Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Epidemiology of pancreatic neuroendocrine neoplasms: a gender perspective
Author(s):
Muscogiuri G, Altieri B, Albertelli M, Dotto A, Modica R, Barrea L, Fanciulli G, Feola T, Baldelli R, Ruggeri RM, Gallo M, Guarnotta V, Malandrino P, Messina E, Venneri MA, Giannetta E, Ferone D, Colao A, Faggiano A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Pancreatic neuroendocrine neoplasms
Publication:
Endocrine v69.2 p441-450
Year:
2020
ORPHAcode / other:
ORPHA97253
DOI:
10.1007/s12020-020-02331-3
Keywords:
Cardiovascular diseases,Epidemiology,Gender,Pancreatic neuroendocrine neoplasms,Sex,Type 2 diabetes
Etomidate infusion at low doses is an effective and safe treatment for severe Cushing’s syndrome outside intensive care
Author(s):
Constantinescu SM, Driessens N, Lefebvre A, Furnica RM, Corvilain B, Maiter D
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; University Hospitals Saint-Luc ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
European Journal of Endocrinology v183.2 p161-167
Year:
2020
ORPHAcode / other:
ORPHA647758
Editorial: Health-Related Complications of Acromegaly
Author(s):
Bolanowski M, Boguszewski CL, Colao A, Jawiarczyk-Przybyłowska A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2020.00496
Keywords:
acromegaly,complications,endothelium,fractures,hypertension,insulin resistance,neoplasm,quality of life
The Impact of the Extent of Surgery on the Long-Term Outcomes of Patients with Low-Risk Differentiated Non-Medullary Thyroid Cancer: A Systematic Meta-Analysis
Author(s):
Bojoga A, Koot A, Bonenkamp J, de Wilt J, IntHout J, Stalmeier P, Hermens R, Smit J, Ottevanger P, Netea-Maier R
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Journal of Clinical Medicine v9.7 p2316
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
https://doi.org/10.3390/jcm9072316
Keywords:
low-risk thyroid cancer; thyroid lobectomy; total thyroidectomy; shared decision making;
Phase Angle: Could Be an Easy Tool to Detect Low-Grade Systemic Inflammation in Adults Affected by Prader–Willi Syndrome?
Author(s):
Barrea L, Pugliese G, de Alteriis G, Colao A, Savastano S, Muscogiuri G
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
Nutrients v12.7 p2065
Year:
2020
ORPHAcode / other:
ORPHA739
DOI:
10.3390/nu12072065
Keywords:
Prader–Willi syndrome,chronic low-grade inflammation,nutritionist,obesity,phase angle
Lanreotide Induces Cytokine Modulation in Intestinal Neuroendocrine Tumors and Overcomes Resistance to Everolimus
Author(s):
Sciammarella C, Luce A, Riccardi F, Mocerino C, Modica R, Berretta M, Misso G, Cossu AM, Colao A, Vitale G, Necas A, Fedacko J, Galdiero M, Correale P, Faggiano A, Caraglia M, Capasso A, Grimaldi A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Frontiers in Oncology v10
Year:
2020
ORPHAcode / other:
DOI:
10.3389/fonc.2020.01047
Keywords:
cytokines,drug-resistance,mTOR–mammalian target of rapamycin,neuroendocrine tumors,somatostatin analogs
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity
Author(s):
Dieu X, Bouzamondo N, Briet C, Illouz F, Moal V, Boux de Casson F, Bouhours-Nouet N, Reynier P, Coutant R, Rodien P, Mirebeau-Prunier D
Affiliated Institution / ERN:
IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease:
Thyroid hormone resistance syndromes
Publication:
Journal of Clinical Medicine v9.7 p2105
Year:
2020
ORPHAcode / other:
ORPHA596426
DOI:
10.3390/jcm9072105
Keywords:
THRB,albumin,familial dysalbuminemic hyperthyroxinemia,immunoassay interference,resistance to thyroid hormone
Rare Germline DICER1 Variants in Pediatric Patients With Cushing’s Disease: What Is Their Role?
Author(s):
Martínez de LaPiscina I, Hernández-Ramírez LC, Portillo N, Gómez-Gila AL, Urrutia I, Martínez-Salazar R, García-Castaño A, Aguayo A, Rica I, Gaztambide S, Faucz FR, Keil MF, Lodish MB, Quezado M, Pankratz N, Chittiboina P, Lane J, Kay DM, Mills JL, Castaño L, Stratakis CA
Affiliated Institution / ERN:
Condition / Disease:
Cushing disease
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA96253
DOI:
10.3389/fendo.2020.00433
Keywords:
Cushing's disease,DICER1,corticotropinoma,disease-modifying gene,pituitary neuroendocrine tumor
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Author(s):
Stefan Groeneweg, Ferdy S van Geest, Prof Ayhan Abacı, Alberto Alcantud, Gautem P Ambegaonkar, Christine M Armour, Priyanka Bakhtiani, Diana Barca, Prof Enrico S Bertini, Ingrid M van Beynum, Prof Nicola Brunetti-Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Prof Krishna Chatterjee, Irenaeus F M de Coo, Prof Régis Coutant, Prof Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Prof Paul Dimitri, Anna Dolcetta-Capuzzo, Marjolein H G Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien F Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Prof Marjo S van der Knaap, Marieke M van der Knoop, Prof Daniel Konrad, David A Koolen, Prof Heiko Krude, Amy Lawson-Yuen, Prof Jan Lebl, Michaela Linder-Lucht, Cláudia F Lorea, Charles M Lourenço, Roelineke J Lunsing, Greta Lyons, Jana Malikova, Edna E Mancilla, Anne McGowan, Prof Veronica Mericq, Felipe M Lora, Carla Moran, Katalin E Müller, Isabelle Oliver-Petit, Laura Paone, Praveen G Paul, Prof Michel Polak, Francesco Porta, Fabiano O Poswar, Christina Reinauer, Klara Rozenkova, Tuba S Menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A M Stals, Athanasia Stoupa, Gopinath M Subramanian, Davide Tonduti, Prof Serap Turan, Corstiaan A den Uil, Joel Vanderniet, Adri van der Walt, Prof Jean-Louis Wémeau, Jolante Wierzba, Marie-Claire Y de Wit, Nicole I Wolf, Michael Wurm, Federica Zibordi, Prof Amnon Zung, Nitash Zwaveling-Soonawala, W Edward Visser
Affiliated Institution / ERN:
Condition / Disease:
MCT8 deficiency
Publication:
The Lancet Diabetes & Endocrinology Vol 8, Issue 7, P594-605
Year:
2020
ORPHAcode / other:
ORPHA59
DOI:
10.1016/S2213-8587(20)30153-4
Keywords:
MCT8 deficiency; underlying risk factors; clinical management; therapies;
Residual Corticosteroid Production in Autoimmune Addison Disease
Author(s):
Sævik ÃB, Åkerman A, Methlie P, Quinkler M, Jørgensen AP, Höybye C, Debowska AJ, Nedrebø BG, Dahle AL, Carlsen S, Tomkowicz A, Sollid ST, Nermoen I, Grønning K, Dahlqvist P, Grimnes G, Skov J, Finnes T, Valland SF, Wahlberg J, Holte SE, Simunkova K, Kämpe O, Husebye ES, Bensing S, øksnes M
Affiliated Institution / ERN:
Condition / Disease:
Addison Disease
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.7 p2430-2441
Year:
2020
ORPHAcode / other:
ORPHA85138
DOI:
10.1210/clinem/dgaa256
Keywords:
Adrenal failure,Autoimmune Addison disease,adrenal steroids,cortisol,primary adrenal insufficiency,residual function
Diagnosis of Flier’s syndrome in a patient with nondiabetic hypoglycemia: a case report and critical appraisal of the literature
Author(s):
Cimmino I, Faggiano A, Perruolo G, Modica R, Bottiglieri F, Covelli B, Colao A, Beguinot F, Formisano P, Oriente F
Affiliated Institution / ERN:
Condition / Disease:
Flier's syndrome
Publication:
Endocrine v69.1 p73-78
Year:
2020
ORPHAcode / other:
ORPHA411593
DOI:
10.1007/s12020-020-02287-4
Keywords:
Autoimmune disease,Flier’s syndrome,Hirata’s disease,Hypoglycemia,Insulin signaling
Early versus late initiation of GH replacement in adult-onset hypopituitarism
Author(s):
Postma MR, Burman P, van Beek AP
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Acquired pituitary hormone deficiency
Publication:
Endocrine Connections v9.7 p687-695
Year:
2020
ORPHAcode / other:
ORPHA95502
DOI:
10.1530/ec-20-0098
Keywords:
adult-onset growth hormone deficiency,growth hormone replacement therapy,hypopituitarism,treatment initiation
Therapy Response Assessment of Pediatric Tumors with Whole-Body Diffusion-weighted MRI and FDG PET/MRI
Author(s):
Theruvath AJ, Siedek F, Muehe AM, Garcia-Diaz J, Kirchner J, Martin O, Link MP, Spunt S, Pribnow A, Rosenberg J, Herrmann K, Gatidis S, Schäfer JF, Moseley M, Umutlu L, Daldrup-Link HE
Affiliated Institution / ERN:
CHU de Toulouse ; Centre Hospitalier de Luxembourg ; ERN BOND ;
Condition / Disease:
Treatment, Pedatric Tumours
Publication:
Radiology v296.1 p143-151
Year:
2020
ORPHAcode / other:
Gut microbiota of obese subjects with Prader-Willi syndrome is linked to metabolic health
Author(s):
Olsson LM, Poitou C, Tremaroli V, Coupaye M, Aron-Wisnewsky J, Bäckhed F, Clément K, Caesar R
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
Gut v69.7 p1229-1238
Year:
2020
ORPHAcode / other:
ORPHA739
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:
New-generation anti-obesity drugs: naltrexone/bupropion and liraglutide. An update for endocrinologists and nutritionists
Author(s):
Barrea L, Pugliese G, Muscogiuri G, Laudisio D, Colao A, Savastano S
Affiliated Institution / ERN:
Condition / Disease:
Obesity
Publication:
Minerva Endocrinologica v45.2
Year:
2020
ORPHAcode / other:
5B81.00
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
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
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
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