Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Patient’s view on better care
Author(s):
Beun, Kristensen, Brosamle,van den Berg
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Rare endocrine disease: Still a long and a winding road
Author(s):
Sebastiano Filetti
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
New genetics in congenital hypothyrodism
Author(s):
Stoupa A, Polak M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
Author(s):
Nicole Reisch, Hanna Nowotny, Faisal Ahmed, Sophie Bensing, Johan G Beun, Manuela Brösamle, Irina Chifu, Hedi Claahsen-van der Grinten, Maria Clemente, Henrik Falhammar, Stefanie Hahner, Eystein Husebye, Jette Kristensen, Paola Loli, Svetlana Lajic
Affiliated Institution / ERN:
Bergen Hospital Trust ;
Condition / Disease:
Adrenal Insufficiency
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA101958; ORPHA101959; ORPHA418;
DOI:
10.1007/s12020-021-02649-6
Keywords:
Adrenal crisis; Adrenal insufficiency; Congenital adrenal hyperplasia; Glucocorticoid replacement; Hydrocortisone; Stress instructions;
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment
Author(s):
van Geest F, Groeneweg S, Visser E
Affiliated Institution / ERN:
Condition / Disease:
MCT8 deficiency
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA101952
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
Author(s):
Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, Tillmann V, Pereira AM, Hiort O
Affiliated Institution / ERN:
UMHAT “Sveta Marina” (Varna) ; Helsinki University Hospital (HUS) ; Leiden University Medical Center ; University Medical Centre Ljubljana ; Tartu University Hospital ; Universitätsklinikum Schleswig-Holstein ;
Condition / Disease:
Rare endocrine conditions
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA97978
DOI:
10.1007/s12020-021-02654-9
Keywords:
Education; Endo-ERN; European patient advocacy group; Parents/caregivers; Patients; Rare endocrine disease;
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
Author(s):
Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J
Affiliated Institution / ERN:
Condition / Disease:
Primary bilateral macronodular adrenal hyperplasia
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA189427
DOI:
10.1007/s12020-021-02645-w
Keywords:
ARMC5; Cushing syndrome; GPCR; PBMAH; Primary bilateral macronodular adrenal hyperplasia; illegitimate receptors;
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
Author(s):
Butz H, Blair J, Patócs A
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Endocrine tumour syndromes
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA100094
DOI:
10.1007/s12020-021-02636-x
Keywords:
Endocrine tumour syndromes; Genetic testing; Inherited tumour; Next-generation sequencing
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Author(s):
Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Hypercalcemia during pregnancy: management and outcomes for mother and child
Author(s):
Appelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, Winter EM
Affiliated Institution / ERN:
Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Aarhus University Hospital ;
Condition / Disease:
Primary hyperparathyroidism, Familial hypocalciuric hypercalcemia
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA405
DOI:
10.1007/s12020-021-02615-2
Keywords:
Familial hypocalciuric hypercalcemia; Hypercalcemia; Parathyromatosis; Pregnancy; Primary hyperparathyroidism;
Endo ERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
Author(s):
Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, Nordenström A
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Leiden University Medical Center ; Karolinska University Hospital ;
Condition / Disease:
Rare endocrine conditions
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA97978
DOI:
10.1007/s12020-021-02625-0
Keywords:
EndoERN, Quality of life; Patient perception; Quality of care; Rare endocrine diseases; Survey;
The clinical aspects of pituitary tumour genetics
Author(s):
Dénes J, Korbonits M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research
Author(s):
de Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, Cools M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Year:
2021
ORPHAcode / other:
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group
Author(s):
Drewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, van Genechten D, Brandi M, Schaaf L
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
CPMS–improving patient care in Europe via virtual case discussions
Author(s):
Mönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, Johannsen TH, Juul A, Hiort O, Pereira AM
Affiliated Institution / ERN:
Condition / Disease:
CPMS
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s12020-021-02628-x
Keywords:
Clinical Patient Management System (CPMS); European Reference Network on Rare Endocrine Conditions (Endo-ERN); Health care inequalities; Virtual consultation;
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
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
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
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
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
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:
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;
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;
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: