Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Pancreatic Neuroendocrine Tumors in Patients with Multiple Endocrine Neoplasia Type 1: Diagnostic Value of Different MRI Sequences
Author(s):
Verde F, Galatola R, Romeo V, Perillo T, Liuzzi R, Camera L, Klain M, Modica R, Faggiano A, Napolitano V, Colao A, Brunetti A, Maurea S
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Neuroendocrinology v111.7 p696-704
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1159/000509647
Keywords:
Imaging,Magnetic resonance imaging,Multiple endocrine neoplasia type 1,Pancreas,Pancreatic neuroendocrine tumors
Health-Related Quality of Life in Patients with Multiple Endocrine Neoplasia Type 1
Author(s):
van Leeuwaarde R, Pieterman C, May A, Dekkers O, van der Horst-Schrivers A, Hermus A, de Herder W, Drent M, Bisschop P, Havekes B, Vriens M, Valk G
Affiliated Institution / ERN:
University Medical Center Utrecht ; Leiden University Medical Center ; University Medical Center Groningen ; Radboud University Medical Centre Nijmegen ; Erasmus MC: University Medical Center Rotterdam ; Amsterdam UMC ; Maastricht University Medical Center+ ;
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Neuroendocrinology v111.3 p288-296
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1159/000508374
Keywords:
Multiple endocrine neoplasia type 1,Quality of life,Short Form 36 questionnaire
Multiple Endocrine Neoplasia Type 1 and the Pancreas: Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome – An International Consensus Statement
Author(s):
Niederle B, Selberherr A, Bartsch DK, Brandi ML, Doherty GM, Falconi M, Goudet P, Halfdanarson TR, Ito T, Jensen RT, Larghi A, Lee L, Öberg K, Pavel M, Perren A, Sadowski SM, Tonelli F, Triponez F, Valk GD, O’Toole D, Scott-Coombes D, Thakker RV, Thompson GB, Treglia G, Wiedenmann B
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Neuroendocrinology v111.7 p609-630
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1159/000511791
Keywords:
Consensus statement,Diagnosis,Multiple endocrine neoplasia type 1,Neuroendocrine pancreatic tumors,Treatment
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes
Author(s):
Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, Rawlins E, Babiker T, Thomas NJ, De Franco E, Ellard S, Flanagan SE, Hattersley AT, Mohsin F, Cummings E, LeGault L, Punthakee Z, Van Der Meulen J, Codner E, Gallardo V, Rafiq M, Houghton J, Amratlal Patel K, Ford T, Kumaraguru Pillai J, Finn R, Chakera A, Raile K, Schebek M, Werner A, Jain V, Heffernan E, Iovane B, Russo L, De Galan B, Voorhoeve P, Njolstad P, Sulen A, Dankovcikova A, Gasperikova D, Stanik J, Aydin B, Bas F, Bundak R, Darendeliler F, Raceala-Motoc S, Sanchez JC, Bauer KE, Greeley KW
Affiliated Institution / ERN:
Meyer Children’s Hospital Florence ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Neonatal Diabetes
Publication:
Diabetes Care v44.1 p35-42
Year:
2021
ORPHAcode / other:
ORPHA224
Cortisol Circadian Rhythm and Insulin Resistance in Muscle: Effect of Dosing and Timing of Hydrocortisone Exposure on Insulin Sensitivity in Synchronized Muscle Cells
Author(s):
Negri M, Pivonello C, Simeoli C, Di Gennaro G, Venneri MA, Sciarra F, Ferrigno R, de Angelis C, Sbardella E, De Martino MC, Colao A, Isidori AM, Pivonello R
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Primary adrenal insufficiency
Publication:
Neuroendocrinology v111.10 p1005-1028
Year:
2021
ORPHAcode / other:
ORPHA101958
DOI:
10.1159/000512685
Keywords:
Adrenal insufficiency,Clock genes,Cortisol circadian rhythm,Insulin resistance
Educational and knowledge gaps within the European reference network on rare endocrine conditions
Author(s):
Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, Hiort O, Pereira AM
Affiliated Institution / ERN:
Condition / Disease:
Knowledge
Publication:
Endocrine Connections v10.1 p37-44
Year:
2021
ORPHAcode / other:
DOI:
10.1530/EC-20-0480
Keywords:
Endo-ERN,education,health care professionals,knowledge gaps,network,rare endocrine diseases
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry
Author(s):
Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJ, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; AOU-Bologna ; AOU Pisan ; Ghent University Hospital ; Erasmus MC: University Medical Center Rotterdam ; Leiden University Medical Center ; UMHAT “Sveta Marina” (Varna) ; Karolinska University Hospital ;
Condition / Disease:
Hypogonadism
Publication:
Sexual Development v15.4 p236-243
Year:
2021
ORPHAcode / other:
ORPHA174590; ORPHA98085
Congenital isolated central hypothyroidism: Novel mutations and their functional implications
Author(s):
Boelen A, van Trotsenburg AP, Fliers E
Affiliated Institution / ERN:
Condition / Disease:
Congenital central hypothyroidism
Publication:
Handbook of Clinical Neurology p161-169
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1016/B978-0-12-820107-7.00010-0
Keywords:
Coactivator,Corepressor,Hypothalamus,Hypothyroidism,Neonatal screening,Pituitary,TRH,TSH,Thyroid
Diabetes y HOMA-IR en la acromegalia
Author(s):
Biagetti B, Simó R
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Endocrinología, Diabetes y Nutrición v68.1 p1-2
Year:
2021
ORPHAcode / other:
ORPHA963
Cardiovascular effects of overt and subclinical hyperthyroidism: focus on differentiated thyroid cancer
Author(s):
Links TP, van der Boom T, Zandee WT, Lefrandt JD
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrine Connections v10.1 pR43-R51
Year:
2021
ORPHAcode / other:
ORPHA146
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
Impaired neuropsychological functioning in patients with hypopituitarism
Author(s):
Slagboom TNA, Deijen JB, Van Bunderen CC, Knoop HA, Drent ML
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Hypopituitarism
Publication:
Endocrinology, Diabetes & Metabolism v4.1
Year:
2021
ORPHAcode / other:
ORPHA95502; ORPHA95488;
DOI:
10.1002/edm2.165
Keywords:
cognition,executive function,hypopituitarism,information processing,memory,neuropsychology,pituitary
Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the <b><i>THRB</i></b> Gene Causing Resistance to Thyroid Hormone Syndrome
Author(s):
Campi I, Agostini M, Marelli F, de Filippis T, Romartinez-Alonso B, Rajanayagam O, Rurale G, Gentile I, Spagnolo F, Andreasi M, Ferraù F, Cannavò S, Fugazzola L, Chatterjee KV, Persani L
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease:
Resistance to thyroid hormone beta
Publication:
European Thyroid Journal v10.6 p533-541
Year:
2021
ORPHAcode / other:
ORPHA566243
DOI:
10.1159/000519748
Keywords:
Anti-T4 antibodies,Central hyperthyroidism,Nodular goiter,RTHβ,THRB
Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study
Author(s):
Hebenstreit D, Ahmed SF, Krone N, Krall C, Bryce J, Alvi S, Ortolano R, Lima M, Birkebaek N, Bonfig W, Claahsen van der Grinten H, Costa EC, Poyrazoglu S, de Vries L, Flück CE, Guran T, Bugrul F, Güven A, Iotova V, Koehler B, Schröder J, Konrad D, Gevers E, Krone R, Milenkovic T, Vieites A, Ross R, Tadokoro Cuccaro R, Hughes I, Acerini C, Springer A
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; Sestre milosrdnice University Hospital Center ; AO City of Health and Science - Turin ; Assistance Publique-Hôpitaux de Marseille ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Sexual Development v15.4 p229-235
Year:
2021
ORPHAcode / other:
ORPHA418
DOI:
10.1159/000517055
Keywords:
Congenital adrenal hyperplasia,Disorders of sexual development,Intersex,Surgery
Quality of Life in Patients with Neuroendocrine Neoplasms: The Role of Severity, Clinical Heterogeneity, and Resilience
Author(s):
Scandurra C, Modica R, Maldonato NM, Dolce P, Dipietrangelo GG, Centello R, Di Vito V, Bottiglieri F, de Cicco F, Giannetta E, Isidori AM, Lenzi A, Muzii B, Faggiano A, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Neuroendocrine Neoplasm
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.1 pe316-e327
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.1210/clinem/dgaa760
Keywords:
heterogeneity,metastases,neuroendocrine tumor,quality of life,resilience,severity
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
Craniopharyngioma in the Elderly: A Multicenter and Nationwide Study in Spain
Author(s):
Iglesias P, Nocete I, Moure Rodríguez MD, Venegas-Moreno E, Ares J, Biagetti B, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Villar-Taibo R, Cordido F, Paja M, Glerean M, González Rivera N, Dios Fuentes E, Blanco C, Alvaréz-Escolá C, Martín T, Webb SM, Bernabéu I, Villabona C, Soto-Moreno A, Gaztambide S, Díez JJ
Affiliated Institution / ERN:
Condition / Disease:
Craniopharyngioma
Publication:
Neuroendocrinology v111.10 p925-936
Year:
2021
ORPHAcode / other:
ORPHA54595
DOI:
10.1159/000512161
Keywords:
Craniopharyngioma,Diabetes insipidus,Elderly,Hypopituitarism,Neurosurgery,Therapeutic outcome,Visual field defects
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:
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
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