Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Nutrigenetics—personalized nutrition in obesity and cardiovascular diseases
Author(s):
Barrea L, Annunziata G, Bordoni L, Muscogiuri G, Colao A, Savastano S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
International Journal of Obesity Supplements v10.1 p1-13
Year:
2020
ORPHAcode / other:
Commentary: Obesity: The “Achilles heel” for COVID-19?
Author(s):
Muscogiuri G, Pugliese G, Barrea L, Savastano S, Colao A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Metabolism v108 p154251
Year:
2020
ORPHAcode / other:
Genetic testing in inherited endocrine disorders, Joint position paper of the European Reference Network on Rare Endocrine Diseases (Endo-ERN)
Author(s):
Eggermann T, Elbracht M, Kurth I, Juul A, Holm Johannsen T, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; Sahlgrenska University Hospital ; University Medical Center Mainz ; Leiden University Medical Center ; Universitätsklinikum Schleswig-Holstein ; Universitätsklinikum Magdeburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Inherited endocrine disorders
Publication:
Orphanet Journal of Rare Diseases 2020, 15:144
Year:
2020
ORPHAcode / other:
ORPHA97978
DOI:
10.1186/s13023-020-01420-w
Keywords:
Genetic testing; Imprinting disorders; Rare endocrine conditions; Short stature; glucose and insulin homeostasis; Hypogonadotropic hypogonadism; differences/disorders of sex development;
Second-Day Morning Cortisol Levels after Transsphenoidal Surgery Are Accurate Predictors of Secondary Adrenal Insufficiency with Diagnostic Cut-Offs Similar to Those in Non-Stressed Conditions
Author(s):
Nunzia Prencipe, Mirko Parasiliti-Caprino, Filippo Gatti, Federica Penner, Alessandro Maria Berton, Chiara Bona, Marina Caputo, Valentina D'Angelo, Vincenzo Cappiello, Valentina Gasco, Ezio Ghigo, Francesco Zenga, Silvia Grottoli
Affiliated Institution / ERN:
AO City of Health and Science - Turin ;
Condition / Disease:
Adrenal Insufficiency
Publication:
Karger Doi: 10.1159/000509092
Year:
2020
ORPHAcode / other:
ORPHA101958
DOI:
10.1159/000509092
Keywords:
Adrenal insufficiency; Neurosurgery; Pituitary surgery; Pituitary tumors; Pituitary-adrenal system;
Hypocalcemia induced by tyrosine kinase inhibitors: targeted treatment with ‘untargeted’ side effects
Author(s):
Berends AMA, van der Horst-Schrivers ANA, Oosting SF, Kapiteijn EW, de Groot JWB, Links TP
Affiliated Institution / ERN:
Condition / Disease:
Hypocalcemia
Publication:
Acta Oncologica v59.6 p726-729
Year:
2020
ORPHAcode / other:
5B5K.1Z
Prognostic factors for the outcome of nonfunctioning pancreatic neuroendocrine tumors in MEN1: a systematic review of literature
Author(s):
Sadowski SM, Pieterman CRC, Perrier ND, Triponez F, Valk GD
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Endocrine-Related Cancer v27.6 pR145-R161
Year:
2020
ORPHAcode / other:
ORPHA652
DOI:
10.1530/ERC-19-0372
Keywords:
MEN1,metastases,nonfunctioning pancreatic neuroendocrine tumors,prognostic factors,survival,systematic review
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study
Author(s):
Le Bourgeois F, Beltrand J, Baz B, Julla J, Riveline J, Simon A, Flechtner I, Ait Djoudi M, Fauret-Amsellem A, Vial Y, Scharfmann R, Sommet J, Boudou P, Cavé H, Polak M, Gautier J, Busiah K, Abu-Amara Olivieri S, Bachere N, Bellanne-Chantelot C, Bertrand A, Bourron O, De Boisvilliers F, Deumier B, Gourdy P, Hartemann A, Jellimann S, Le Tallec C, Martin-Dessilla A, Paoli A, Perrin M, Ribstein J, Saint-Martin C, Thivolet C, Vialettes B, Ythier H
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Transient Neonatel Diabetes mellitus
Publication:
Diabetes Care v43.6 p1191-1199
Year:
2020
ORPHAcode / other:
ORPHA99886
FGF23-related hypophosphatemia in patients with low bone mineral density and fragility fractures: challenges in diagnosis and management
Author(s):
Indirli R, Guabello G, Longhi M, Niada S, Maruca K, Mora S, Maggioni M, Corbetta S
Affiliated Institution / ERN:
Condition / Disease:
X-linked hypophosphataemia
Publication:
Journal of Endocrinological Investigation v43.6 p787-798
Year:
2020
ORPHAcode / other:
ORPHA89936
DOI:
10.1007/s40618-019-01165-9
Keywords:
Fibroblast growth factor 23,Hypophosphatemia,Low bone mineral density,Skeletal fragility,Tumor-induced osteomalacia
The 2020 Italian Society of Arterial Hypertension (SIIA) practical guidelines for the management of primary aldosteronism
Author(s):
Rossi GP, Bisogni V, Bacca AV, Belfiore A, Cesari M, Concistrè A, Del Pinto R, Fabris B, Fallo F, Fava C, Ferri C, Giacchetti G, Grassi G, Letizia C, Maccario M, Mallamaci F, Maiolino G, Manfellotto D, Minuz P, Monticone S, Morganti A, Muiesan ML, Mulatero P, Negro A, Parati G, Pengo MF, Petramala L, Pizzolo F, Rizzoni D, Rossitto G, Veglio F, Seccia TM
Affiliated Institution / ERN:
Condition / Disease:
Primary aldosteronism
Publication:
International Journal of Cardiology Hypertension v5 p100029
Year:
2020
ORPHAcode / other:
ORPHA181415
DOI:
10.1016/j.ijchy.2020.100029
Keywords:
Diagnosis,Guidelines,Hypertension,Primary aldosteronism,Treatment
Adrenalectomy for Primary Aldosteronism: Significant Variability in Work‐Up Strategies and Low Guideline Adherence in Worldwide Daily Clinical Practice
Author(s):
Vorselaars WMCM, van Beek D, Suurd DPD, Postma E, Spiering W, Borel Rinkes IHM, Valk GD, Vriens MR, Zarnegar R, Fahey TJ, Drake FT, Duh QY, Talutis SD, McAneny DB, McManus C, Lee JA, Grant SB, Grogan RH, Romero Arenas MA, Perrier ND, Sturgeon C, Castelino T, Mitmaker EJ, Parente DN, Pasternak JD, Sidhu SB, Sywak M, D'Amato G, Raffaelli M, Schuermans V, Bouvy ND, Eker HH, Jaap Bonjer H, Engelsman AF, Nieveen van Dijkum EJM, Kerstens MN, Kruijff S
Affiliated Institution / ERN:
Condition / Disease:
Primary aldosteronism
Publication:
World Journal of Surgery v44.6 p1905-1915
Year:
2020
ORPHAcode / other:
ORPHA181415
Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions.
Author(s):
Johannsen TH, Andersson AM, Ahmed SF, de Rijke YB, Greaves RF, Hartmann MF, Hiort O, Holterhus PM, Krone NP, Kulle A, Ljubicic ML, Mastorakos G, McNeilly J, Pereira AM, Saba A, Wudy SA, Main KM, Juul A
Affiliated Institution / ERN:
AOU Pisan ; Leiden University Medical Center ; General Hospital of Athens “LAIKO” ; Universitätsklinikum Schleswig-Holstein ; Erasmus MC: University Medical Center Rotterdam ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease:
DSD
Publication:
European Journal of Endocrinology Volume 182: Issue 6 Page(s): P1–P15
Year:
2020
ORPHAcode / other:
ORPHA90771
Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study
Author(s):
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S, Castroneves LA, Sakurai A, Kihara M, Horiuchi K, Barbu VD, Borson-Chazot F, Gimenez-Roqueplo A, Pigny P, Pinson S, Wohllk N, Eng C, Aydogan BI, Saranath D, Dvorakova S, Castinetti F, Patocs A, Bergant D, Links TP, Peczkowska M, Hoff AO, Mian C, Dwight T, Jarzab B, Neumann HPH, Robledo M, Uchino S, Barlier A, Godballe C, Mathiesen JS
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 2A
Publication:
Endocrine Connections v9.6 p489-497
Year:
2020
ORPHAcode / other:
ORPHA247698
DOI:
10.1530/EC-20-0163
Keywords:
RET,medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,primary hyperparathyroidism
Pegvisomant and not somatostatin receptor ligands (SRLs) is first-line medical therapy for acromegaly
Author(s):
van der Lely AJ, Kuhn E, Muhammad A, Coopmans EC, Neggers SJ, Chanson P
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Hôpital Bicêtre ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v182.6 pD17-D29
Year:
2020
ORPHAcode / other:
ORPHA963
T2-signal intensity, SSTR expression, and somatostatin analogs efficacy predict response to pasireotide in acromegaly
Author(s):
Coopmans EC, Schneiders JJ, El-Sayed N, Erler NS, Hofland LJ, van der Lely A, Petrossians P, Potorac J, Muhammad A, Neggers SJCMM
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Liège ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v182.6 p595-605
Year:
2020
ORPHAcode / other:
ORPHA963
Characterization of the stem cell niche components within the seminiferous tubules in testicular biopsies of Klinefelter patients
Author(s):
Van Saen D, Vloeberghs V, Gies I, De Schepper J, Tournaye H, Goossens E
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
Fertility and Sterility v113.6 p1183-1195.e3
Year:
2020
ORPHAcode / other:
Q98.4
DOI:
10.1016/j.fertnstert.2020.01.018
Keywords:
Extracellular matrix,Klinefelter syndrome,infertility,peritubular myoid cells,tubular integrity
Germ cell loss in Klinefelter syndrome: When and why?
Author(s):
Willems M, Gies I, Van Saen D
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics v184.2 p356-370
Year:
2020
ORPHAcode / other:
Q98.4
DOI:
10.1002/ajmg.c.31787
Keywords:
Klinefelter syndrome,X-linked gene expression,aneuploidy,germ cell loss,infertility
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome
Author(s):
Zitzmann M, Rohayem J
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics v184.2 p302-312
Year:
2020
ORPHAcode / other:
LD50.31
DOI:
10.1002/ajmg.c.31786
Keywords:
47,XXY,Klinefelter syndrome,children with Klinefelter syndrome,fertility in Klinefelter syndrome,hypogonadism in Klinefelter syndrome
Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study
Author(s):
Colao A, Bronstein MD, Brue T, De Marinis L, Fleseriu M, Guitelman M, Raverot G, Shimon I, Fleck J, Gupta P, Pedroncelli AM, Gadelha MR
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v182.6 p583
Year:
2020
ORPHAcode / other:
ORPHA963
Psychological Distress and Illness Perceptions in Thyroid Cancer Survivors: Does Age Matter?
Author(s):
Husson O, Poort H, Sansom-Daly UM, Netea-Maier R, Links T, Mols F
Affiliated Institution / ERN:
Condition / Disease:
Thyroid cancers
Publication:
Journal of Adolescent and Young Adult Oncology v9.3 p375-383
Year:
2020
ORPHAcode / other:
ORPHA100088
DOI:
10.1089/jayao.2019.0153
Keywords:
age,illness perceptions,psychological distress,thyroid cancer
Thyroid gland changes in patients with acromegaly
Author(s):
Emil Natchev, Silvia Vandeva, Roussanka Kovatcheva, Georgi Kirilov, Krasimir Kalinov, Sabina Zacharieva
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Arch Endocrinol Metab 64(3):269-275
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.20945/2359-3997000000247
Keywords:
Thyroid volume; acromegaly; disease activity; secondary hypothyroidism; nodular goiter;
Eucaloric Very-Low-Carbohydrate Ketogenic Diet in Acromegaly Treatment
Author(s):
Coopmans EC, Berk KA, El-Sayed N, Neggers SJ, van der Lely AJ
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
New England Journal of Medicine v382.22 p2161-2162
Year:
2020
ORPHAcode / other:
ORPHA963
A Randomized, Controlled Trial of Liraglutide for Adolescents with Obesity
Author(s):
Kelly AS, Auerbach P, Barrientos-Perez M, Gies I, Hale PM, Marcus C, Mastrandrea LD, Prabhu N, Arslanian S
Affiliated Institution / ERN:
Condition / Disease:
Obesity
Publication:
New England Journal of Medicine v382.22 p2117-2128
Year:
2020
ORPHAcode / other:
5B81.00
IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity
Author(s):
Kaleviste E, Rühlemann M, Kärner J, Haljasmägi L, Tserel L, Org E, Trebušak Podkrajšek K, Battelino T, Bang C, Franke A, Peterson P, Kisand K
Affiliated Institution / ERN:
ERN BOND ; ERN BOND ;
Condition / Disease:
APECED
Publication:
Frontiers in Immunology v11
Year:
2020
ORPHAcode / other:
ORPHA3453;
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria
Author(s):
de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, Biermasz NR, Hiort O, Pereira AM
Affiliated Institution / ERN:
Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Universitätsklinikum Schleswig-Holstein ;
Condition / Disease:
ERNs
Publication:
European Journal of Endocrinology Volume 183, 2020, Issue 2
Year:
2020
ORPHAcode / other:
ORPHA97978
DOI:
10.1530/EJE-20-0197
Keywords:
European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
Hypophosphataemic Rickets: Similar Phenotype of Different Diseases
Author(s):
de la Cerda-Ojeda F, González-Rodríguez JD, Madariaga L, Martínez-Díaz-Guerra G, Matoses-Ruipérez ML
Affiliated Institution / ERN:
Condition / Disease:
Hypophosphataemic rickets
Publication:
Advances in Therapy v37.S2 p80-88
Year:
2020
ORPHAcode / other:
ORPHA437
DOI:
10.1007/s12325-019-01182-3
Keywords:
Cutaneous skeletal hypophosphataemia syndrome,Differential diagnosis,Hypophosphataemic rickets,McCune–Albright syndrome,Oncogenic osteomalacia,Orthopaedics
Growth Hormone Therapy Does Not Increase the Risk of Craniopharyngioma and Nonfunctioning Pituitary Adenoma Recurrence
Author(s):
Losa M, Castellino L, Pagnano A, Rossini A, Mortini P, Lanzi R
Affiliated Institution / ERN:
Condition / Disease:
Craniopharyngioma, non-functioning pituitary adenoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.5 p1573-1580
Year:
2020
ORPHAcode / other:
ORPHA54595, ORPHA91349
DOI:
10.1210/clinem/dgaa089
Keywords:
growth hormone deficiency,hypopituitarism,pituitary neoplasm,pituitary surgery
Thigh Muscle Fat Infiltration Is Associated With Impaired Physical Performance Despite Remission in Cushing’s Syndrome
Author(s):
Martel-Duguech L, Alonso-Jiménez A, Bascuñana H, Díaz-Manera J, Llauger J, Nuñez-Peralta C, Biagetti B, Montesinos P, Webb SM, Valassi E
Affiliated Institution / ERN:
Condition / Disease:
Cushing’s Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.5 pe2039-e2049
Year:
2020
ORPHAcode / other:
ORPHA553
DOI:
10.1210/clinem/dgz329
Keywords:
Cushing’s syndrome,fatty infiltration,muscle,muscle performance
Primary sellar melanocytoma: pathological, clinical and treatment review
Author(s):
Albano L, Losa M, Barzaghi LR, Spatola G, Panni P, Terreni MR, Mortini P
Affiliated Institution / ERN:
Condition / Disease:
Acquired pituitary hormone deficiency
Publication:
Journal of Endocrinological Investigation v43.5 p575-585
Year:
2020
ORPHAcode / other:
ORPHA95502
DOI:
10.1007/s40618-019-01158-8
Keywords:
Leptomeningeal melanocytes,Pituitary tumor,Primary melanocytic brain tumors,Sellar melanocytoma,Transsphenoidal surgery
New Epidemiological, Clinical and Economic Data for Patients With Acromegaly in Bulgaria
Author(s):
Kamusheva M, Vandeva S, Mitov K, Rusenova Y, Elenkova A, Zacharieva S, Mitkova Z, Tachkov K, Dimitrova M, Doneva M, Tcharaktchiev D, Petrova G
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Frontiers in Public Health v8
Year:
2020
ORPHAcode / other:
ORPHA963
Acromegaly and joint pain: is there something more? A cross-sectional study to evaluate rheumatic disorders in growth hormone secreting tumor patients
Author(s):
N Prencipe, M Scarati, T Manetta, A M Berton, S Parisi, C Bona, M Parasiliti-Caprino, M C Ditto, V Gasco, E Fusaro & S Grottoli
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation 2020 43:1661–1667
Year:
2020
ORPHAcode / other:
ORPHA963