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    • MTG6Hypothalamic and Pituitary Conditions
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    • MTG8Thyroid
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

Filter list of publications

890 publication(s) found matching the search criteria

Rare genetic forms of obesity: From gene to therapy


Author(s): Clément K, Mosbah H, Poitou C
Affiliated Institution / ERN:
Condition / Disease: Genetic obesity
Publication: Physiology & Behavior v227 p113134 Year: 2020 ORPHAcode / other: OPRHA77828
DOI: 10.1016/j.physbeh.2020.113134 Keywords: Genetics,Leptin-melanocortin pathway,Monogenic non-syndromic,Obesity
MTG5

Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials


Author(s): Clément K, van den Akker E, Argente J, Bahm A, Chung WK, Connors H, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon G, Kohlsdorf K, Poitou C, Puder L, Swain J, Stewart M, Yuan G, Wabitsch M, Kühnen P, Pigeon-Kherchiche P, Flaus-Furmaniuk A, Bald M, Denzer C, von Schnurbein J, Abawi O, Blume-Peytavi U, Krabusch P, Mai K, Schnabel D, Wiegand S, Flück CE, Schulz E, Voss E, Bratina N, Weiss K, Martos-Moreno GÃ, Danset A, Gougis P, Dubern B, Clément K, van den Akker EL, Argente J, Bahm AL, Chung WK, Connors HS, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon GA, Poitou C, Puder L, Swain JM, Stewart MW, Yuan G, Wabitsch M, Kühnen P
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Erasmus MC: University Medical Center Rotterdam ; Ghent University Hospital ; Ulm University Medical Center ; Charité Universitätsmedizin Berlin ;
Condition / Disease: Non-Syndromic Genetic Obesity - Other
Publication: The Lancet Diabetes & Endocrinology v8.12 p960-970 Year: 2020 ORPHAcode / other: ORPHA98267
DOI: 10.1016/S2213-8587(20)30364-8 Keywords:
MTG6

Insulinpumpe, kontinuierliche und kapilläre Glukosemessung bei Kindern, Jugendlichen und Erwachsenen mit Diabetes mellitus: Daten des DPV-Registers zwischen 1995 und 2019


Author(s): Schöttler H, Auzanneau M, Best F, Braune K, Freff M, Heidtmann B, Jung R, Karges B, Klee D, Müller A, Schierloh U, Vogel C, Holl RW
Affiliated Institution / ERN:
Condition / Disease: Diabetes Mellits
Publication: Diabetologie und Stoffwechsel v15.06 p477-486 Year: 2020 ORPHAcode / other: 5A10
DOI: 10.1055/a-1259-1190 Keywords: insulin pump; continuous glucose monitoring; diabetes mellitus; CGM; CSII;
MTG3

Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data


Author(s): Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, Imbriaco M, Feriozzi S, Pisani A, Pisani A, Riccio E, Cocozza S, Santoro C, Esposito R, Imbriaco M, Russo C, Di Risi T, Chiariotti L, Spinelli L, Pontillo A, Cuocolo A, Cennamo G, Colao A
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: Fabry disease
Publication: European Journal of Human Genetics v28.12 p1662-1668 Year: 2020 ORPHAcode / other: ORPHA:324
DOI: 10.1038/s41431-020-0677-x Keywords:

Multidisciplinary management of acromegaly: A consensus


Author(s): Giustina A, Barkhoudarian G, Beckers A, Ben-Shlomo A, Biermasz N, Biller B, Boguszewski C, Bolanowski M, Bollerslev J, Bonert V, Bronstein MD, Buchfelder M, Casanueva F, Chanson P, Clemmons D, Fleseriu M, Formenti AM, Freda P, Gadelha M, Geer E, Gurnell M, Heaney AP, Ho KKY, Ioachimescu AG, Lamberts S, Laws E, Losa M, Maffei P, Mamelak A, Mercado M, Molitch M, Mortini P, Pereira AM, Petersenn S, Post K, Puig-Domingo M, Salvatori R, Samson SL, Shimon I, Strasburger C, Swearingen B, Trainer P, Vance ML, Wass J, Wierman ME, Yuen KCJ, Zatelli MC, Melmed S
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Reviews in Endocrine and Metabolic Disorders v21.4 p667-678 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11154-020-09588-z Keywords: Acromegaly,Consensus,Medical therapy,Multidisciplinary management,Pituitary tumor centers of excellence,Radiotherapy,Surgery
MTG6

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench


Author(s): Bergen DJ, Maurizi A, Formosa MM, McDonald GL, El-Gazzar A, Hassan N, Brandi M, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication: Journal of Bone and Mineral Research v38.2 p229-247 Year: 2020 ORPHAcode / other:
DOI: 10.1002/jbmr.4715 Keywords: ANABOLICS,ANIMAL MODELS,CELL/TISSUE SIGNALING,DISEASES AND DISORDERS OF/RELATED TO BONE,GENETIC ANIMAL MODELS,GENETIC RESEARCH,PARACRINE PATHWAYS,THERAPEUTICS

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen


Author(s): Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication: Journal of Bone and Mineral Research v37.9 p1623-1641 Year: 2020 ORPHAcode / other:
DOI: 10.1002/jbmr.4668 Keywords: BONE HISTOMORPHOMETRY,BONE MODELING AND REMODELING,GENETIC RESEARCH,OSTEOPOROSIS,WNT/β-CATENIN/LRPS

Comaneci-Assisted Coiling as a Treatment Option for Acutely Ruptured Wide Neck Cerebral Aneurysm: Case Series of 118 Patients


Author(s): Sirakov A, Minkin K, Penkov M, Ninov K, Karakostov V, Sirakov S
Affiliated Institution / ERN:
Condition / Disease:
Publication: Neurosurgery v87.6 p1148-1156 Year: 2020 ORPHAcode / other:
DOI: 10.1093/neuros/nyaa200 Keywords: Bifurcation aneurysms,Coil embolization,Comaneci device,Endovascular remodeling,Wide-necked aneurysms

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement


Author(s): Rossi A, Simeoli C, Salerno M, Ferrigno R, Della Casa R, Colao A, Strisciuglio P, Parenti G, Pivonello R, Melis D
Affiliated Institution / ERN:
Condition / Disease:
Publication: Orphanet Journal of Rare Diseases v15.1 Year: 2020 ORPHAcode / other:
DOI: 10.1186/s13023-020-01377-w Keywords: 11βHSD1,Autoimmune,Cholesterol,Cortisol,Insulin-resistance

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic


Author(s): Brizola E, Adami G, Baroncelli GI, Bedeschi MF, Berardi P, Boero S, Brandi ML, Casareto L, Castagnola E, Fraschini P, Gatti D, Giannini S, Gonfiantini MV, Landoni V, Magrelli A, Mantovani G, Michelis MB, Nasto LA, Panzeri L, Pianigiani E, Scopinaro A, Trespidi L, Vianello A, Zampino G, Sangiorgi L
Affiliated Institution / ERN: ERN BOND ; AOU-Bologna ; AOUI Verona ; AOU Pisan ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; IRCCS Istituto Giannina Gaslini, Genova ; University Hospital of Padova ;
Condition / Disease: Rare bone disease
Publication: Orphanet Journal of Rare Diseases v15.1 Year: 2020 ORPHAcode / other: ORPHA93419
DOI: 10.1186/s13023-020-01513-6 Keywords: 2019-nCoV,Bone diseases,COVID-19,Care,Coronavirus,ERN,Rare diseases,Remote

Asymmetry indicates more severe and active disease in Graves’ orbitopathy: results from a prospective cross-sectional multicentre study


Author(s): Perros P, Žarković MP, Panagiotou GC, Azzolini C, Ayvaz G, Baldeschi L, Bartalena L, Boschi AM, Nardi M, Brix TH, Covelli D, Daumerie C, Eckstein AK, Fichter N, Ćirić S, Hegedüs L, Kahaly GJ, Konuk O, Lareida JJ, Okosieme OE, Leo M, Mathiopoulou L, Clarke L, Menconi F, Morris DS, Orgiazzi J, Pitz S, Salvi M, Muller I, Knežević M, Wiersinga WM, Currò N, Dayan CM, Marcocci C, Marinò M, Möller L, Pearce SH, Törüner F, Bernard M
Affiliated Institution / ERN:
Condition / Disease: Graves disease
Publication: Journal of Endocrinological Investigation v43.12 p1717-1722 Year: 2020 ORPHAcode / other: E05.0
DOI: 10.1007/s40618-020-01258-w Keywords: Asymmetric,Graves’,Orbitopathy,Thyroid,Unilateral
MTG8

Safety of current recombinant human growth hormone treatments for adults with growth hormone deficiency and unmet needs


Author(s): Höybye C, Beck-Peccoz P, Simsek S, Zabransky M, Zouater H, Stalla G, Murray RD
Affiliated Institution / ERN:
Condition / Disease: Growth Hormone Deficiency
Publication: Expert Opinion on Drug Safety v19.12 p1539-1548 Year: 2020 ORPHAcode / other: ORPHA101957
DOI: 10.1080/14740338.2020.1839410 Keywords: Growth hormone,adults,growth hormone replacement,safety
MTG6

Serotonin pathway in carcinoid syndrome: Clinical, diagnostic, prognostic and therapeutic implications


Author(s): Fanciulli G, Ruggeri RM, Grossrubatscher E, Calzo FL, Wood TD, Faggiano A, Isidori A, Colao A
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: Carcinoid syndrome
Publication: Reviews in Endocrine and Metabolic Disorders v21.4 p599-612 Year: 2020 ORPHAcode / other: ORPHA100093
DOI: 10.1007/s11154-020-09547-8 Keywords: Analytical methods,Carcinoid syndrome,Neuroendocrine neoplasm,Serotonin pathway,Telotristat

The optimal numerosity of the referral population of pituitary tumors centers of excellence (PTCOE): A surgical perspective


Author(s): Mortini P, Nocera G, Roncelli F, Losa M, Formenti AM, Giustina A
Affiliated Institution / ERN:
Condition / Disease: Pituitary adenoma
Publication: Reviews in Endocrine and Metabolic Disorders v21.4 p527-536 Year: 2020 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s11154-020-09564-7 Keywords: Learning curve,Pituitary adenomas,Pituitary surgery,Pituitary tumor center of excellence
MTG6

ENDOCRINE TUMOURS: Calcitonin in thyroid and extra-thyroid neuroendocrine neoplasms: the two-faced Janus


Author(s): Giannetta E, Guarnotta V, Altieri B, Sciammarella C, Guadagno E, Malandrino P, Puliani G, Feola T, Isidori AM, Colao AAL, Faggiano A
Affiliated Institution / ERN: AOUI Verona ; AOU Federico II - Naples ; ERN BOND ;
Condition / Disease: Neuroendocrine Neoplasm
Publication: European Journal of Endocrinology v183.6 pR197-R215 Year: 2020 ORPHAcode / other: ORPHA877
DOI: 10.1530/EJE-20-0506 Keywords:
MTG8

Enfermedad de Graves con autoanticuerpos contra el receptor de la TSH negativos: a propósito de 5 casos


Author(s): Scatti Regàs A, Pujol Borrell R, Ferrer Costa R, Puerto Carranza E, Clemente León M
Affiliated Institution / ERN:
Condition / Disease: Paediatric-onset Graves disease
Publication: Anales de Pediatría v93.6 p417-419 Year: 2020 ORPHAcode / other: ORPHA525731
DOI: 10.1016/j.anpedi.2020.01.008 Keywords:
MTG8

Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome


Author(s): Shukur HH, de Rijke YB, van Rossum EFC, Hussain-Alkhateeb L, Höybye C
Affiliated Institution / ERN:
Condition / Disease: Prader-Willi syndrome
Publication: BMC Endocrine Disorders v20.1 Year: 2020 ORPHAcode / other: ORPHA739
DOI: 10.1186/s12902-020-00646-w Keywords: Chronic stress,Hair cortisol,Obesity,Prader-Willi syndrome
MTG5

Procathepsin V Is Secreted in a TSH Regulated Manner from Human Thyroid Epithelial Cells and Is Accessible to an Activity-Based Probe


Author(s): Al-Hashimi A, Venugopalan V, Rehders M, Sereesongsaeng N, Hein Z, Springer S, Weber E, Führer D, Bogyo MS, Scott CJ, Burden RE, Brix K
Affiliated Institution / ERN:
Condition / Disease: Thyroid hormone metabolism
Publication: International Journal of Molecular Sciences v21.23 p9140 Year: 2020 ORPHAcode / other:
DOI: 10.3390/ijms21239140 Keywords: cysteine cathepsins,green fluorescent protein tagging,protein trafficking,secretion,thyroid epithelial cells,thyroid stimulating hormone
MTG8

Hypertension in Acromegaly in Relationship to Biochemical Control and Mortality: Global ACROSTUDY Outcomes


Author(s): Vila G, Luger A, van der Lely AJ, Neggers SJCMM, Webb SM, Biller BMK, Valluri S, Hey-Hadavi J
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; Hospital de la Santa Creu i Sant Pau ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ;
Condition / Disease: Acromegaly
Publication: Frontiers in Endocrinology v11 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.3389/fendo.2020.577173 Keywords: acromegaly,cardiovascular disease,hypertension,hypopituitarism,mortality,pegvisomant,prognosis
MTG6

Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism


Author(s): Roeper M, Salimi Dafsari R, Hoermann H, Mayatepek E, Kummer S, Meissner T
Affiliated Institution / ERN: Universitätsklinikum Düsseldorf ;
Condition / Disease: Diazoxide-sensitive diffuse hyperinsulinism
Publication: Frontiers in Endocrinology v11 Year: 2020 ORPHAcode / other: ORPHA165985
DOI: 10.3389/fendo.2020.580642 Keywords: brain injury,hyperinsulinism,hypoglycemia,neurodevelopment,outcome,risk factors
MTG3

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes


Author(s): Salma R Ali,Jillian Bryce, Li En Tan, Olaf Hiort, Alberto M Pereira,Erica L T van den Akker,Natasha M Appelman-Dijkstra,Jerome Bertherat,Martine Cools, Olaf M Dekkers,Yllka Kodra, Luca Persani, Arlene Smyth, Christopher Smythe, Domenica Taruscio and S Faisal Ahmed
Affiliated Institution / ERN: Universitätsklinikum Schleswig-Holstein ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Ghent University Hospital ; IRCCS Auxologico Italian Institute - Milan ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease: Rare Endocrine Conditions
Publication: International Journal of Environmental Research and Public Health Volume 17 / Issue 23 / 10.3390/ijerph17238743 Year: 2020 ORPHAcode / other: ORPHA97978
DOI: 10.3390/ijerph17238743 Keywords: European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

Editorial: Current Clinical and Pre-Clinical Progress in Cushing’s Disease


Author(s): Stalla GK, Arzt E, Losa M, Renner U
Affiliated Institution / ERN:
Condition / Disease: Cushing disease
Publication: Frontiers in Endocrinology v11 Year: 2020 ORPHAcode / other: ORPHA96253
DOI: 10.3389/fendo.2020.612321 Keywords: Cushing’s disease,Cushing’s syndrome,diagnostic score,drug targets,medical therapy,quality of life
MTG6

Thyroidectomy in Pediatric Patients with Graves’ Disease: A Systematic Review of Postoperative Morbidity


Author(s): Zaat AS, Derikx JP, Zwaveling-Soonawala N, van Trotsenburg AP, Mooij CF
Affiliated Institution / ERN: Amsterdam UMC ;
Condition / Disease: Paediatric-onset Graves disease
Publication: European Thyroid Journal p1-13 Year: 2020 ORPHAcode / other: ORPHA525731
DOI: 10.1159/000511345 Keywords: Graves' disease,Pediatric Graves' disease,Postoperative morbidity,Thyroidectomy
MTG8

Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity


Author(s): Jauregibeitia I, Portune K, Rica I, Tueros I, Velasco O, Grau G, Trebolazabala N, Castaño L, Larocca AV, Ferreri C, Arranz S
Affiliated Institution / ERN: Hospital Universitario Cruces ; AOU-Bologna ;
Condition / Disease: Childhood obesity
Publication: Nutrients v12.11 p3446 Year: 2020 ORPHAcode / other: 5B81.00
DOI: 10.3390/nu12113446 Keywords: childhood obesity,inflammation,membrane lipidome,omega-6 fatty acids,red blood cell
MTG5

Plasma branched chain amino acids are lower in short-term profound hypothyroidism and increase in response to thyroid hormone supplementation


Author(s): van der Boom T, Gruppen EG, Lefrandt JD, Connelly MA, Links TP, Dullaart RP
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: Scandinavian Journal of Clinical and Laboratory Investigation v80.7 p562-566 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1080/00365513.2020.1804610 Keywords: Branched chain amino acids,cardiometabolic disease,differentiated thyroid carcinoma,hypothyroidism,thyroid-stimulating hormone
MTG8

Inferior outcome of neuroendocrine tumor patients negative on somatostatin receptor imaging


Author(s): Refardt J, Zandee WT, Brabander T, Feelders RA, Franssen GJH, Hofland LJ, Christ E, de Herder WW, Hofland J
Affiliated Institution / ERN: Universitätsklinikum Schleswig-Holstein ; ERN BOND ;
Condition / Disease: Neuroendocrine Tumours
Publication: Endocrine-Related Cancer v27.11 p615-624 Year: 2020 ORPHAcode / other: ORPHA877
DOI: 10.1530/ERC-20-0340 Keywords: neuroendocrine tumor,propensity score,somatostatin receptor,survival

MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity


Author(s): Poitou C, Mosbah H, Clément K
Affiliated Institution / ERN:
Condition / Disease: Genetic obesity
Publication: European Journal of Endocrinology v183.5 pR149-R166 Year: 2020 ORPHAcode / other: ORPHA77828
DOI: 10.1530/EJE-20-0363 Keywords:
MTG5

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis


Author(s): García‐Castaño A, Perdomo‐Ramirez A, Vall‐Palomar M, Ramos‐Trujillo E, Madariaga L, Ariceta G, Claverie‐Martin F
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: FHHNC
Publication: Molecular Genetics & Genomic Medicine v8.11 Year: 2020 ORPHAcode / other: ORPHA306516
DOI: 10.1002/mgg3.1475 Keywords: CLDN16,QMPSF,claudin-16,deletion,hypomagnesemia,novel mutations

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma


Author(s): Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo A
Affiliated Institution / ERN:
Condition / Disease: Von Hippel-Lindau disease
Publication: Journal of Medical Genetics v57.11 p752-759 Year: 2020 ORPHAcode / other: ORPHA892
DOI: 10.1136/jmedgenet-2019-106519 Keywords: cryptic exon,paraganglioma,von Hippel-Lindau
MTG4

Akt1 genetic variants confer increased susceptibility to thyroid cancer


Author(s): Crezee T, Petrulea M, Piciu D, Jaeger M, Smit JWA, Plantinga TS, Georgescu CE, Netea-Maier R
Affiliated Institution / ERN:
Condition / Disease: Non-medullary thyroid carcinoma
Publication: Endocrine Connections v9.11 p1065-1074 Year: 2020 ORPHAcode / other: ORPHA142
DOI: 10.1530/EC-20-0311 Keywords: PI3K/Akt/mTOR,genetic variation,non-medullary thyroid cancer,susceptibility
MTG8
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You have the right to be forgotten and removed completely from the Endo-ERN contact database. To request this, please contact the Endo-ERN coordinating office.

Endo-ERN Coordinating Center, Meibergdreef 9, 1105 AZ  AMSTERDAM. The Netherlands

 info@endo-ern.eu
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