Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Multicenter Analysis of Presacral Neuroendocrine Neoplasms—Clinicopathological Characterization and Treatment Outcomes of a Rare Disease
Author(s):
Matrood S, Apostolidis L, Schrader J, Krug S, Lahner H, Ramaswamy A, Librizzi D, Kender Z, Kröcher A, Kreutzfeldt S, Gress TM, Rinke A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Neuroendocrine Neoplasms
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.3389/fendo.2021.709256
Keywords:
CUP-NET,PRRT,carcinoid,neuroendocrine carcinoma,neuroendocrine tumor,presacral,prognosis,retrorectal
Association between long term exposure to particulate matter and incident hypertension in Spain
Author(s):
Doulatram-Gamgaram V, Valdés S, Maldonado-Araque C, Lago-Sampedro A, Badía-Guillén R, García-Escobar E, García-Serrano S, García-Vivanco M, Garrido JL, Theobald MR, Gil V, Martín-Llorente F, Calle-Pascual A, Bordiu E, Castaño L, Delgado E, Franch-Nadal J, Chaves FJ, Montanya E, Galán-García JL, Aguilera-Venegas G, Soriguer F, Rojo-Martínez G
Affiliated Institution / ERN:
Condition / Disease:
Hypertension
Publication:
Scientific Reports v11.1
Year:
2021
ORPHAcode / other:
A New Clinical Model to Estimate the Pre-Test Probability of Cushing’s Syndrome: The Cushing Score
Author(s):
Parasiliti-Caprino M, Bioletto F, Frigerio T, D’Angelo V, Ceccato F, Ferraù F, Ferrigno R, Minnetti M, Scaroni C, Cannavò S, Pivonello R, Isidori A, Broglio F, Giordano R, Spinello M, Grottoli S, Arvat E
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; University Hospital of Padova ; AOU polyclinic "G.Martino" of Messina ; AOU Federico II - Naples ;
Condition / Disease:
Cushing syndrome
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA553
DOI:
10.3389/fendo.2021.747549
Keywords:
adrenal disease,adrenocorticotrophic hormone,corticosteroids,cortisol,hypercortisolism,pituitary disease
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Author(s):
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ, Dörgeloh BB, Farah RA, Glentis S, Golmard L, Hoyer J, Jahnukainen K, Jewell R, Karow A, Katsibardi K, Kuhlen M, Meinhardt A, Nemes K, Poluha A, Ripperger T, Waespe N, Adlard J, Ahmed M, Brennan B, Dabir T, Evans DG, Kelsey A, Kohut K, Kulkarni A, Murray A, Ong KR, Penn A, Semple T, Woodward ER, van Leeuwaarde RS, Littooij AS, Merks JHM, Rasmussen ÃK, van Santen HM, Smetsers SE
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Familial Cancer v20.4 p337-348
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s10689-021-00264-y
Keywords:
Cancer predisposition syndrome,DICER1,Hereditary,Surveillance
Bone Quality as Measured by Trabecular Bone Score in Normocalcemic Primary Hyperparathyroidism
Author(s):
Naciu AM, Tabacco G, Falcone S, Incognito GG, Chiodini I, Maggi D, Pedone C, Lelli D, Bilezikian JP, Napoli N, Manfrini S, Cesareo R, Palermo A
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Hyperparathyroidism
Publication:
Endocrine Practice v27.10 p992-997
Year:
2021
ORPHAcode / other:
ORPHA181408
DOI:
10.1016/j.eprac.2021.04.884
Keywords:
PTH,TBS,calcium,hyperparathyroidism,normocalcemic hyperparathyroidism,vertebral fractures
Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network
Author(s):
Deflorenne E, Peuchmaur M, Vezzosi D, Ajzenberg C, Brunaud L, Chevalier N, Christin-Maitre S, Decoudier B, Driessens N, Drui DD, Gilly O, Goudet P, Illouz F, Jublanc C, Lefebvre H, Lopez A, Lussey C, Morini A, Raffin-Sanson M, Raingeard I, Renoult-Pierre P, Storey C, Tabarin A, Vantyghem MC, Vidal-Petiot E, Baudin E, Bertherat J, Amar L
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; CHU de Toulouse ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; CHU d'Angers ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Multiple endocrine neoplasia type 2B
Publication:
European Journal of Endocrinology v185.4 p463-474
Year:
2021
ORPHAcode / other:
ORPHA247709
Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)
Author(s):
Siurana JM, Ventura PS, Yeste D, Riaza-Martin L, Arciniegas L, Clemente M, Torres M, Amigó N, Giralt G, Roses-Noguer F, Sabate-Rotes A
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Obesity
Publication:
The American Journal of Cardiology v157 p128-134
Year:
2021
ORPHAcode / other:
5B81.00
Illness-related burden, personal resources and need for support in patients with acromegaly: Results of a focus group analysis
Author(s):
Siegel S, Kirstein CF, Schröder B, Unger N, Kreitschmann-Andermahr I
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Acromegaly
Publication:
Growth Hormone & IGF Research v60-61 p101422
Year:
2021
ORPHAcode / other:
ORPHA963
Distinct Late-Night Salivary Cortisol Cut-Off Values for the Diagnosis of Hypercortisolism
Author(s):
van Baal L, Wichert M, Zwanziger D, Dralle H, Weber F, Kreitschmann-Andermahr I, Führer D, Unger N
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ;
Condition / Disease:
Cushing's disease, Cushing's syndrome
Publication:
Hormone and Metabolic Research v53.10 p662-671
Year:
2021
ORPHAcode / other:
ORPHA96253, ORPHA189427
Detection by fluorescence of pituitary neuroendocrine tumour (PitNET) tissue during endoscopic transsphenoidal surgery using bevacizumab-800CW (DEPARTURE trial): study protocol for a non-randomised, non-blinded, single centre, feasibility and dose-finding trial
Author(s):
Vergeer RA, Postma MR, Schmidt I, Korsten-Meijer AG, Feijen RA, Kruijff S, Nagengast WB, van Dijk JMC, den Dunnen WFA, van Beek AP, Kuijlen JMA, van den Berg G
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Pituitary adenoma
Publication:
BMJ Open v11.10 pe049109
Year:
2021
ORPHAcode / other:
ORPHA99408
Gene expression signatures predict response to therapy with growth hormone
Author(s):
Stevens A, Murray P, De Leonibus C, Garner T, Koledova E, Ambler G, Kapelari K, Binder G, Maghnie M, Zucchini S, Bashnina E, Skorodok J, Yeste D, Belgorosky A, Siguero JL, Coutant R, Vangsøy-Hansen E, Hagenäs L, Dahlgren J, Deal C, Chatelain P, Clayton P
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; IRCCS Ospedale Policlinico San Martino – Genova ; Merkur University Hospital ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; ERN BOND ;
Condition / Disease:
Growth hormone deficiency, Turner syndrome
Publication:
The Pharmacogenomics Journal v21.5 p594-607
Year:
2021
ORPHAcode / other:
ORPHA631, ORPHA881
Circulating adrenomedullin and B-type natriuretic peptide do not predict blood pressure fluctuations during pheochromocytoma resection: a cross-sectional study
Author(s):
Berends AMA, Buitenwerf E, Riphagen IJ, Lenders JWM, Timmers HJLM, Kruijff S, Links TP, van der Horst-Schrivers ANA, Stegeman CA, Eekhoff EMW, Feelders RA, Corssmit EPM, Groote Veldman R, Haak HR, Muller Kobold AC, Kerstens MN
Affiliated Institution / ERN:
University Hospital Essen ; Sestre milosrdnice University Hospital Center ; Universitätsklinikum Schleswig-Holstein ; Universitätsklinikum Tübingen ; University Hospital Aachen ; Ulm University Medical Center ;
Condition / Disease:
Phaeochromocytoma and paraganglioma
Publication:
European Journal of Endocrinology v185.4 p507-514
Year:
2021
ORPHAcode / other:
ORPHA573163
Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis
Author(s):
Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall’Anese C, Ariceta G, Castaño L, Madariaga L
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Pediatric Nephrology v36.10 p3133-3142
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s00467-021-05066-z
Keywords:
ATP6V0A4,ATP6V1B1,Distal renal tubular acidosis,Genotype-phenotype correlation,Growth,Long-term outcome,SLC4A1
Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia
Author(s):
van Rooijen JJ, van Trotsenburg ASP, van de Berg DJ, Zwaveling-Soonawala N, Nieveen van Dijkum EJM, Engelsman AF, Derikx JPM, Mooij CF
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Pediatric Graves disease; thyroid carcinoma;
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA525731; ORPHA100088;
DOI:
10.3389/fendo.2021.717769
Keywords:
Graves’ disease,hypocalcemia,postoperative complications,recurrent laryngeal nerve (RLN) injury,thyroid cancer,thyroidectomy
Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism
Author(s):
Naafs JC, Marchal JP, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.10 pe4231-e4241
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgab209
Keywords:
central hypothyroidism,congenital hypothyroidism,fatigue,neonatal screening,quality of life
Implication of Heterozygous Variants in Genes of the Leptin–Melanocortin Pathway in Severe Obesity
Author(s):
Courbage S, Poitou C, Le Beyec-Le Bihan J, Karsenty A, Lemale J, Pelloux V, Lacorte J, Carel J, Lecomte N, Storey C, De Filippo G, Coupaye M, Oppert J, Tounian P, Clément K, Dubern B
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hôpital Bicêtre ;
Condition / Disease:
Genetic obesity
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.10 p2991-3006
Year:
2021
ORPHAcode / other:
ORPHA77828
Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Author(s):
Pellikaan K, Ben Brahim Y, Rosenberg AGW, Davidse K, Poitou C, Coupaye M, Goldstone AP, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Eldar-Geva T, Hirsch HJ, Gross-Tsur V, Butler MG, Miller JL, van den Berg SAA, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Karolinska University Hospital ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Journal of Clinical Medicine v10.19 p4361
Year:
2021
ORPHAcode / other:
ORPHA739
DOI:
10.3390/jcm10194361
Keywords:
Prader-Willi syndrome,estrogens,hypogonadism,hypothalamus,menstrual cycle,obesity,pituitary gland,puberty
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty
Author(s):
Neocleous V, Fanis P, Toumba M, Gorka B, Kousiappa I, Tanteles GA, Iasonides M, Nicolaides NC, Christou YP, Michailidou K, Nicolaou S, Papacostas SS, Christoforidis A, Kyriakou A, Vlachakis D, Skordis N, Phylactou LA
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ; General Hospital of Athens “LAIKO” ; Aghia Sophia Children’s Hospital ;
Condition / Disease:
Central Precocious Puberty
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA759
DOI:
10.3389/fendo.2021.745048
Keywords:
DLK1,KISS1,KISS1R, MAGEL2,MKRN3,central precocious puberty,next-generation sequencing
Diagnosis and Management of Central Congenital Hypothyroidism
Author(s):
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Affiliated Institution / ERN:
Condition / Disease:
Central Congenital Hypothyroidism
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA442
DOI:
10.3389/fendo.2021.686317
Keywords:
central congenital hypothyroidism,combined pituitary hormone deficiencies,diagnosis,etiology,isolated central congenital hypothyroidism,management,pituitary stalk interruption syndrome
90Y radioembolization in the treatment of neuroendocrine neoplasms: Results of an international multicenter retrospective study.
Author(s):
Schaarschmidt BM, Wildgruber M, Kloeckner R, Nie J, Steinle V, Braat AJAT, Lohoefer F, Kim HS, Lahner H, Weber M, Theysohn J
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ; Azienda USL-IRCCS di Reggio Emilia ; CHU de Toulouse ; University Hospital Florence ;
Condition / Disease:
Neuroendocrine tumours
Publication:
Journal of Nuclear Medicine pjnumed.121.262561
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.2967/jnumed.121.262561
Keywords:
SIRT,neuroendocrine carcinoma,neuroendocrine neoplasm,neuroendocrine tumor,radioembolization,radionuclide therapy
Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions
Author(s):
van den Broek MFM, van Santen HM, Valk GD, Verrijn Stuart AA
Affiliated Institution / ERN:
University Medical Center Utrecht ;
Condition / Disease:
Multiple endocrine neoplasia type 2B
Publication:
Clinical Endocrinology v95.3 p453-459
Year:
2021
ORPHAcode / other:
ORPHA247709
DOI:
10.1111/cen.14536
Keywords:
final height,growth,marfanoid body habitus,multiple endocrine neoplasia type 2B,short stature
Adolescent and Young Adult Urogenital Outcome following Childhood Hypospadias Repair: Perfection Revisited
Author(s):
Tack LJW, Springer A, Riedl S, Tonnhofer U, Hiess M, Weninger J, Mahmoud A, Van Laecke E, Hoebeke P, Cools M, Spinoit A
Affiliated Institution / ERN:
Ghent University Hospital ; Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ;
Condition / Disease:
Non-syndromic hypospadias
Publication:
Journal of Urology v206.3 p734-744
Year:
2021
ORPHAcode / other:
LB53
DOI:
10.1097/JU.0000000000001869
Keywords:
hypospadias,treatment outcome,urologic surgical procedures, male
From microbiota toward gastro-enteropancreatic neuroendocrine neoplasms: Are we on the highway to hell?
Author(s):
Vitale G, Dicitore A, Barrea L, Sbardella E, Razzore P, Campione S, Faggiano A, Colao A, Albertelli M, Altieri B, Bottiglieri F, De Cicco F, Di Molfetta S, Fanciulli G, Feola T, Ferone D, Ferraù F, Gallo M, Giannetta E, Grillo F, Grossrubatscher E, Guadagno E, Guarnotta V, Isidori AM, Lania A, Lenzi A, Calzo FL, Malandrino P, Messina E, Modica R, Muscogiuri G, Pes L, Pizza G, Pofi R, Puliani G, Rainone C, Rizza L, Rubino M, Ruggieri RM, Sesti F, Venneri MA, Zatelli MC
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; AO City of Health and Science - Turin ; Antonio Cardarelli Hospital - Naples ; ERN BOND ;
Condition / Disease:
Neuroendocrine neoplasm
Publication:
Reviews in Endocrine and Metabolic Disorders v22.3 p511-525
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.1007/s11154-020-09589-y
Keywords:
Cytokines,Inflammation,Microbiota,Neuroendocrine tumors,Tumor microenvironment
Occurrence of pituitary hormone deficits in relation to both pituitary and hypothalamic doses after radiotherapy for skull base meningioma
Author(s):
Partoune E, Virzi M, Vander Veken L, Renard L, Maiter D
Affiliated Institution / ERN:
University Hospitals Saint-Luc ;
Condition / Disease:
Meningioma
Publication:
Clinical Endocrinology v95.3 p460-468
Year:
2021
ORPHAcode / other:
ORPHA2495
DOI:
10.1111/cen.14499
Keywords:
brain tumour,endocrine deficit,hypopituitarism,hypothalamus,pituitary,radiotherapy,skull base meningioma
PRRT: identikit of the perfect patient
Author(s):
Albertelli M, Dotto A, Di Dato C, Malandrino P, Modica R, Versari A, Colao A, Ferone D, Faggiano A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Reviews in Endocrine and Metabolic Disorders v22.3 p563-579
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s11154-020-09581-6
Keywords:
Neuroendocrine tumors,Peptide receptor radionuclide therapy,Predictor,Response,Therapeutic sequence
The interplay between metabolic dysregulations and non-alcoholic fatty liver disease in women after menopause
Author(s):
Robeva R, Mladenović D, Vesković M, Hrnčić D, Bjekić-Macut J, Stanojlović O, Livadas S, Yildiz BO, Macut D
Affiliated Institution / ERN:
USHATE “ACAD IVAN Penchev” ;
Condition / Disease:
NAFLD in postmenopausic women
Publication:
Maturitas v151 p22-30
Year:
2021
ORPHAcode / other:
DOI:
10.1016/j.maturitas.2021.06.012
Keywords:
dyslipidemia,estrogen,insulin resistance,menopausal hormonal therapy,menopause,non-alcoholic fatty liver disease
ESE Clinical Practice Guideline on functioning and nonfunctioning pituitary adenomas in pregnancy
Author(s):
A Luger, L H A Broersen, N R Biermasz, B M K Biller, M Buchfelder, P Chanson, J O L Jorgensen, F Kelestimur, S Llahana, D Maiter, G Mintziori, F Petraglia, R Verkauskiene, S M Webb, O M Dekkers
Affiliated Institution / ERN:
Condition / Disease:
Publication:
European Journal of Endocrinology 185(3):G1-G33. doi: 10.1530/EJE-21-0462
Year:
2021
ORPHAcode / other:
Outcome Squares Integrating Efficacy and Safety, as Applied to Functioning Pituitary Adenoma Surgery
Author(s):
de Vries F, Lobatto DJ, Verstegen MJT, Schutte PJ, Notting IC, Kruit MC, Ahmed SF, Pereira AM, van Furth WR, Biermasz NR
Affiliated Institution / ERN:
Leiden University Medical Center ;
Condition / Disease:
Functioning pituitary adenoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.9 pe3300-e3311
Year:
2021
ORPHAcode / other:
ORPHA314753
DOI:
10.1210/clinem/dgab138
Keywords:
Pituitary adenoma,outcomes,patient counselling,transsphenoidal surgery
Hyperprolactinemia in Adults with Prader-Willi Syndrome
Author(s):
Sjöström A, Pellikaan K, Sjöström H, Goldstone AP, Grugni G, Crinò A, De Graaff LCG, Höybye C
Affiliated Institution / ERN:
Karolinska University Hospital ; Erasmus MC: University Medical Center Rotterdam ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Journal of Clinical Medicine v10.16 p3613
Year:
2021
ORPHAcode / other:
ORPHA739
Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study
Author(s):
García-Escobar E, Valdés S, Soriguer F, Vendrell J, Urrutia-Etxebarria IM, Maldonado-Araque C, Ortega E, Ocón P, Montanya E, Menéndez E, Lago-Sampedro A, González-Frutos T, Gomis R, Goday A, García-Serrano S, Galán-García JL, Castell C, Bordiú E, Badía R, Aguilera-Venegas G, Girbés J, Gaztambide S, Delgado E, Chaves FJ, Castaño L, Calle-Pascual A, Rojo-Martínez G, Franch-Nadal J
Affiliated Institution / ERN:
Hospital Universitario Cruces ;
Condition / Disease:
Type 2 diabetes mellitus
Publication:
Scientific Reports v11.1
Year:
2021
ORPHAcode / other:
5A10