Endo-ERN Publications Database
940 publication(s) found matching the search criteria
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
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
Author(s):
Bergen DJ, Maurizi A, Formosa MM, McDonald GL, El-Gazzar A, Hassan N, Brandi M, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication:
Journal of Bone and Mineral Research v38.2 p229-247
Year:
2020
ORPHAcode / other:
DOI:
10.1002/jbmr.4715
Keywords:
ANABOLICS,ANIMAL MODELS,CELL/TISSUE SIGNALING,DISEASES AND DISORDERS OF/RELATED TO BONE,GENETIC ANIMAL MODELS,GENETIC RESEARCH,PARACRINE PATHWAYS,THERAPEUTICS
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
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
Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism
Author(s):
Roeper M, Salimi Dafsari R, Hoermann H, Mayatepek E, Kummer S, Meissner T
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA165985
DOI:
10.3389/fendo.2020.580642
Keywords:
brain injury,hyperinsulinism,hypoglycemia,neurodevelopment,outcome,risk factors
Procathepsin V Is Secreted in a TSH Regulated Manner from Human Thyroid Epithelial Cells and Is Accessible to an Activity-Based Probe
Author(s):
Al-Hashimi A, Venugopalan V, Rehders M, Sereesongsaeng N, Hein Z, Springer S, Weber E, Führer D, Bogyo MS, Scott CJ, Burden RE, Brix K
Affiliated Institution / ERN:
Condition / Disease:
Thyroid hormone metabolism
Publication:
International Journal of Molecular Sciences v21.23 p9140
Year:
2020
ORPHAcode / other:
DOI:
10.3390/ijms21239140
Keywords:
cysteine cathepsins,green fluorescent protein tagging,protein trafficking,secretion,thyroid epithelial cells,thyroid stimulating hormone
Hypertension in Acromegaly in Relationship to Biochemical Control and Mortality: Global ACROSTUDY Outcomes
Author(s):
Vila G, Luger A, van der Lely AJ, Neggers SJCMM, Webb SM, Biller BMK, Valluri S, Hey-Hadavi J
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Hospital de la Santa Creu i Sant Pau ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2020.577173
Keywords:
acromegaly,cardiovascular disease,hypertension,hypopituitarism,mortality,pegvisomant,prognosis
The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes
Author(s):
Salma R Ali,Jillian Bryce, Li En Tan, Olaf Hiort, Alberto M Pereira,Erica L T van den Akker,Natasha M Appelman-Dijkstra,Jerome Bertherat,Martine Cools, Olaf M Dekkers,Yllka Kodra, Luca Persani, Arlene Smyth, Christopher Smythe, Domenica Taruscio and S Faisal Ahmed
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Ghent University Hospital ; IRCCS Auxologico Italian Institute - Milan ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Rare Endocrine Conditions
Publication:
International Journal of Environmental Research and Public Health Volume 17 / Issue 23 / 10.3390/ijerph17238743
Year:
2020
ORPHAcode / other:
ORPHA97978
DOI:
10.3390/ijerph17238743
Keywords:
European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
Editorial: Current Clinical and Pre-Clinical Progress in Cushing’s Disease
Author(s):
Stalla GK, Arzt E, Losa M, Renner U
Affiliated Institution / ERN:
Condition / Disease:
Cushing disease
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA96253
DOI:
10.3389/fendo.2020.612321
Keywords:
Cushing’s disease,Cushing’s syndrome,diagnostic score,drug targets,medical therapy,quality of life
Thyroidectomy in Pediatric Patients with Graves’ Disease: A Systematic Review of Postoperative Morbidity
Author(s):
Zaat AS, Derikx JP, Zwaveling-Soonawala N, van Trotsenburg AP, Mooij CF
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
European Thyroid Journal p1-13
Year:
2020
ORPHAcode / other:
ORPHA525731
DOI:
10.1159/000511345
Keywords:
Graves' disease,Pediatric Graves' disease,Postoperative morbidity,Thyroidectomy
Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity
Author(s):
Jauregibeitia I, Portune K, Rica I, Tueros I, Velasco O, Grau G, Trebolazabala N, Castaño L, Larocca AV, Ferreri C, Arranz S
Affiliated Institution / ERN:
Hospital Universitario Cruces ; AOU-Bologna ;
Condition / Disease:
Childhood obesity
Publication:
Nutrients v12.11 p3446
Year:
2020
ORPHAcode / other:
5B81.00
DOI:
10.3390/nu12113446
Keywords:
childhood obesity,inflammation,membrane lipidome,omega-6 fatty acids,red blood cell
Plasma branched chain amino acids are lower in short-term profound hypothyroidism and increase in response to thyroid hormone supplementation
Author(s):
van der Boom T, Gruppen EG, Lefrandt JD, Connelly MA, Links TP, Dullaart RP
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Scandinavian Journal of Clinical and Laboratory Investigation v80.7 p562-566
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
10.1080/00365513.2020.1804610
Keywords:
Branched chain amino acids,cardiometabolic disease,differentiated thyroid carcinoma,hypothyroidism,thyroid-stimulating hormone
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Author(s):
García‐Castaño A, Perdomo‐Ramirez A, Vall‐Palomar M, Ramos‐Trujillo E, Madariaga L, Ariceta G, Claverie‐Martin F
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
FHHNC
Publication:
Molecular Genetics & Genomic Medicine v8.11
Year:
2020
ORPHAcode / other:
ORPHA306516
Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
Author(s):
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo A
Affiliated Institution / ERN:
Condition / Disease:
Von Hippel-Lindau disease
Publication:
Journal of Medical Genetics v57.11 p752-759
Year:
2020
ORPHAcode / other:
ORPHA892
MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity
Author(s):
Poitou C, Mosbah H, Clément K
Affiliated Institution / ERN:
Condition / Disease:
Genetic obesity
Publication:
European Journal of Endocrinology v183.5 pR149-R166
Year:
2020
ORPHAcode / other:
ORPHA77828
Inferior outcome of neuroendocrine tumor patients negative on somatostatin receptor imaging
Author(s):
Refardt J, Zandee WT, Brabander T, Feelders RA, Franssen GJH, Hofland LJ, Christ E, de Herder WW, Hofland J
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; ERN BOND ;
Condition / Disease:
Neuroendocrine Tumours
Publication:
Endocrine-Related Cancer v27.11 p615-624
Year:
2020
ORPHAcode / other:
ORPHA877
DOI:
10.1530/ERC-20-0340
Keywords:
neuroendocrine tumor,propensity score,somatostatin receptor,survival
Akt1 genetic variants confer increased susceptibility to thyroid cancer
Author(s):
Crezee T, Petrulea M, Piciu D, Jaeger M, Smit JWA, Plantinga TS, Georgescu CE, Netea-Maier R
Affiliated Institution / ERN:
Condition / Disease:
Non-medullary thyroid carcinoma
Publication:
Endocrine Connections v9.11 p1065-1074
Year:
2020
ORPHAcode / other:
ORPHA142
DOI:
10.1530/EC-20-0311
Keywords:
PI3K/Akt/mTOR,genetic variation,non-medullary thyroid cancer,susceptibility
Patient-Derived Papillary Thyroid Cancer Organoids for Radioactive Iodine Refractory Screening
Author(s):
Sondorp LH, Ogundipe VM, Groen AH, Kelder W, Kemper A, Links TP, Coppes RP, Kruijff S
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Cancers v12.11 p3212
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
10.3390/cancers12113212
Keywords:
RAI therapy,cancer stem cells,papillary thyroid carcinoma,patient-derived tumor organoids,three-dimensional culture,treatment prediction,tumor organoids
Advances in the Management of Medullary Thyroid Carcinoma: Focus on Peptide Receptor Radionuclide Therapy
Author(s):
Grossrubatscher E, Fanciulli G, Pes L, Sesti F, Dolci C, de Cicco F, Colao A, Faggiano A
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ;
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Journal of Clinical Medicine v9.11 p3507
Year:
2020
ORPHAcode / other:
ORPHA1332
DOI:
10.3390/jcm9113507
Keywords:
medullary thyroid carcinoma,neuroendocrine neoplasm,peptide receptor radionuclide therapy,somatostatin analogues
The Interplay Between Prolactin and Reproductive System: Focus on Uterine Pathophysiology
Author(s):
Auriemma RS, Del Vecchio G, Scairati R, Pirchio R, Liccardi A, Verde N, de Angelis C, Menafra D, Pivonello C, Conforti A, Alviggi C, Pivonello R, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Prolactinoma
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA2965
DOI:
10.3389/fendo.2020.594370
Keywords:
dopamine agonist therapy,endometriosis,fertility,prolactin,prolactinoma,uterine cancer,uterus (pathology)
Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy
Author(s):
Mirko Parasiliti-Caprino, Barbara Lucatello, Chiara Lopez, Jacopo Burrello, Francesca Maletta, Marinella Mistrangelo, Enrica Migliore, Francesco Tassone, Antonio La Grotta, Anna Pia, Giuseppe Reimondo, Roberta Giordano, Giuseppe Giraudo, Alessandro Piovesan, Giovannino Ciccone, Dèsirèe Deandreis, Paolo Limone, Fabio Orlandi, Giorgio Borretta, Marco Volante, Paolo Mulatero, Mauro Papotti, Gianluca Aimaretti, Massimo Terzolo, Mario Morino, Barbara Pasini, Franco Veglio, Ezio Ghigo, Emanuela Arvat & Mauro Maccario
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma
Publication:
Hypertension Research Volume 43, pages 500–510(2020)
Year:
2020
ORPHAcode / other:
ORPHA573163
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty
Author(s):
Mosbah H, Bouvattier C, Maione L, Trabado S, De Filippo G, Cartes A, Donzeau A, Chanson P, Brailly-Tabard S, Dwyer AA, Coutant R, Young J
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism
Publication:
Human Reproduction v35.10 p2312-2322
Year:
2020
ORPHAcode / other:
ORPHA174590
DOI:
10.1093/humrep/deaa185
Keywords:
GnRH,Kallmann syndrome,delayed puberty,gonadotropins,hypogonadism,inhibin B
Global longitudinal strain as a marker for systolic function in patients with pheochromocytomas
Author(s):
Elenkova A, Shabani R, Kinova E, Vasilev V, Goudev A, Zacharieva S
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma
Publication:
Endocrine-Related Cancer v27.10 p561-570
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.1530/ERC-20-0137
Keywords:
catecholamine-induced cardiomyopathy,global longitudinal strain,pheochromocytoma,strain echocardiography
HDAC Inhibition Induces PD-L1 Expression in a Novel Anaplastic Thyroid Cancer Cell Line
Author(s):
Hegedűs L, Rittler D, Garay T, Stockhammer P, Kovács I, Döme B, Theurer S, Hager T, Herold T, Kalbourtzis S, Bankfalvi A, Schmid KW, Führer D, Aigner C, Hegedűs B
Affiliated Institution / ERN:
Condition / Disease:
Anaplastic Thyroid Carcinoma
Publication:
Pathology & Oncology Research v26.4 p2523-2535
Year:
2020
ORPHAcode / other:
ORPHA142
DOI:
10.1007/s12253-020-00834-y
Keywords:
Anaplastic thyroid cancer,BRAF mutation,HDAC inhibition,Pleural effusion,TERT promoter mutation
Surgical Complications and Referral Patterns in 567 Patients with Differentiated Thyroid Cancer in the Northern Region of the Netherlands: A Population-Based Study Towards Clinical Management Implementation
Author(s):
van Dijk D, van Dijk BAC, Weistra A, Links TP, Plukker JTM
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Annals of Surgical Oncology v27.10 p3872-3881
Year:
2020
ORPHAcode / other:
ORPHA146
Expression of programmed death-ligand 1 (PD-L1) in human pituitary neuroendocrine tumor
Author(s):
Suteau V, Collin A, Menei P, Rodien P, Rousselet M, Briet C
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
Cancer Immunology, Immunotherapy v69.10 p2053-2061
Year:
2020
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s00262-020-02611-x
Keywords:
Clone 22C3,Immunohistochemistry,Immunotherapy,PD-L1,Pituitary neuroendocrine tumor
Discordant biological parameters of remission in acromegaly do not increase the risk of hypertension or diabetes: a study with the Liege Acromegaly Survey database
Author(s):
Amodru V, Petrossians P, Colao A, Delemer B, Maione L, Neggers S, Decoudier B, Kamenicky P, Castinetti F, Hana V, Pivonello R, Carvalho D, Brue T, Beckers A, Chanson P, Cuny T
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Endocrine v70.1 p134-142
Year:
2020
ORPHAcode / other:
ORPHA963