Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Discordant biological parameters of remission in acromegaly do not increase the risk of hypertension or diabetes: a study with the Liege Acromegaly Survey database
Author(s):
Amodru V, Petrossians P, Colao A, Delemer B, Maione L, Neggers S, Decoudier B, Kamenicky P, Castinetti F, Hana V, Pivonello R, Carvalho D, Brue T, Beckers A, Chanson P, Cuny T
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Endocrine v70.1 p134-142
Year:
2020
ORPHAcode / other:
ORPHA963
Expression of programmed death-ligand 1 (PD-L1) in human pituitary neuroendocrine tumor
Author(s):
Suteau V, Collin A, Menei P, Rodien P, Rousselet M, Briet C
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
Cancer Immunology, Immunotherapy v69.10 p2053-2061
Year:
2020
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s00262-020-02611-x
Keywords:
Clone 22C3,Immunohistochemistry,Immunotherapy,PD-L1,Pituitary neuroendocrine tumor
Surgical Complications and Referral Patterns in 567 Patients with Differentiated Thyroid Cancer in the Northern Region of the Netherlands: A Population-Based Study Towards Clinical Management Implementation
Author(s):
van Dijk D, van Dijk BAC, Weistra A, Links TP, Plukker JTM
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Annals of Surgical Oncology v27.10 p3872-3881
Year:
2020
ORPHAcode / other:
ORPHA146
HDAC Inhibition Induces PD-L1 Expression in a Novel Anaplastic Thyroid Cancer Cell Line
Author(s):
Hegedűs L, Rittler D, Garay T, Stockhammer P, Kovács I, Döme B, Theurer S, Hager T, Herold T, Kalbourtzis S, Bankfalvi A, Schmid KW, Führer D, Aigner C, Hegedűs B
Affiliated Institution / ERN:
Condition / Disease:
Anaplastic Thyroid Carcinoma
Publication:
Pathology & Oncology Research v26.4 p2523-2535
Year:
2020
ORPHAcode / other:
ORPHA142
DOI:
10.1007/s12253-020-00834-y
Keywords:
Anaplastic thyroid cancer,BRAF mutation,HDAC inhibition,Pleural effusion,TERT promoter mutation
Global longitudinal strain as a marker for systolic function in patients with pheochromocytomas
Author(s):
Elenkova A, Shabani R, Kinova E, Vasilev V, Goudev A, Zacharieva S
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma
Publication:
Endocrine-Related Cancer v27.10 p561-570
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.1530/ERC-20-0137
Keywords:
catecholamine-induced cardiomyopathy,global longitudinal strain,pheochromocytoma,strain echocardiography
What microRNAs could tell us about the human X chromosome
Author(s):
Di Palo A, Siniscalchi C, Salerno M, Russo A, Gravholt CH, Potenza N
Affiliated Institution / ERN:
Condition / Disease:
Turner's Syndrome; Klinefelter Syndrome;
Publication:
Cellular and Molecular Life Sciences v77.20 p4069-4080
Year:
2020
ORPHAcode / other:
ORPHA881; LD50.3;
DOI:
10.1007/s00018-020-03526-7
Keywords:
Klinefelter syndrome,Turner syndrome,X chromosome,microRNA
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty
Author(s):
Mosbah H, Bouvattier C, Maione L, Trabado S, De Filippo G, Cartes A, Donzeau A, Chanson P, Brailly-Tabard S, Dwyer AA, Coutant R, Young J
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism
Publication:
Human Reproduction v35.10 p2312-2322
Year:
2020
ORPHAcode / other:
ORPHA174590
DOI:
10.1093/humrep/deaa185
Keywords:
GnRH,Kallmann syndrome,delayed puberty,gonadotropins,hypogonadism,inhibin B
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
Author(s):
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S
Affiliated Institution / ERN:
Hospital Universitario Cruces ; ERN BOND ;
Condition / Disease:
Hypomagnesemia
Publication:
PLOS ONE v15.9 pe0239965
Year:
2020
ORPHAcode / other:
ORPHA93603
Neonatal Diabetes Mellitus
Author(s):
Beltrand J, Busiah K, Vaivre-Douret L, Fauret AL, Berdugo M, Cavé H, Polak M
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Neonatal Diabetes Mellitus
Publication:
Frontiers in Pediatrics v8
Year:
2020
ORPHAcode / other:
ORPHA224
DOI:
10.3389/fped.2020.540718
Keywords:
ABCC8,KCNJ11 (Kir6.2),associated malformations,chromosome 6q24 abnormality,neonatal diabetes mellitus,neuropsychological disorder,sulfonylurea receptor (SUR1)
Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia
Author(s):
Salma R Ali, Jillian Bryce, Houra Haghpanahan, James D Lewsey, Li En Tan, Navoda Atapattu, Niels H Birkebaek, Oliver Blankenstein, Uta Neumann, Antonio Balsamo, Rita Ortolano, Walter Bonfig, Hedi L Claahsen-van der Grinten, Martine Cools, Eduardo Correa Costa, Feyza Darendeliler, Sukran Poyrazoglu, Heba Elsedfy, Martijn J J Finken, Christa E Fluck, Evelien Gevers, Márta Korbonits, Guilherme Guaragna-Filho, Tulay Guran, Ayla Guven, Sabine E Hannema, Claire Higham, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Nils P Krone, Ruth Krone, Corina Lichiardopol, Andrea Luczay, Berenice B Mendonca, Tania A S S Bachega, Mirela C Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Silvia Einaudi, Hetty van der Kamp, Ana Vieites, Liat de Vries, Richard J M Ross, S Faisal Ahmed
Affiliated Institution / ERN:
Condition / Disease:
Congenital adrenal hyperpasia
Publication:
The Journal of Clinical Endocrinology & Metabolism 2020 Sep 29;dgaa694. doi: 10.1210/clinem/dgaa694
Year:
2020
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgaa694
Keywords:
21-hydroxylase deficiency; adrenal crisis; adrenal insufficiency; congenital adrenal hyperplasia; registry;
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
Author(s):
Brachet C, Gernay C, Boros E, Soblet J, Vilain C, Heinrichs C
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism
Publication:
Journal of Pediatric Endocrinology and Metabolism v33.9 p1237-1240
Year:
2020
ORPHAcode / other:
ORPHA174590
Blood sampling for metanephrines comparing venipuncture vs. indwelling intravenous cannula in healthy subjects
Author(s):
Eijkelenkamp K, van Geel EH, Kerstens MN, van Faassen M, Kema IP, Links TP, van der Horst-Schrivers AN
Affiliated Institution / ERN:
University Hospital Essen ; Ulm University Medical Center ;
Condition / Disease:
Pheochromocytoma and paraganglioma
Publication:
Clinical Chemistry and Laboratory Medicine (CCLM) v58.10 p1681-1686
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.1515/cclm-2020-0022
Keywords:
blood sampling condition,paraganglioma,pheochromocytoma,plasma-free metanephrines
Development and Internal Validation of a Multivariable Prediction Model for Adrenocortical-Carcinoma-Specific Mortality
Author(s):
Ettaieb MHT, van Kuijk SMJ, de Wit-Pastoors A, Feelders RA, Corssmit EPM, Eekhoff EMW, van der Valk P, Timmers HJLM, Kerstens MN, Klümpen H, van Leeuwaarde RS, Havekes B, Haak HR
Affiliated Institution / ERN:
Máxima Medisch Centrum Veldhoven ; Maastricht University Medical Center+ ; Leiden University Medical Center ; Amsterdam UMC ; Radboud University Medical Centre Nijmegen ; University Medical Center Groningen ; University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
Cancers v12.9 p2720
Year:
2020
ORPHAcode / other:
ORPHA1501
Consensus clinical management guidelines for Alström syndrome
Author(s):
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C Han, Francesca Favaretto, Shyam C Madathil, Charlotte Dawson, Matthew J Armstrong, Adrian T Warfield, Selma Düzenli, Clair A Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett & Tarekegn Geberhiwot
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases 15, Article number: 253 (2020)
Year:
2020
ORPHAcode / other:
Surgery for multiple endocrine neoplasia type 1-related insulinoma: long-term outcomes in a large international cohort
Author(s):
Beek DJ, Nell S, Verkooijen HM, Borel Rinkes IHM, Valk GD, Vriens MR, Goudet P, Vella A, Donegan D, Bartsch DK, Manoharan J, Perrier ND, Christakis I, Brandi ML, Zarnegar R, Postma EL, Kebebew E, Nockel P, Brunaud L, Pasternak JD, Kluijfhout WP, Sturgeon C, Giri S, Bonsing BA, Eijck CH, Goor H, Kleine RHJ, Dijkum EJN, Dejong CHC
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
British Journal of Surgery v107.11 p1489-1499
Year:
2020
ORPHAcode / other:
ORPHA652
Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth-promoting therapy in peripubertal growth delays: Results of a retrospective study among ENDO-ERN centres
Author(s):
Elena Galazzi, Nicola Improda, Manuela Cerbone, Davide Soranna, Mirella Moro, Letizia Maria Fatti, Antonella Zambon, Marco Bonomi, Mariacarolina Salerno, Mehul Dattani, Luca Persani
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; AOU Federico II - Naples ;
Condition / Disease:
Constitutional delay of growth
Publication:
Wiley online library Doi 10.1111 cen.14337
Year:
2020
ORPHAcode / other:
5A91
DOI:
10.1111/cen.14337
Keywords:
constitutional delay of growth and puberty; final height; idiopathic growth hormone deficiency; puberty; sex steroid priming; short stature;
Normal Insulin-like Growth Factor 1 During Somatostatin Receptor Ligand Treatment Predicts Surgical Cure in Acromegaly
Author(s):
Losa M, Garbin E, Pedone E, Mortini P
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.9 pe3339-e3347
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.1210/clinem/dgaa424
Keywords:
acromegaly,pituitary neoplasm,pituitary surgery,somatostatin analogs
MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives
Author(s):
Amodru V, Taieb D, Guerin C, Romanet P, Paladino N, Brue T, Cuny T, Barlier A, Sebag F, Castinetti F
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 2B
Publication:
Endocrine v69.3 p496-503
Year:
2020
ORPHAcode / other:
ORPHA247709
DOI:
10.1007/s12020-020-02332-2
Keywords:
Adrenal sparing surgery,Adrenalectomy,Medullary thyroid cancer,Multiple endocrine neoplasia type 2,Pheochromocytoma,RET
Insulin dose optimization using an automated artificial intelligence-based decision support system in youths with type 1 diabetes
Author(s):
Nimri R, Battelino T, Laffel LM, Slover RH, Schatz D, Weinzimer SA, Dovc K, Danne T, Phillip M, Phillip M, Nimri R, Shalitin S, Bello R, Nevo-Shenker M, Fisch-Shvalb N, Shiovitch-Mantzuri G, Choresh O, Drutz I, Nava Y, Hemo A, Hermon O, Nave R, Battelino T, Dovc K, Bratina N, Smigoe-Schweiger D, Mali B, Gianini A, Sever U, Berkopec BM, Laffel LM, Katz M, Isganaitis E, Mehta S, Quinn H, Naik N, Guo Z, Volkening L, Slover RH, Forlenza G, Wadwa RP, Alonso GT, Messer L, Towers L, Thivener K, Berget C, Lange S, Jost E, Rossick-Solis M, Schatz D, Haller M, Hiers P, Jacobsen L, Smith M, O’Neill A, Hosford J, Perry A, Weinzimer SA, Cengiz E, Sherr J, Gibbons K, Carria L, Zgorski M, Danne T, Biester T, Kordonouri O, von dem Berge T, Biester S, Remus K
Affiliated Institution / ERN:
Condition / Disease:
Type 1 diabetes mellitus
Publication:
Nature Medicine v26.9 p1380-1384
Year:
2020
ORPHAcode / other:
5A10
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype
Author(s):
Garcin L, Mericq V, Fauret‐Amsellem A, Cave H, Polak M, Beltrand J
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Neonatal diabetes
Publication:
Pediatric Diabetes v21.6 p932-941
Year:
2020
ORPHAcode / other:
ORPHA224
DOI:
10.1111/pedi.13041
Keywords:
genotype-phenotype correlation,monogenic diabetes,precision medicine
Prevalence of primary aldosteronism and association with cardiovascular complications in patients with resistant and refractory hypertension
Author(s):
Mirko Parasiliti-Caprinoa, Chiara Lopeza, Nunzia Prencipea, Barbara Lucatelloa, Fabio Settannib, Giuseppe Giraudoc, Denis Rossatod, Giulio Mengozzib, Ezio Ghigoa, Andrea Bensoa, and Mauro Maccarioa
Affiliated Institution / ERN:
AO City of Health and Science - Turin ;
Condition / Disease:
Primary aldosteronism
Publication:
Journal of Hypertension September 2020 - Volume 38 - Issue 9 - p 1841-1848 doi: 10.1097/HJH.0000000000002441
Year:
2020
ORPHAcode / other:
ORPHA181415
DOI:
10.1097/HJH.0000000000002441
Keywords:
aldosterone; cardiovascular system; primary aldosteronism; resistant hypertension; secondary hypertension; subclinical vascular damage;
Clinical considerations for the treatment of secondary differentiated thyroid carcinoma in childhood cancer survivors
Author(s):
van Santen HM, Alexander EK, Rivkees SA, Frey E, Clement SC, Dierselhuis MP, Lebbink CA, Links TP, Lorenz K, Peeters RP, Reiners C, Vriens MR, Nathan P, Schneider AB, Verburg F
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
European Journal of Endocrinology v183.3 pP1-P10
Year:
2020
ORPHAcode / other:
ORPHA146
HDL Cholesterol Efflux Capacity is Impaired in Severe Short-Term Hypothyroidism Despite Increased HDL Cholesterol
Author(s):
van der Boom T, Jia C, Lefrandt JD, Connelly MA, Links TP, Tietge UJF, Dullaart RPF
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.9 pe3355-e3362
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
10.1210/clinem/dgaa411
Keywords:
HDL ant-oxidative capacity,HDL cholesterol,HDL subfractions,cholesterol efflux capacity,hypothyroidism,nuclear magnetic resonance
Approach to the Patient: Perioperative Management of the Patient with Pheochromocytoma or Sympathetic Paraganglioma
Author(s):
Berends AMA, Kerstens MN, Lenders JWM, Timmers HJLM
Affiliated Institution / ERN:
University Hospital Essen ; Sestre milosrdnice University Hospital Center ;
Condition / Disease:
Pheochromocytoma and paraganglioma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.9 p3088-3102
Year:
2020
ORPHAcode / other:
ORPHA573163
DOI:
10.1210/clinem/dgaa441
Keywords:
alpha-receptor blockade,perioperative management,pheochromocytoma,sympathetic paraganglioma
Multivariable Prediction Model for Biochemical Response to First-Generation Somatostatin Receptor Ligands in Acromegaly
Author(s):
Coopmans EC, Korevaar TIM, van Meyel SWF, Daly AF, Chanson P, Brue T, Delemer B, Hána V, Colao A, Carvalho D, Jaffrain-Rea M, Stalla GK, Fajardo-Montañana C, Beckers A, van der Lely AJ, Petrossians P, Neggers SJCMM
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.9 p2964-2974
Year:
2020
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgaa387
Keywords:
acromegaly,biochemical response,first-generation somatostatin receptor ligands
Psychosexual Outcome, Sexual Function, and Long-Term Satisfaction of Adolescent and Young Adult Men After Childhood Hypospadias Repair
Author(s):
Tack LJ, Springer A, Riedl S, Tonnhofer U, Weninger J, Hiess M, Van Laecke E, Hoebeke P, Spinoit A, Cools M, Van Hoecke E
Affiliated Institution / ERN:
Condition / Disease:
Other
Publication:
The Journal of Sexual Medicine v17.9 p1665-1675
Year:
2020
ORPHAcode / other:
ORPHA98085
DOI:
10.1016/j.jsxm.2020.04.002
Keywords:
Erectile Function,Hypospadias,Hypospadias Repair,Psychosexual Outcome,Sexual Function
Pancreatic Neuroendocrine Neoplasms: Does Sex Matter?
Author(s):
Muscogiuri G, Barrea L, Feola T, Gallo M, Messina E, Venneri MA, Faggiano A, Colao A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Trends in Endocrinology & Metabolism v31.9 p631-641
Year:
2020
ORPHAcode / other:
DOI:
10.1016/j.tem.2020.02.010
Keywords:
epidemiology,pancreatic neuroendocrine neoplasms,sex,sex difference
Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia
Author(s):
Hoermann H, El‐Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann C, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ; Charité Universitätsmedizin Berlin ; Odense University Hospital ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
Clinical Endocrinology v93.3 p346-354
Year:
2020
ORPHAcode / other:
ORPHA165985
DOI:
10.1111/cen.14267
Keywords:
KDM6A,KMT2D,Kabuki syndrome,diazoxide,hyperinsulinism,hypoglycaemia,medical genetics
Hyperprolactinemia in Acromegaly is Related to Prolactin Secretion by Somatolactotroph Tumours
Author(s):
Van Laethem D, Michotte A, Cools W, Velkeniers B, Unuane D, Andreescu CE, Bravenboer B
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Hormone and Metabolic Research v52.09 p647-653
Year:
2020
ORPHAcode / other:
ORPHA963
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature
Author(s):
Neocleous V, Fanis P, Toumba M, Tanteles GA, Schiza M, Cinarli F, Nicolaides NC, Oulas A, Spyrou GM, Mantzoros CS, Vlachakis D, Skordis N, Phylactou LA
Affiliated Institution / ERN:
Condition / Disease:
Congenital hypogonadotropic hypogonadism
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA174590
DOI:
10.3389/fendo.2020.00626
Keywords:
GnRH,digenic inheritance,genes,hypogonadotropic hypogonadism,next generation sequencing