Endo-ERN Publications Database
925 publication(s) found matching the search criteria
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
Author(s):
Martos-Moreno GÃ, Rockman-Greenberg C, Ozono K, Petryk A, Kishnani PS, Dahir KM, Seefried L, Fang S, Högler W, Linglart A
Affiliated Institution / ERN:
Hôpital Bicêtre ;
Condition / Disease:
Hypophosphatasia
Publication:
Hormone Research in Paediatrics v97.3 p233-242
Year:
2024
ORPHAcode / other:
ORPHA436
DOI:
10.1159/000531865
Keywords:
Alkaline phosphatase,Disease burden,Enzyme replacement therapy,Hypophophatasia
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series
Author(s):
Jacobs A, Cifelli P, Delbeck D, Elbarbary N, Gevers E, Sumnik Z, Amaratunga SA, Pundziute Lyckå A, Casteels K
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
diabetes mellitus
Publication:
Hormone Research in Paediatrics p1-5
Year:
2024
ORPHAcode / other:
ORPHA101952
Primary Central Nervous System Lymphoma Mimicking the Presentation of Pituitary Apoplexy: A Case Report
Author(s):
Meira Goncalves J, Polónia P, Pereira J, Silva PA
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
Pituitary Apoplexy
Publication:
Cureus doi:10.7759/cureus.50912
Year:
2023
ORPHAcode / other:
ORPHA95613
DOI:
10.7759/cureus.50912
Keywords:
non-hodgkin’s lymphoma,pituitary apoplexy,primary central nervous system lymphoma (pcnsl),primary cns lymphoma,sellar
MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
Author(s):
Aiello F, Palumbo S, Cirillo G, Tornese G, Fava D, Wasniewska M, Faienza MF, Bozzola M, Luongo C, Festa A, Miraglia del Giudice E, Grandone A
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
MKRN3; central precocious puberty;
Publication:
Journal of Endocrinological Investigation v47.6 p1477-1485
Year:
2023
ORPHAcode / other:
ORPHA650182
DOI:
10.1007/s40618-023-02255-5
Keywords:
Central precocious puberty,Children,MKRN3,Molecular screening,Mutation screening,Serum MKRN3
Semaglutide and Cardiovascular Outcomes in Obesity without Diabetes
Author(s):
Lincoff AM, Brown-Frandsen K, Colhoun HM, Deanfield J, Emerson SS, Esbjerg S, Hardt-Lindberg S, Hovingh GK, Kahn SE, Kushner RF, Lingvay I, Oral TK, Michelsen MM, Plutzky J, Tornøe CW, Ryan DH
Affiliated Institution / ERN:
AOU - Ferrara ;
Condition / Disease:
obesity
Publication:
New England Journal of Medicine v389.24 p2221-2232
Year:
2023
ORPHAcode / other:
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
Author(s):
Cavarzere P, Pietrobelli A, Gandini A, Munari S, Baffico AM, Maffei M, Gaudino R, Guzzo A, Arrigoni M, Coviello D, Piacentini G, Antoniazzi F
Affiliated Institution / ERN:
AOUI Verona ; IRCCS Istituto Giannina Gaslini, Genova ;
Condition / Disease:
Laron syndrome
Publication:
Journal of Endocrinological Investigation v47.5 p1237-1250
Year:
2023
ORPHAcode / other:
ORPHA633
DOI:
10.1007/s40618-023-02243-9
Keywords:
Genetic analysis,Growth,Next-generation sequencing (NGS),Short stature (SS),Variants of uncertain significance (VUS)
Teplizumab and β-Cell Function in Newly Diagnosed Type 1 Diabetes
Author(s):
Ramos EL, Dayan CM, Chatenoud L, Sumnik Z, Simmons KM, Szypowska A, Gitelman SE, Knecht LA, Niemoeller E, Tian W, Herold KC
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ;
Condition / Disease:
diabetes type 1
Publication:
New England Journal of Medicine v389.23 p2151-2161
Year:
2023
ORPHAcode / other:
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
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
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;
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
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
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
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:
University Hospital Motol ; 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
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
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;
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:
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
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
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