Endo-ERN Publications Database
895 publication(s) found matching the search criteria
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
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
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
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
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
What microRNAs could tell us about the human X chromosome
Author(s):
Di Palo A, Siniscalchi C, Salerno M, Russo A, Gravholt CH, Potenza N
Affiliated Institution / ERN:
Condition / Disease:
Turner's Syndrome; Klinefelter Syndrome;
Publication:
Cellular and Molecular Life Sciences v77.20 p4069-4080
Year:
2020
ORPHAcode / other:
ORPHA881; LD50.3;
DOI:
10.1007/s00018-020-03526-7
Keywords:
Klinefelter syndrome,Turner syndrome,X chromosome,microRNA
The IGF2 methylation score for adrenocortical cancer: an ENSAT validation study
Author(s):
Creemers SG, Feelders RA, Valdes N, Ronchi CL, Volante M, van Hemel BM, Luconi M, Ettaieb MHT, Mannelli M, Chiara MD, Fassnacht M, Papotti M, Kerstens MN, Nesi G, Haak HR, van Kemenade FJ, Hofland LJ
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Würzburg ; AO City of Health and Science - Turin ; University Medical Center Groningen ; University Hospital Florence ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
Endocrine-Related Cancer v27.10 p541-550
Year:
2020
ORPHAcode / other:
ORPHA1501
DOI:
10.1530/ERC-19-0378
Keywords:
DNA methylation,IGF2 methylation score,adrenocortical carcinoma,biomarker
New national recommendations for the treatment of pediatric differentiated thyroid carcinoma in the Netherlands
Author(s):
Lebbink CA, Dekker BL, Bocca G, Braat AJAT, Derikx JPM, Dierselhuis MP, de Keizer B, Kruijff S, Kwast ABG, van Nederveen FH, Nieveen van Dijkum EJM, Nievelstein RAJ, Peeters RP, Terwisscha van Scheltinga CEJ, Tissing WJE, van der Tuin K, Vriens MR, Zsiros J, van Trotsenburg ASP, Links TP, van Santen HM
Affiliated Institution / ERN:
University Hospital Florence ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
European Journal of Endocrinology v183.4 pP11-P18
Year:
2020
ORPHAcode / other:
ORPHA146
Permanent postoperative hypoparathyroidism: an analysis of prevalence and predictive factors for adequacy of control in a cohort of 260 patients
Author(s):
Díez JJ, Anda E, Sastre J, Pérez Corral B, Álvarez-Escolá C, Manjón L, Paja M, Sambo M, Santiago Fernández P, Blanco Carrera C, Galofré JC, Navarro E, Zafón C, Sanz E, Oleaga A, Bandrés O, Donnay S, Megía A, Picallo M, Sánchez Ragnarsson C, Baena-Nieto G, Fernández-García JC, Lecumberri B, Sahún de la Vega M, Romero-Lluch AR, Iglesias P
Affiliated Institution / ERN:
Condition / Disease:
Hypoparathyroidism
Publication:
Gland Surgery v9.5 p1380-1388
Year:
2020
ORPHAcode / other:
5A50
DOI:
10.21037/gs-20-288
Keywords:
Permanent hypoparathyroidism,adequacy of control,parathyroid hormone (PTH),thyroidectomy
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Author(s):
Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N, Bisseling T, Bubien V, Caux F, Chabbert-Buffet N, Colas C, Da Mota Gomes S, Gotthardt M, Hoogerbrugge N, Kets M, Lachlan KL, Links TP, Longy M, Mann R, Pouwels S, Kool LS, Semple RK, Stock I, Tischkowitz M, Vos J, Hoogerbrugge N, Ligtenberg M, Oostenbrink R, Sijmons R, Evans G, Woodward E, Tischkowitz M, Maher E, Ferner RE, Aretz S, Spier I, Steinke-Lange V, Holinski-Feder E, Schröck E, Frebourg T, Houdayer C, Colas C, Wolkenstein P, Bours V, Legius E, Poppe B, Claes K, de Putter R, Guillermo IB, Capella G, Vidal JB, Lázaro C, Balmaña J, Hernandez HS, Oliveira C, Teixeira M, Bajalica-Lagercrantz S, Tham E, Lubinski J, Ertmanska K, Melegh B, Krajc M, Blatnik A, Peltonen S, Hietala M
Affiliated Institution / ERN:
ERN BOND ; ERN BOND ; ERN BOND ;
Condition / Disease:
PTEN hamartoma tumour syndrome
Publication:
European Journal of Human Genetics v28.10 p1387-1393
Year:
2020
ORPHAcode / other:
ORPHA306498
Ki67 in endocrine neoplasms: to count or not to count, this is the question! A systematic review from the English language literature
Author(s):
Guadagno E, D’Avella E, Cappabianca P, Colao A, Del Basso De Caro M
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Neuroendocrine neoplasm
Publication:
Journal of Endocrinological Investigation v43.10 p1429-1445
Year:
2020
ORPHAcode / other:
ORPHA877
Germinal defects of SDHx genes in patients with isolated pituitary adenoma
Author(s):
Mougel G, Lagarde A, Albarel F, Essamet W, Luigi P, Mouly C, Vialon M, Cuny T, Castinetti F, Saveanu A, Brue T, Barlier A, Romanet P
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
European Journal of Endocrinology v183.4 p369-379
Year:
2020
ORPHAcode / other:
ORPHA99408
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
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
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
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
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
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
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
Author(s):
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S
Affiliated Institution / ERN:
Hospital Universitario Cruces ; ERN BOND ;
Condition / Disease:
Hypomagnesemia
Publication:
PLOS ONE v15.9 pe0239965
Year:
2020
ORPHAcode / other:
ORPHA93603
Neonatal Diabetes Mellitus
Author(s):
Beltrand J, Busiah K, Vaivre-Douret L, Fauret AL, Berdugo M, Cavé H, Polak M
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Neonatal Diabetes Mellitus
Publication:
Frontiers in Pediatrics v8
Year:
2020
ORPHAcode / other:
ORPHA224
DOI:
10.3389/fped.2020.540718
Keywords:
ABCC8,KCNJ11 (Kir6.2),associated malformations,chromosome 6q24 abnormality,neonatal diabetes mellitus,neuropsychological disorder,sulfonylurea receptor (SUR1)
Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia
Author(s):
Salma R Ali, Jillian Bryce, Houra Haghpanahan, James D Lewsey, Li En Tan, Navoda Atapattu, Niels H Birkebaek, Oliver Blankenstein, Uta Neumann, Antonio Balsamo, Rita Ortolano, Walter Bonfig, Hedi L Claahsen-van der Grinten, Martine Cools, Eduardo Correa Costa, Feyza Darendeliler, Sukran Poyrazoglu, Heba Elsedfy, Martijn J J Finken, Christa E Fluck, Evelien Gevers, Márta Korbonits, Guilherme Guaragna-Filho, Tulay Guran, Ayla Guven, Sabine E Hannema, Claire Higham, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Nils P Krone, Ruth Krone, Corina Lichiardopol, Andrea Luczay, Berenice B Mendonca, Tania A S S Bachega, Mirela C Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Silvia Einaudi, Hetty van der Kamp, Ana Vieites, Liat de Vries, Richard J M Ross, S Faisal Ahmed
Affiliated Institution / ERN:
Condition / Disease:
Congenital adrenal hyperpasia
Publication:
The Journal of Clinical Endocrinology & Metabolism 2020 Sep 29;dgaa694. doi: 10.1210/clinem/dgaa694
Year:
2020
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgaa694
Keywords:
21-hydroxylase deficiency; adrenal crisis; adrenal insufficiency; congenital adrenal hyperplasia; registry;
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
Author(s):
Brachet C, Gernay C, Boros E, Soblet J, Vilain C, Heinrichs C
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism
Publication:
Journal of Pediatric Endocrinology and Metabolism v33.9 p1237-1240
Year:
2020
ORPHAcode / other:
ORPHA174590
Blood sampling for metanephrines comparing venipuncture vs. indwelling intravenous cannula in healthy subjects
Author(s):
Eijkelenkamp K, van Geel EH, Kerstens MN, van Faassen M, Kema IP, Links TP, van der Horst-Schrivers AN
Affiliated Institution / ERN:
University Hospital Essen ; Ulm University Medical Center ;
Condition / Disease:
Pheochromocytoma and paraganglioma
Publication:
Clinical Chemistry and Laboratory Medicine (CCLM) v58.10 p1681-1686
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.1515/cclm-2020-0022
Keywords:
blood sampling condition,paraganglioma,pheochromocytoma,plasma-free metanephrines
Development and Internal Validation of a Multivariable Prediction Model for Adrenocortical-Carcinoma-Specific Mortality
Author(s):
Ettaieb MHT, van Kuijk SMJ, de Wit-Pastoors A, Feelders RA, Corssmit EPM, Eekhoff EMW, van der Valk P, Timmers HJLM, Kerstens MN, Klümpen H, van Leeuwaarde RS, Havekes B, Haak HR
Affiliated Institution / ERN:
Máxima Medisch Centrum Veldhoven ; Maastricht University Medical Center+ ; Leiden University Medical Center ; Amsterdam UMC ; Radboud University Medical Centre Nijmegen ; University Medical Center Groningen ; University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
Cancers v12.9 p2720
Year:
2020
ORPHAcode / other:
ORPHA1501
Consensus clinical management guidelines for Alström syndrome
Author(s):
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C Han, Francesca Favaretto, Shyam C Madathil, Charlotte Dawson, Matthew J Armstrong, Adrian T Warfield, Selma Düzenli, Clair A Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett & Tarekegn Geberhiwot
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases 15, Article number: 253 (2020)
Year:
2020
ORPHAcode / other:
Surgery for multiple endocrine neoplasia type 1-related insulinoma: long-term outcomes in a large international cohort
Author(s):
Beek DJ, Nell S, Verkooijen HM, Borel Rinkes IHM, Valk GD, Vriens MR, Goudet P, Vella A, Donegan D, Bartsch DK, Manoharan J, Perrier ND, Christakis I, Brandi ML, Zarnegar R, Postma EL, Kebebew E, Nockel P, Brunaud L, Pasternak JD, Kluijfhout WP, Sturgeon C, Giri S, Bonsing BA, Eijck CH, Goor H, Kleine RHJ, Dijkum EJN, Dejong CHC
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
British Journal of Surgery v107.11 p1489-1499
Year:
2020
ORPHAcode / other:
ORPHA652