Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Rare diseases caused by abnormal calcium sensing and signalling
Author(s):
Tőke J, Czirják G, Enyedi P, Tóth M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance
Author(s):
Geberhiwot T, Baig S, Obringer C, Girard D, Dawson C, Manolopoulos K, Messaddeq N, Bel Lassen P, Clement K, Tomlinson JW, Steeds RP, Dollfus H, Petrovsky N, Marion V
Affiliated Institution / ERN:
Condition / Disease:
Alström syndrome
Publication:
Diabetes v70.2 p364-376
Year:
2021
ORPHAcode / other:
ORPHA64
DOI:
10.2337/db20-0647
Keywords:
adipocyte-driven IR; obesity; AT-targeted; therapeutic strategies;diabetes;
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Author(s):
Reschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, Toni S, Szypowska A, Cardona-Hernandez R, Datz N, Klee K, Danne T
Affiliated Institution / ERN:
Hannoversche Kinderheilanstalt ; University Hospital of Padova ; Ulm University Medical Center ; Klinikum der Universität München ; Centre Hospitalier de Luxembourg ; Meyer Children’s Hospital Florence ; Sant Joan de Déu Hospital ;
Condition / Disease:
Wolfram Syndrome
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA3463
DOI:
10.1007/s12020-021-02622-3
Keywords:
Clinical research collaboration; ENDO-ERN; Monogenetic diabetes; Rare disease network; Wolfram syndrome; ENDO-ERN; Monogenetic diabetes; Rare disease network; Wolfram syndrome;
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
Author(s):
Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G
Affiliated Institution / ERN:
Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ;
Condition / Disease:
Pseudohypoparathyroidism, all known genes excluded (iPPSDx)
Publication:
European Journal of Endocrinology v184.2 p311-320
Year:
2021
ORPHAcode / other:
ORPHA97593
ENSAT registry-based randomized clinical trials for adrenocortical carcinoma
Author(s):
Crona J, Baudin E, Terzolo M, Chrisoulidou A, Angelousi A, Ronchi CL, Oliveira CL, Nieveen van Dijkum EJM, Ceccato F, Borson-Chazot F, Reimondo G, Tiberi GAM, Ettaieb H, Kiriakopoulos A, Canu L, Kastelan D, Osher E, Yiannakopoulou E, Arnaldi G, Assié G, Paiva I, Bourdeau I, Newell-Price J, Nowak KM, Romero MT, De Martino MC, Bugalho MJ, Sherlock M, Vantyghem M, Dennedy MC, Loli P, Rodien P, Feelders R, de Krijger R, Van Slycke S, Aylwin S, Morelli V, Vroonen L, Shafigullina Z, Bancos I, Trofimiuk-Müldner M, Quinkler M, Luconi M, Kroiss M, Naruse M, Igaz P, Mihai R, Della Casa S, Berruti A, Fassnacht M, Beuschlein F
Affiliated Institution / ERN:
Klinikum der Universität München ; Semmelweis University ; University Hospital Liège ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ; CHU d'Angers ; APDP – Diabetes Portugal ; AOU Federico II - Naples ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; AO City of Health and Science - Turin ; Máxima Medisch Centrum Veldhoven ; University Hospital of Padova ; Hospices Civils de Lyon ; Amsterdam UMC ; University Hospital Würzburg ; General Hospital of Athens “LAIKO” ; Complejo Hospitalario Regional Virgen del Rocio ; University Hospital Florence ; Beaumont & CHI - Dublin ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
European Journal of Endocrinology v184.2 pR51-R59
Year:
2021
ORPHAcode / other:
ORPHA1501
ESE audit on management of adult growth hormone deficiency in clinical practice
Author(s):
Martel-Duguech L, Jorgensen JOL, Korbonits M, Johannsson G, Webb SM, _ _, _ _, Adamidou F, Mintziori G, Arosio M, Giavoli C, Badiu C, Boschetti M, Ferone D, Ricci Bitti S, Brue T, Albarel F, Cannavo S, Martino G, Cotta OR, Carvalho D, Salazar D, Christ E, Debono M, Dusek T, García R, Ghigo E, Gasco V, Goth MI, Olah D, Kovacs L, Höybye C, Kocjan T, Mlekuš Kozamernik K, Kužma M, Medic Stojanoska M, Novak A, Miličević T, Pekic S, Milijic D, Perez Luis J, Pico A, Preda V, Raverot G, Borson-Chazot F, Rochira V, Monzani ML, Sandahl K, Tsagarakis S, Mitravela V, Zacharieva S, Zilatiene B, Verkauskiene R
Affiliated Institution / ERN:
Condition / Disease:
Growth Hormone Deficiency
Publication:
European Journal of Endocrinology v184.2 p321-332
Year:
2021
ORPHAcode / other:
ORPHA101957
Puberty and fertility in classic galactosemia
Author(s):
Flechtner I, Viaud M, Kariyawasam D, Perrissin-Fabert M, Bidet M, Bachelot A, Touraine P, Labrune P, de Lonlay P, Polak M
Affiliated Institution / ERN:
Hospital Universitario Cruces ; ERN BOND ;
Condition / Disease:
Galactosemia
Publication:
Endocrine Connections v10.2 p240-247
Year:
2021
ORPHAcode / other:
ORPHA352
Real-World Performance of the American Thyroid Association Risk Estimates in Predicting 1-Year Differentiated Thyroid Cancer Outcomes: A Prospective Multicenter Study of 2000 Patients
Author(s):
Grani G, Zatelli MC, Alfò M, Montesano T, Torlontano M, Morelli S, Deandrea M, Antonelli A, Francese C, Ceresini G, Orlandi F, Maniglia CA, Bruno R, Monti S, Santaguida MG, Repaci A, Tallini G, Fugazzola L, Monzani F, Giubbini R, Rossetto R, Mian C, Crescenzi A, Tumino D, Pagano L, Pezzullo L, Lombardi CP, Arvat E, Petrone L, Castagna MG, Spiazzi G, Salvatore D, Meringolo D, Solaroli E, Monari F, Magri F, Triggiani V, Castello R, Piazza C, Rossi R, Ferraro Petrillo U, Filetti S, Durante C
Affiliated Institution / ERN:
AOU Policlinico Umberto I - Rome ; AOU - Ferrara ; AO City of Health and Science - Turin ; AOU Pisan ; AOU-Bologna ; AOU Federico II - Naples ; AOUI Verona ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Thyroid v31.2 p264-271
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1089/thy.2020.0272
Keywords:
clinical practice,differentiated thyroid cancer,evidence-based guidelines,risk stratification
Characterization with hybrid imaging of cystic pheochromocytomas: correlation with pathology
Author(s):
Galatola R, Romeo V, Simeoli C, Guadagno E, Rosa ID, Basso L, Mainolfi C, Klain M, Nicolai E, Colao A, Maurea S, Salvatore M
Affiliated Institution / ERN:
National Institute of Children's Diseases ;
Condition / Disease:
Cystic pheochromocytomas
Publication:
Quantitative Imaging in Medicine and Surgery v11.2 p862-869
Year:
2021
ORPHAcode / other:
ORPHA573163
Levoketoconazole improves clinical signs and symptoms and patient-reported outcomes in patients with Cushing’s syndrome
Author(s):
Geer EB, Salvatori R, Elenkova A, Fleseriu M, Pivonello R, Witek P, Feelders RA, Bex M, Borresen SW, Puglisi S, Biller BMK, Cohen F, Pecori Giraldi F
Affiliated Institution / ERN:
AOU Federico II - Naples ; Evangelismos General Hospital ;
Condition / Disease:
Cushing’s Syndrome
Publication:
Pituitary v24.1 p104-115
Year:
2021
ORPHAcode / other:
ORPHA553
DOI:
10.1007/s11102-020-01103-6
Keywords:
Cushing’s disease,Cushing’s syndrome,Hypercortisolism,Quality of life,Steroidogenesis inhibitor
Socioeconomic status in patients with Turner syndrome
Author(s):
Noordman ID, van der Velden JA, Timmers HJ, Reisch N, Richter-Unruh A, Pienkowksi C, Roeleveld N, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Klinikum der Universität München ; Katholisches Klinikum Bochum ; CHU de Toulouse ;
Condition / Disease:
45,X
Publication:
Comprehensive Psychoneuroendocrinology v5 p100030
Year:
2021
ORPHAcode / other:
ORPHA881
Assessing the health-related management of people with differences of sex development
Author(s):
Jürgensen M, Rapp M, Döhnert U, Frielitz F, Ahmed F, Cools M, Thyen U, Hiort O
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity
Author(s):
De Groot CJ, Poitou Bernert C, Coupaye M, Clement K, Paschou SA, Charmandari E, Kanaka-Gantenbein C, Wabitsch M, Buddingh EP, Nieuwenhuijsen B, Marina L, Johannsson G, Van Den Akker ELT
Affiliated Institution / ERN:
Condition / Disease:
Genetic Obesity
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA77828
DOI:
10.1007/s12020-021-02619-y
Keywords:
COVID-19; Genetic obesity; Monogenic obesity; Obesity syndrome; SARS-CoV-2;
Endo-ERN expert opinion on the differential diagnosis of pubertal delay
Author(s):
Persani L, Bonomi M, Cools M, Dattani M, Dunkel L, Gravholt CH, Juul A
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism; Rare disorder with hypergonadotropic hypogonadism;
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA174590; ORPHA181441;
DOI:
10.1007/s12020-021-02626-z
Keywords:
Constitutional delay of growth and puberty; Gonadal dysgenesis; Hypogonadism; Primary ovarian insufficiency; Pubertal delay; Sex steroid priming;
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model
Author(s):
Ali SR, Bryce J, Smythe C, Hytiris M, Priego AL, Appelman-Dijkstra NM, Ahmed SF
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Primary Neuroendocrine Neoplasms of the Breast: Still Open Issues
Author(s):
Gallo M, Campione S, Di Vito V, Fortunati N, Lo Calzo F, Messina E, Ruggeri RM, Faggiano A, Colao AAL
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; AOU Federico II - Naples ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease:
Neuroendocrine Neoplasm
Publication:
Frontiers in Endocrinology v11
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.3389/fendo.2020.610230
Keywords:
breast cancer,breast carcinoma,breast neuroendocrine neoplasms,neuroendocrine,review
The Management of Neuroendocrine Tumors of the Lung in MEN1: Results From the Dutch MEN1 Study Group
Author(s):
van den Broek MFM, de Laat JM, van Leeuwaarde RS, van de Ven AC, de Herder WW, Dekkers OM, Drent ML, Kerstens MN, Bisschop PH, Havekes B, Hackeng WM, Brosens LAA, Vriens MR, Buikhuisen WA, Valk GD
Affiliated Institution / ERN:
University Medical Center Utrecht ; Radboud University Medical Centre Nijmegen ; Leiden University Medical Center ; Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ; Maastricht University Medical Center+ ;
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.2 pe1014-e1027
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1210/clinem/dgaa800
Keywords:
lung NET,multiple endocrine neoplasia type 1,surveillance,survival,tumor growth
Serum insulin-like factor 3 quantification by LC–MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome
Author(s):
Johannsen TH, Ljubicic ML, Young J, Trabado S, Petersen JH, Linneberg A, Albrethsen J, Juul A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line
Author(s):
Debo B, Van Loocke M, De Groote K, De Leenheer E, Cools M
Affiliated Institution / ERN:
Ghent University Hospital ;
Condition / Disease:
Other
Publication:
International Journal of Environmental Research and Public Health v18.3 p917
Year:
2021
ORPHAcode / other:
ORPHA325546
DOI:
10.3390/ijerph18030917
Keywords:
45,X/46,XY mosaicism,Turner syndrome,germ cell cancer,growth hormone,sex chromosomal mosaicism
Introduction to Endo-ERN–scope and mission
Author(s):
Pereira AM, Hiort O
Affiliated Institution / ERN:
Condition / Disease:
Endo-ERN
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA97978
An Innovative Approach to Designing Digital Health Solutions Addressing the Unmet Needs of Obese Patients in Europe
Author(s):
Patalano R, De Luca V, Vogt J, Birov S, Giovannelli L, Carruba G, Pivonello C, Stroetmann V, Triassi M, Colao A, Illario M
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Obesity
Publication:
International Journal of Environmental Research and Public Health v18.2 p579
Year:
2021
ORPHAcode / other:
5B81.00
DOI:
10.3390/ijerph18020579
Keywords:
Europe,digital health,healthy food,healthy life,nutrition,obese patients,obesity
Corticotroph tumor progression after bilateral adrenalectomy (Nelson’s syndrome): systematic review and expert consensus recommendations
Author(s):
Reincke M, Albani A, Assie G, Bancos I, Brue T, Buchfelder M, Chabre O, Ceccato F, Daniele A, Detomas M, Di Dalmazi G, Elenkova A, Findling J, Grossman AB, Gomez-Sanchez CE, Heaney AP, Honegger J, Karavitaki N, Lacroix A, Laws ER, Losa M, Murakami M, Newell-Price J, Pecori Giraldi F, Pérez‐Rivas LG, Pivonello R, Rainey WE, Sbiera S, Schopohl J, Stratakis CA, Theodoropoulou M, van Rossum EFC, Valassi E, Zacharieva S, Rubinstein G, Ritzel K
Affiliated Institution / ERN:
Klinikum der Universität München ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Assistance Publique-Hôpitaux de Marseille ; University Hospital of Padova ; University Hospital Würzburg ; AOU-Bologna ; San Raffaele hospital - Milan ; IRCCS Auxologico Italian Institute - Milan ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ; Hospital de la Santa Creu i Sant Pau ;
Condition / Disease:
Cushing disease
Publication:
European Journal of Endocrinology v184.3 pP1-P16
Year:
2021
ORPHAcode / other:
ORPHA96253
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1
Author(s):
Sotiridou E, Hoermann H, Aftab S, Dastamani A, Thimm E, Doodson L, Batzios S, Kummer S, Shah P
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
Endocrinology, Diabetes & Metabolism Case Reports v2021
Year:
2021
ORPHAcode / other:
ORPHA165985
Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity
Author(s):
Jauregibeitia I, Portune K, Gaztambide S, Rica I, Tueros I, Velasco O, Grau G, Martín A, Castaño L, Larocca AV, Di Nolfo F, Ferreri C, Arranz S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; CHU de Toulouse ;
Condition / Disease:
Obesity
Publication:
Metabolites v11.1 p43
Year:
2021
ORPHAcode / other:
5B81.00
DOI:
10.3390/metabo11010043
Keywords:
lipid metabolism,mature erythrocyte,obesity,precision nutrition
The opera prevention project
Author(s):
Muscogiuri G, Barrea L, Laudisio D, Pugliese G, Aprano S, Framondi L, Di Matteo R, Riccio PA, Savastano S, Colao A
Affiliated Institution / ERN:
Condition / Disease:
Obesity
Publication:
International Journal of Food Sciences and Nutrition v72.1 p1-3
Year:
2021
ORPHAcode / other:
5B81.00
DOI:
10.1080/09637486.2020.1765152
Keywords:
Obesity,lifestyle,nutrition,physical activity,prevention
GH/IGF-1 Abnormalities and Muscle Impairment: From Basic Research to Clinical Practice
Author(s):
Biagetti B, Simó R
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
International Journal of Molecular Sciences v22.1 p415
Year:
2021
ORPHAcode / other:
ORPHA963
Nutritional status and follicular-derived thyroid cancer: An update
Author(s):
Barrea L, Gallo M, Ruggeri RM, Giacinto PD, Sesti F, Prinzi N, Adinolfi V, Barucca V, Renzelli V, Muscogiuri G, Colao A, Baldelli R
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Critical Reviews in Food Science and Nutrition v61.1 p25-59
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1080/10408398.2020.1714542
Keywords:
Follicular thyroid cancer,dietary factors,dietary pattern,nutritional factors,nutritionist,obesity
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