR197-R215
Year:
2020
ORPHAcode / other:
ORPHA877
The optimal numerosity of the referral population of pituitary tumors centers of excellence (PTCOE): A surgical perspective
Author(s):
Mortini P, Nocera G, Roncelli F, Losa M, Formenti AM, Giustina A
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p527-536
Year:
2020
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11154-020-09564-7
Keywords:
Learning curve,Pituitary adenomas,Pituitary surgery,Pituitary tumor center of excellence
Etiology and Pathophysiology of Hypoparathyroidism: A Narrative Review
Author(s):
Pasieka JL, Wentworth K, Yeo CT, Cremers S, Dempster D, Fukumoto S, Goswami R, Houillier P, Levine MA, Pasternak JD, Perrier ND, Sitges-Serra A, Shoback DM
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ;
Condition / Disease:
Hypoparathyroidism
Publication:
Journal of Bone and Mineral Research v37.12 p2586-2601
Year:
2020
ORPHAcode / other:
ORPHA181405
DOI:
10.1002/jbmr.4714
Keywords:
CELL/TISSUE SIGNALING,DISORDERS OF CALCIUM/PHOSPHATE METABOLISM,ENDOCRINE PATHWAYS,HORMONE REPLACEMENT/RECEPTOR MODULATORS,PARATHYROID-RELATED DISORDERS,PTH/VIT D/FGF23,THERAPEUTICS
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
Author(s):
Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication:
Journal of Bone and Mineral Research v37.9 p1623-1641
Year:
2020
ORPHAcode / other:
DOI:
10.1002/jbmr.4668
Keywords:
BONE HISTOMORPHOMETRY,BONE MODELING AND REMODELING,GENETIC RESEARCH,OSTEOPOROSIS,WNT/β-CATENIN/LRPS
Comaneci-Assisted Coiling as a Treatment Option for Acutely Ruptured Wide Neck Cerebral Aneurysm: Case Series of 118 Patients
Author(s):
Sirakov A, Minkin K, Penkov M, Ninov K, Karakostov V, Sirakov S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Neurosurgery v87.6 p1148-1156
Year:
2020
ORPHAcode / other:
DOI:
10.1093/neuros/nyaa200
Keywords:
Bifurcation aneurysms,Coil embolization,Comaneci device,Endovascular remodeling,Wide-necked aneurysms
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
Author(s):
Rossi A, Simeoli C, Salerno M, Ferrigno R, Della Casa R, Colao A, Strisciuglio P, Parenti G, Pivonello R, Melis D
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases v15.1
Year:
2020
ORPHAcode / other:
DOI:
10.1186/s13023-020-01377-w
Keywords:
11βHSD1,Autoimmune,Cholesterol,Cortisol,Insulin-resistance
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
Author(s):
Brizola E, Adami G, Baroncelli GI, Bedeschi MF, Berardi P, Boero S, Brandi ML, Casareto L, Castagnola E, Fraschini P, Gatti D, Giannini S, Gonfiantini MV, Landoni V, Magrelli A, Mantovani G, Michelis MB, Nasto LA, Panzeri L, Pianigiani E, Scopinaro A, Trespidi L, Vianello A, Zampino G, Sangiorgi L
Affiliated Institution / ERN:
ERN BOND ; AOU-Bologna ; AOUI Verona ; AOU Pisan ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; IRCCS Istituto Giannina Gaslini, Genova ; University Hospital of Padova ;
Condition / Disease:
Rare bone disease
Publication:
Orphanet Journal of Rare Diseases v15.1
Year:
2020
ORPHAcode / other:
ORPHA93419
DOI:
10.1186/s13023-020-01513-6
Keywords:
2019-nCoV,Bone diseases,COVID-19,Care,Coronavirus,ERN,Rare diseases,Remote
Asymmetry indicates more severe and active disease in Graves’ orbitopathy: results from a prospective cross-sectional multicentre study
Author(s):
Perros P, Žarković MP, Panagiotou GC, Azzolini C, Ayvaz G, Baldeschi L, Bartalena L, Boschi AM, Nardi M, Brix TH, Covelli D, Daumerie C, Eckstein AK, Fichter N, Ćirić S, Hegedüs L, Kahaly GJ, Konuk O, Lareida JJ, Okosieme OE, Leo M, Mathiopoulou L, Clarke L, Menconi F, Morris DS, Orgiazzi J, Pitz S, Salvi M, Muller I, Knežević M, Wiersinga WM, Currò N, Dayan CM, Marcocci C, Marinò M, Möller L, Pearce SH, Törüner F, Bernard M
Affiliated Institution / ERN:
Condition / Disease:
Graves disease
Publication:
Journal of Endocrinological Investigation v43.12 p1717-1722
Year:
2020
ORPHAcode / other:
E05.0
Safety of current recombinant human growth hormone treatments for adults with growth hormone deficiency and unmet needs
Author(s):
Höybye C, Beck-Peccoz P, Simsek S, Zabransky M, Zouater H, Stalla G, Murray RD
Affiliated Institution / ERN:
Condition / Disease:
Growth Hormone Deficiency
Publication:
Expert Opinion on Drug Safety v19.12 p1539-1548
Year:
2020
ORPHAcode / other:
ORPHA101957
DOI:
10.1080/14740338.2020.1839410
Keywords:
Growth hormone,adults,growth hormone replacement,safety
Serotonin pathway in carcinoid syndrome: Clinical, diagnostic, prognostic and therapeutic implications
Author(s):
Fanciulli G, Ruggeri RM, Grossrubatscher E, Calzo FL, Wood TD, Faggiano A, Isidori A, Colao A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Carcinoid syndrome
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p599-612
Year:
2020
ORPHAcode / other:
ORPHA100093
DOI:
10.1007/s11154-020-09547-8
Keywords:
Analytical methods,Carcinoid syndrome,Neuroendocrine neoplasm,Serotonin pathway,Telotristat