Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Author(s):
Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.3 pe1231-e1239
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgaa901
Keywords:
IQ,central hypothyroidism,cognitive outcome,congenital hypopituitarism,congenital hypothyroidism,neonatal screening
Targeted use of intraoperative frozen-section analysis lowers the frequency of completion thyroidectomy
Author(s):
Staubitz JI, Elmrich I, Musholt PB, Cámara RJA, Watzka F, Dralle H, Sekulla C, Lorenz K, Musholt TJ, Vorländer C, Lorenz K, Blankenburg C, Geffcken C, Steinmüller T, Trupka A, Steinert F, Schabram J, Albrecht L, Marschall C, Orlitsch C, Holzner K, Feller J, Weber T, Kaltofen D, Simon D, Kube R, Schultz K, Sahm M, Obermeier J, Roth C, Janson K, Thomusch O, Meier H, Weinhold A, Müller N, Tonndorf G, Sinn D, Klein E, Henke G, Rampf W, Rendel K, Cupisti K, Holzer K, Grothe D, Axt L, Müller I, Probst W, Guhr C, Schischke F, Schwörig T, Konrad Hospital M, Fielitz J, Stets R, Liese M, Weiss CL, Zaage J, Bräuer T, Weitz J, Huster A, Kidess E, Lautermann J, Kizilirmak N, Jannasch O, Bittscheidt H, Lehmann D, Kröll KP, Musholt TJ, Sonsnowska C, Lorenc Z, Dudesek B, Smutny S, Brauckhoff M, Bareck E, Köberle-Wührer R
Affiliated Institution / ERN:
Bergen Hospital Trust ;
Condition / Disease:
Thyroid carcinoma
Publication:
BJS Open v5.2
Year:
2021
ORPHAcode / other:
ORPHA100088
MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia
Author(s):
Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
European Journal of Endocrinology v184.3 pR85-R97
Year:
2021
ORPHAcode / other:
ORPHA418
The antidiabetic drug glibenclamide exerts direct retinal neuroprotection
Author(s):
Berdugo M, Delaunay K, Naud M, Guegan J, Moulin A, Savoldelli M, Picard E, Radet L, Jonet L, Djerada Z, Gozalo C, Daruich A, Beltrand J, Jeanny J, Kermorvant-Duchemin E, Crisanti P, Polak M, Behar-Cohen F
Affiliated Institution / ERN:
Condition / Disease:
Neonatal diabetes
Publication:
Translational Research v229 p83-99
Year:
2021
ORPHAcode / other:
ORPHA224
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Author(s):
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; UMHAT “Sveta Marina” (Varna) ; University Hospital Motol ;
Condition / Disease:
Noonan Syndrome
Publication:
European Journal of Human Genetics v29.3 p524-527
Year:
2021
ORPHAcode / other:
ORPHA648
Second primary neoplasms in patients with lung and gastroenteropancreatic neuroendocrine neoplasms: Data from a retrospective multi-centric study
Author(s):
Massironi S, Campana D, Pusceddu S, Albertelli M, Faggiano A, Panzuto F, Smiroldo V, Andreasi V, Rossi R, Maggio I, Torchio M, Dotto A, Modica R, Rinzivillo M, Carnaghi C, Partelli S, Fanetti I, Lamberti G, Corti F, Ferone D, Colao A, Annibale B, Invernizzi P, Falconi M
Affiliated Institution / ERN:
AOU-Bologna ; San Raffaele hospital - Milan ; AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Gastroenteropancreatic neuroendocrine neoplasm
Publication:
Digestive and Liver Disease v53.3 p367-374
Year:
2021
ORPHAcode / other:
ORPHA100092
DOI:
10.1016/j.dld.2020.09.031
Keywords:
Neuroendocrine neoplasms (NEN),Neuroendocrine tumors (NET),Second primary malignancy (SPM),Second primary neoplasia
Prevalence of lifetime eating disorders in infertile women seeking pregnancy with pulsatile gonadotropin-releasing hormone therapy
Author(s):
Barbosa-Magalhaes I, Corcos M, Galey J, Perdigao-Cotta S, Papastathi C, de Crecy M, Nicolas I, Lamas C, Christin-Maître S, Pham-Scottez A
Affiliated Institution / ERN:
Condition / Disease:
Kallmann Syndrome
Publication:
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity v26.2 p709-715
Year:
2021
ORPHAcode / other:
ORPHA478
DOI:
10.1007/s40519-020-00893-9
Keywords:
Anorexia nervosa,Eating disorders,GnRH pulsatile treatment,Hypothalamic amenorrhea,Infertility
Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
Author(s):
Ho K, Fleseriu M, Kaiser U, Salvatori R, Brue T, Lopes MB, Kunz P, Molitch M, Camper SA, Gadelha M, Syro LV, Laws E, Reincke M, Nishioka H, Grossman A, Barkan A, Casanueva F, Wass J, Mamelak A, Katznelson L, van der Lely AJ, Radovick S, Bidlingmaier M, Boguszewski M, Bollerslev J, Hoffman AR, Oyesiku N, Raverot G, Ben-Shlomo A, Fowkes R, Shimon I, Fukuoka H, Pereira AM, Greenman Y, Heaney AP, Gurnell M, Johannsson G, Osamura RY, Buchfelder M, Zatelli MC, Korbonits M, Chanson P, Biermasz N, Clemmons DR, Karavitaki N, Bronstein MD, Trainer P, Melmed S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Marseille ; Klinikum der Universität München ; Erasmus MC: University Medical Center Rotterdam ; Oslo University Hospital ; Hospices Civils de Lyon ; Leiden University Medical Center ; Sahlgrenska University Hospital ; AOU - Ferrara ; Hôpital Bicêtre ;
Condition / Disease:
Pituitary adenoma
Publication:
Journal of the Endocrine Society v5.3
Year:
2021
ORPHAcode / other:
ORPHA99408
Basal and stimulated calcitonin for the diagnosis of medullary thyroid cancer: updated thresholds and safety assessment
Author(s):
Fugazzola L, Di Stefano M, Censi S, Repaci A, Colombo C, Grimaldi F, Magri F, Pagotto U, Iacobone M, Persani L, Mian C
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ; Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ;
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Journal of Endocrinological Investigation v44.3 p587-597
Year:
2021
ORPHAcode / other:
ORPHA1332
DOI:
10.1007/s40618-020-01356-9
Keywords:
Bradycardia,Calcitonin,Calcium test,Cut-off,Medullary thyroid cancer
Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice
Author(s):
Kim NR, Khalil R, David K, Antonio L, Schollaert D, Deboel L, Van Herck E, Wardenier N, Cools M, Decallonne B, Claessens F, Dubois V, Vanderschueren D
Affiliated Institution / ERN:
UZ Leuven ; Ghent University Hospital ;
Condition / Disease:
Sex steroid deficiency
Publication:
American Journal of Physiology-Endocrinology and Metabolism v320.3 pE415-E424
Year:
2021
ORPHAcode / other:
DOI:
10.1152/ajpendo.00401.2020
Keywords:
body composition,bone,delayed puberty,hypogonadotropic hypogonadism,sex steroid deficiency
Possible protective role of metformin therapy on colonic polyps in acromegaly: an exploratory cross-sectional study
Author(s):
Albertelli M, Nazzari E, Dotto A, Grasso LF, Sciallero S, Pirchio R, Rebora A, Boschetti M, Pivonello R, Ricci Bitti S, Colao AAL, Ferone D
Affiliated Institution / ERN:
AOU Federico II - Naples ; IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v184.3 p419-425
Year:
2021
ORPHAcode / other:
ORPHA963
Functional Prognostic value of optical coherence tomography in optic chiasmal decompression: A preliminary study
Author(s):
Mambour N, Maiter D, Duprez T, Costa E, Fomekong E, Raftopoulos C, Bugli C, Boschi A
Affiliated Institution / ERN:
University Hospitals Saint-Luc ;
Condition / Disease:
Sellar and parasellar tumours
Publication:
Journal Français d'Ophtalmologie v44.3 p321-330
Year:
2021
ORPHAcode / other:
ORPHA99408, ORPHA54595, ORPHA2495
DOI:
10.1016/j.jfo.2020.06.041
Keywords:
Chiasmal compression,Compression chiasmatique,Functional predictive value,Ganglion Cell Complex,Optical coherence tomography,Récupération visuelle,Seuil,Threshold,Valeur prédictive fonctionnelle,Visual recovery
New genetics in congenital hypothyroidism
Author(s):
Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine v71.3 p696-705
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s12020-021-02646-9
Keywords:
Congenital hypothyroidism,Dyshormonogenesis,Epigenetics,Genetics,Oligogenism,Thyroid dysgenesis
The prevalence of silent acromegaly in prolactinomas is very low
Author(s):
Bona C, Prencipe N, Jaffrain-Rea ML, Carosi G, Lanzi R, Ambrosio MR, Pasquali D, Vettor R, Cannavò S, Ghigo E, Grottoli S
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v44.3 p531-539
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-020-01338-x
Keywords:
Cabergoline,Dopamine agonists,Prolactinoma,Silent acromegaly
Impact of Long-Term Growth Hormone Replacement Therapy on Metabolic and Cardiovascular Parameters in Adult Growth Hormone Deficiency: Comparison Between Adult and Elderly Patients
Author(s):
Scarano E, Riccio E, Somma T, Arianna R, Romano F, Di Benedetto E, de Alteriis G, Colao A, Di Somma C
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Pituitary deficiency
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA101957
DOI:
10.3389/fendo.2021.635983
Keywords:
cardiovascular,elderly,growth hormone (GH) treatment,hypopituitarism,metabolism
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:
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;
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;
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:
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: