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Endo-ERN Publications Database
1008 publication(s) found matching the search criteria
Machine learning techniques to predict the risk of developing diabetic nephropathy: a literature review
Author(s):
Mesquita F, Bernardino J, Henriques J, Raposo J, Ribeiro R, Paredes S
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
diabetic nephropathy
Publication:
Journal of Diabetes & Metabolic Disorders v23.1 p825-839
Year:
2023
ORPHAcode / other:
DOI:
10.1007/s40200-023-01357-4
Keywords:
Clinical data,Diabetic nephropathy,Kidney disease,Machine learning,Risk prediction
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation
Author(s):
Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
SBP2 defects - Rare thyroid signaling defect
Publication:
Nature Communications v14.1
Year:
2023
ORPHAcode / other:
ORPHA596426
Autonomously functioning thyroid nodules present intermediate malignancy risk according to European Thyroid Imaging Reporting and Data System (EU-TIRADS) and yield indeterminate cytology results
Author(s):
Aglaia Kyrilli, Nunzia Tacelli, Lucia Russo, Laetitia Lebrun, Isabelle Salmon, Gilles Russ, Rodrigo Moreno-Reyes, Bernard Corvilain
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease:
Thyroid nodules and cancer stratification
Publication:
Eur Thyroid J 2(6):e230135
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1530/ETJ-23-0135
Keywords:
utonomously functioning thyroid nodules, cytology; scintigraphy, thyroid cancer, ultrasound
Long-term surveillance of a Von Hippel-Lindau disease pituitary stalk hemangioblastoma
Author(s):
LOPES-PINTO M, LACERDA-NOBRE E, MARQUES P, BUGALHO MJ
Affiliated Institution / ERN:
Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease:
Von Hippel-Lindau
Publication:
Minerva Endocrinology v48.4
Year:
2023
ORPHAcode / other:
ORPHA892
Parathyroid cancer with MTOR gene mutation: Case report and review of the literature
Author(s):
Stark J, Tőke J, Huszty G, Nagy P, Bedics G, Bödör C, Tímár J, Tóth M
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Parathyroid carcinoma
Publication:
Annales d'Endocrinologie v84.6 p761-763
Year:
2023
ORPHAcode / other:
ORPHA143
Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out
Author(s):
Ludwik KA, Opitz R, Jyrch S, Megges M, Weiner J, Beule D, Kühnen P, Stachelscheid H
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
X-linked Allan-Herndon-Dudley syndrome
Publication:
Stem Cell Research v73 p103256
Year:
2023
ORPHAcode / other:
ORPHA59; ORPHA596426; ORPHA101955;
Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement
Author(s):
Petersenn S, Fleseriu M, Casanueva FF, Giustina A, Biermasz N, Biller BMK, Bronstein M, Chanson P, Fukuoka H, Gadelha M, Greenman Y, Gurnell M, Ho KKY, Honegger J, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Lodish M, Maiter D, Marcus HJ, McCormack A, Molitch M, Muir CA, Neggers S, Pereira AM, Pivonello R, Post K, Raverot G, Salvatori R, Samson SL, Shimon I, Spencer-Segal J, Vila G, Wass J, Melmed S
Affiliated Institution / ERN:
AOU Federico II - Naples ; Leiden University Medical Center ;
Condition / Disease:
Prolactinoma
Publication:
Nature Reviews Endocrinology v19.12 p722-740
Year:
2023
ORPHAcode / other:
ORPHA2965
Clinical Significance of T2-Weighted Sequence Intensity on Magnetic Resonance Imaging in Clinically Non-Functioning Pituitary Adenomas
Author(s):
Iglesias P, Biagetti B, Araujo-Castro M, Alcázar V, Guerrero-Pérez F, Rivero N, Casteràs A, Gómez CG, Izquierdo BG, Torres VV, Pascual-Corrales E, Pavón I, Villabona C, Cordido F, Díez JJ
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Pituitary adenomas
Publication:
Experimental and Clinical Endocrinology & Diabetes v131.12 p631-638
Year:
2023
ORPHAcode / other:
ORPHA963; ORPHA91349;
Subcentimetric Papillary Thyroid Carcinoma: Does the Diagnosis Kind Impact Prognosis?
Author(s):
Ramalho D, Teixeira E, Cueto R, Correia S, Rocha G, Oliveira MJ, Soares P, Póvoa AA
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
Papillary Thyroid Carcinoma
Publication:
Cureus doi:10.7759/cureus.49563
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.7759/cureus.49563
Keywords:
disease-free survival,papillary thyroid microcarcinoma,prognosis,recurrence,thyroid neoplasms
Prediction of classical versus non classical papillary thyroid carcinoma subtypes from cytology of nodules classified according to TIRADS
Author(s):
Scappaticcio L, Trimboli P, Bellastella G, Ferrazzano P, Clery E, Cozzolino I, Montella M, Fasano M, Pirozzi M, Ferrandes S, Docimo G, Ciardiello F, Franco R, Esposito K
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrine v84.2 p560-570
Year:
2023
ORPHAcode / other:
ORPHA146
Improved guidance is needed to optimise diagnostics and treatment of patients with thyroid cancer in Europe
Author(s):
de la Fouchardière C, Fugazzola L, Locati LD, Alvarez CV, Peeters RP, Camacho P, Simon IM, Jarząb B, Netea-Maier R
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Radboud University Medical Centre Nijmegen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrine v83.3 p585-593
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1007/s12020-023-03610-5
Keywords:
Diagnosis,Guidelines,Molecular testing,Real-world evidence,Thyroid cancer
Glycemic Control, Basal/Bolus Distribution, BMI and Meal Management in Children and Adolescents with Type 1 Diabetes and Advanced Hybrid Closed Loop
Author(s):
Piccini B, Felicioni M, Pessina B, Bertini M, Casalini E, Ceccotti C, Farina S, Ferrari M, Lenzi L, Monzali F, Toni S
Affiliated Institution / ERN:
Meyer Children’s Hospital Florence ;
Condition / Disease:
diabetes type 1
Publication:
Nutrients v15.23 p4875
Year:
2023
ORPHAcode / other:
DOI:
10.3390/nu15234875
Keywords:
advanced hybrid closed loop,body mass index,carbohydrate,glycemic control,pediatric diabetes
High Filamin a Expression in Adrenocortical Carcinomas Is Associated with a Favourable Tumour Behaviour: A European Multicentric Study
Author(s):
Catalano R, Altieri B, Angelousi A, Arosio M, Bravi F, Canu L, Croci GA, Detomas M, Esposito E, Ferrante E, Ferrero S, Fuss CT, Kaltsas G, Kimpel O, Landwehr L, Luconi M, Morelli V, Nesi G, Nozza E, Sbiera S, Serban AL, Ronchi CL, Mantovani G, Peverelli E
Affiliated Institution / ERN:
General Hospital of Athens “LAIKO” ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Adrenocortical carcinoma (ACC)
Publication:
International Journal of Molecular Sciences v24.23 p16573
Year:
2023
ORPHAcode / other:
ORPHA1501
DOI:
10.3390/ijms242316573
Keywords:
ACC prognostic factor,IGF2,adrenocortical carcinoma,filamin A,molecular marker
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project
Author(s):
S R Ali, J Bryce, A L Priego-Zurita, M Cherenko, C Smythe, T M de Rooij, M Cools, T Danne, H Katugampola, O M Dekkers, O Hiort, A Linglart, I Netchine, A Nordenstrom, P Attila, L Persani, N Reisch, A Smyth, Z Sumnik, D Taruscio, W E Visser, A M Pereira, N M Appelman-Dijkstra, S F Ahmed
Affiliated Institution / ERN:
Motol and Homolka University Hospital ; General Hospital of Athens “LAIKO” ; Hôpital Bicêtre ; Universitätsklinikum Schleswig-Holstein ; Klinikum der Universität München ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ;
Condition / Disease:
EuRRECa - registries
Publication:
Endocrine Connections 12(12):e230434
Year:
2023
ORPHAcode / other:
DOI:
10.1530/EC-23-0434
Keywords:
European Reference Networks, databases, Endo-ERN, rare conditions, rare diseases, registries
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review
Author(s):
Pellikaan K, Nguyen NQC, Rosenberg AGW, Coupaye M, Goldstone AP, Høybye C, Markovic T, Grugni G, Crinò A, Caixàs A, Poitou C, Corripio R, Nieuwenhuize RM, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Prader-Willi syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.12 pe1720-e1730
Year:
2023
ORPHAcode / other:
ORPHA739
DOI:
10.1210/clinem/dgad312
Keywords:
Prader-Willi syndrome,comorbidity,hypothalamo-hypophyseal system,neoplasms
Arginine or Hypertonic Saline–Stimulated Copeptin to Diagnose AVP Deficiency
Author(s):
Refardt J, Atila C, Chifu I, Ferrante E, Erlic Z, Drummond JB, Indirli R, Drexhage RC, Sailer CO, Widmer A, Felder S, Powlson AS, Hutter N, Vogt DR, Gurnell M, Soares BS, Hofland J, Beuschlein F, Fassnacht M, Winzeler B, Christ-Crain M
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
AVP Deficiency
Publication:
New England Journal of Medicine v389.20 p1877-1887
Year:
2023
ORPHAcode / other:
ORPHA101957; ORPHA30925;
Phase 3 Trial of Selpercatinib in Advanced RET -Mutant Medullary Thyroid Cancer
Author(s):
Hadoux J, Elisei R, Brose MS, Hoff AO, Robinson BG, Gao M, Jarzab B, Isaev P, Kopeckova K, Wadsley J, Führer D, Keam B, Bardet S, Sherman EJ, Tahara M, Hu MI, Singh R, Lin Y, Soldatenkova V, Wright J, Lin B, Maeda P, Capdevila J, Wirth LJ
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
Medullary Thyroid Cancer
Publication:
New England Journal of Medicine v389.20 p1851-1861
Year:
2023
ORPHAcode / other:
ORPHA1332
The adult growth hormone multicentric retrospective observational study: a 24-month Italian experience of adherence monitoring via Easypod™ of recombinant growth hormone treatment in adult GH deficiency
Author(s):
Mancini A, Vergani E, Bruno C, Giavoli C, Spaziani M, Isidori AM, Arosio M, Pontecorvi A
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Growth hormone deficiency (GHD)
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957
DOI:
10.3389/fendo.2023.1298775
Keywords:
IGF-1,adherence,compliance,e-health,growth hormone,personalized medicine
Inflammation-based scores in benign adrenocortical tumours are linked to the degree of cortisol excess: a retrospective single-centre study
Author(s):
Favero V, Prete A, Mangone A, Elhassan YS, Pucino V, Asia M, Hardy R, Chiodini I, Ronchi CL
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Adrenocortical carcinoma (ACC)
Publication:
European Journal of Endocrinology v189.5 p517-526
Year:
2023
ORPHAcode / other:
ORPHA1501
DOI:
10.1093/ejendo/lvad151
Keywords:
1 mg overnight dexamethasone suppression test,Cushing's syndrome,adrenocortical tumours,inflammation scores,mild autonomous cortisol secretion
Characteristics of specialists treating hypothyroid patients: the “THESIS” collaborative
Author(s):
Žarković M, Attanasio R, Nagy EV, Negro R, Papini E, Perros P, Cohen CA, Akarsu E, Alevizaki M, Ayvaz G, Bednarczuk T, Berta E, Bodor M, Borissova AM, Boyanov M, Buffet C, Burlacu M, Ćirić J, Díez JJ, Dobnig H, Fadeyev V, Field BCT, Fliers E, Frølich JS, Führer D, Galofré JC, Hakala T, Jiskra J, Kopp P, Krebs M, Kršek M, Kužma M, Lantz M, Lazúrová I, Leenhardt L, Luchytskiy V, McGowan A, Melo M, Metso S, Moran C, Morgunova T, Mykola T, Beleslin BN, Niculescu DA, Perić B, Planck T, Poiana C, Puga FM, Robenshtok E, Rosselet P, Ruchala M, Riis KR, Shepelkevich A, Unuane D, Vardarli I, Visser WE, Vrionidou A, Younes YR, Yurenya E, Hegedüs L
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
hypothyroidism
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
DOI:
10.3389/fendo.2023.1225202
Keywords:
Europe,endocrinologists,healthcare delivery,hypothyroidism,questionnaire
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism
Author(s):
Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
Normosmic congenital hypogonadotropic hypogonadism
Publication:
International Journal of Molecular Sciences v24.21 p15965
Year:
2023
ORPHAcode / other:
ORPHA432
DOI:
10.3390/ijms242115965
Keywords:
GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism
Author(s):
Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
hypogonadotropic hypogonadism; pituitary
Publication:
International Journal of Molecular Sciences v24.21 p15965
Year:
2023
ORPHAcode / other:
ORPHA478; ORPHA432
DOI:
10.3390/ijms242115965
Keywords:
GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary
Consensus on criteria for acromegaly diagnosis and remission
Author(s):
Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Acromegaly
Publication:
Pituitary doi:10.1007/s11102-023-01360-1
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-023-01360-1
Keywords:
Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria
Consensus on criteria for acromegaly diagnosis and remission
Author(s):
Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC
Affiliated Institution / ERN:
AOU Federico II - Naples ; San Raffaele hospital - Milan ; Erasmus MC: University Medical Center Rotterdam ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Acromegaly
Publication:
Pituitary doi:10.1007/s11102-023-01360-1
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-023-01360-1
Keywords:
Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria
Evaluation of Ex Vivo Adrenocorticotropic Hormone Responsiveness of Human Fetal Testis
Author(s):
Schröder MAM, Greenald D, Lodewijk R, van Herwaarden AE, Span PN, Sweep FCGJ, Mitchell RT, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrinology v164.12
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1210/endocr/bqad165
Keywords:
adrenocorticotropic hormone,congenital adrenal hyperplasia,human fetal testis,testicular adrenal rest tumors
Incidental versus symptomatic nonfunctioning pituitary adenomas: Are they different?
Author(s):
Guerreiro V, Mendonça F, Urbano Ferreira H, Freitas P, Pereira J, Bernardes I, Pinheiro J, Guimarães T, Carvalho D
Affiliated Institution / ERN:
Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease:
Pituitary adenoma
Publication:
Endocrinology, Diabetes & Metabolism v6.6
Year:
2023
ORPHAcode / other:
ORPHA99408
Changes in bone and mineral homeostasis after short-term androgen deprivation therapy with or without androgen receptor signalling inhibitor – substudy of a single-centre, double blind, randomised, placebo-controlled phase 2 trial
Author(s):
David K, Devos G, Narinx N, Antonio L, Devlies W, Deboel L, Schollaert D, Eisenhauer A, Cavalier E, Vanderschueren D, Claessens F, Joniau S, Decallonne B
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
PTH non-dependant hypercalcemia
Publication:
eBioMedicine v97 p104817
Year:
2023
ORPHAcode / other:
ORPHA68415; ORPHA405;
DOI:
10.1016/j.ebiom.2023.104817
Keywords:
Androgen deprivation therapy,Androgen receptor signalling inhibitor,Bone turnover marker,Prostate cancer,Stable calcium isotope
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
Author(s):
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A
Affiliated Institution / ERN:
CHU d'Angers ; Hôpital Bicêtre ;
Condition / Disease:
osteogenesis imperfecta, hypophosphatasia
Publication:
European Journal of Medical Genetics v66.11 p104856
Year:
2023
ORPHAcode / other:
ORPHA436; ORPHA666;
DOI:
10.1016/j.ejmg.2023.104856
Keywords:
Bone biopsy samples,Bone histomorphometry,Mineralization,Quantitative backscattered electron microscopy,Rare bone disorders,Therapy
Resumen ejecutivo del documento de consenso de expertos de la Sociedad Española de Neurocirugía y de la Sociedad Española de Endocrinología y Nutrición sobre: recomendaciones clínicas en el manejo perioperatorio de los tumores hipofisarios
Author(s):
Araujo-Castro M, Rodríguez-Berrocal V, Dios E, Serramito R, Biagetti B, Bernabeu I
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenomas
Publication:
Endocrinología, Diabetes y Nutrición v70.9 p592-608
Year:
2023
ORPHAcode / other:
ORPHA99408
Executive summary of the expert consensus document from the Spanish Society of Neurosurgery and the Spanish Society of Endocrinology and Nutrition: clinical recommendations on the perioperative management of pituitary tumors
Author(s):
Araujo-Castro M, Berrocal VR, Dios E, Serramito R, Biagetti B, Bernabeu I
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Pituitary adenomas
Publication:
Neurocirugía (English Edition) v34.6 p292-307
Year:
2023
ORPHAcode / other:
ORPHA99408
DOI:
10.1016/j.neucie.2023.07.007
Keywords:
Acromegalia,Acromegaly,Adenoma hipofisario no funcionante,Cirugía transesfenoidal,Cushing’s disease,Diabetes insipidus,Diabetes insípida,Déficit de vasopresina,Enfermedad de cushing,Hiponatremia,Hyponatremia,Non-functioning pituitary tumor,PITNET,Pituitary tumor,SIADH,Transsphenoidal surgery,Tumor hipofisario,Vasopressin deficiency
