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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

A Randomized, Controlled Trial of Liraglutide for Adolescents with Obesity


Author(s): Kelly AS, Auerbach P, Barrientos-Perez M, Gies I, Hale PM, Marcus C, Mastrandrea LD, Prabhu N, Arslanian S
Affiliated Institution / ERN:
Condition / Disease: Obesity
Publication: New England Journal of Medicine v382.22 p2117-2128 Year: 2020 ORPHAcode / other: 5B81.00
DOI: 10.1056/NEJMoa1916038 Keywords:
MTG5

Eucaloric Very-Low-Carbohydrate Ketogenic Diet in Acromegaly Treatment


Author(s): Coopmans EC, Berk KA, El-Sayed N, Neggers SJ, van der Lely AJ
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: New England Journal of Medicine v382.22 p2161-2162 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1056/NEJMc1915808 Keywords:
MTG6

IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity


Author(s): Kaleviste E, Rühlemann M, Kärner J, Haljasmägi L, Tserel L, Org E, Trebušak Podkrajšek K, Battelino T, Bang C, Franke A, Peterson P, Kisand K
Affiliated Institution / ERN: ERN BOND ; ERN BOND ;
Condition / Disease: APECED
Publication: Frontiers in Immunology v11 Year: 2020 ORPHAcode / other: ORPHA3453;
DOI: 10.3389/fimmu.2020.00838 Keywords: AIRE,APECED,IL-22,microbiota,oral mucosa

An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria


Author(s): de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, Biermasz NR, Hiort O, Pereira AM
Affiliated Institution / ERN: Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Universitätsklinikum Schleswig-Holstein ;
Condition / Disease: ERNs
Publication: European Journal of Endocrinology Volume 183, 2020, Issue 2 Year: 2020 ORPHAcode / other: ORPHA97978
DOI: 10.1530/EJE-20-0197 Keywords: European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

Hypophosphataemic Rickets: Similar Phenotype of Different Diseases


Author(s): de la Cerda-Ojeda F, González-Rodríguez JD, Madariaga L, Martínez-Díaz-Guerra G, Matoses-Ruipérez ML
Affiliated Institution / ERN:
Condition / Disease: Hypophosphataemic rickets
Publication: Advances in Therapy v37.S2 p80-88 Year: 2020 ORPHAcode / other: ORPHA437
DOI: 10.1007/s12325-019-01182-3 Keywords: Cutaneous skeletal hypophosphataemia syndrome,Differential diagnosis,Hypophosphataemic rickets,McCune–Albright syndrome,Oncogenic osteomalacia,Orthopaedics
MTG2

Growth Hormone Therapy Does Not Increase the Risk of Craniopharyngioma and Nonfunctioning Pituitary Adenoma Recurrence


Author(s): Losa M, Castellino L, Pagnano A, Rossini A, Mortini P, Lanzi R
Affiliated Institution / ERN:
Condition / Disease: Craniopharyngioma, non-functioning pituitary adenoma
Publication: The Journal of Clinical Endocrinology & Metabolism v105.5 p1573-1580 Year: 2020 ORPHAcode / other: ORPHA54595, ORPHA91349
DOI: 10.1210/clinem/dgaa089 Keywords: growth hormone deficiency,hypopituitarism,pituitary neoplasm,pituitary surgery
MTG6

Thigh Muscle Fat Infiltration Is Associated With Impaired Physical Performance Despite Remission in Cushing’s Syndrome


Author(s): Martel-Duguech L, Alonso-Jiménez A, Bascuñana H, Díaz-Manera J, Llauger J, Nuñez-Peralta C, Biagetti B, Montesinos P, Webb SM, Valassi E
Affiliated Institution / ERN:
Condition / Disease: Cushing’s Syndrome
Publication: The Journal of Clinical Endocrinology & Metabolism v105.5 pe2039-e2049 Year: 2020 ORPHAcode / other: ORPHA553
DOI: 10.1210/clinem/dgz329 Keywords: Cushing’s syndrome,fatty infiltration,muscle,muscle performance
MTG1 MTG6

Primary sellar melanocytoma: pathological, clinical and treatment review


Author(s): Albano L, Losa M, Barzaghi LR, Spatola G, Panni P, Terreni MR, Mortini P
Affiliated Institution / ERN:
Condition / Disease: Acquired pituitary hormone deficiency
Publication: Journal of Endocrinological Investigation v43.5 p575-585 Year: 2020 ORPHAcode / other: ORPHA95502
DOI: 10.1007/s40618-019-01158-8 Keywords: Leptomeningeal melanocytes,Pituitary tumor,Primary melanocytic brain tumors,Sellar melanocytoma,Transsphenoidal surgery
MTG6

New Epidemiological, Clinical and Economic Data for Patients With Acromegaly in Bulgaria


Author(s): Kamusheva M, Vandeva S, Mitov K, Rusenova Y, Elenkova A, Zacharieva S, Mitkova Z, Tachkov K, Dimitrova M, Doneva M, Tcharaktchiev D, Petrova G
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Frontiers in Public Health v8 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.3389/fpubh.2020.00147 Keywords: Bulgaria,acromegaly,costs,epidemiology,treatment
MTG6

Acromegaly and joint pain: is there something more? A cross-sectional study to evaluate rheumatic disorders in growth hormone secreting tumor patients


Author(s): N Prencipe, M Scarati, T Manetta, A M Berton, S Parisi, C Bona, M Parasiliti-Caprino, M C Ditto, V Gasco, E Fusaro & S Grottoli
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Journal of Endocrinological Investigation 2020 43:1661–1667 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1007/s40618-020-01268-8 Keywords: IGF-I; Joint; Microvascular; Pituitary; Rheumatic factor;
MTG5 MTG6

The Sun’s Vitamin in Adult Patients Affected by Prader–Willi Syndrome


Author(s): Barrea L, Muscogiuri G, Pugliese G, Aprano S, de Alteriis G, Di Somma C, Colao A, Savastano S
Affiliated Institution / ERN:
Condition / Disease: Prader-Willi syndrome
Publication: Nutrients v12.4 p1132 Year: 2020 ORPHAcode / other: ORPHA739
DOI: 10.3390/nu12041132 Keywords: Prader–Willi syndrome (PWS),dietary vitamin D intake,fat mass,nutritionist,obesity,vitamin D
MTG5

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.


Author(s): Bever Y, Brüggenwirth H, Wolffenbuttel K, Dessens A, Groenenberg I, Knapen M, De Baere E, Cools M, van Ravenswaaij-Arts C, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema S
Affiliated Institution / ERN:
Condition / Disease: DSD
Publication: Journal of Medical Genetics Published Online First: 17 April 2020. doi: 10.1136/jmedgenet-2019-106354 Year: 2020 ORPHAcode / other: ORPHA90771; ORPHA2982; ORPHA98085; ORPHA325546;
DOI: 10.1136/jmedgenet-2019-106354 Keywords: DSD; NGS; diagnostic; guideline; prenatal;
MTG7

Prognostic Significance of Thyroglobulin Antibodies in Differentiated Thyroid Cancer


Author(s): Reverter JL, Rosas-Allende I, Puig-Jove C, Zafon C, Megia A, Castells I, Pizarro E, Puig-Domingo M, Granada ML
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: Journal of Thyroid Research v2020 p1-6 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1155/2020/8312628 Keywords:
MTG8

Bone Metabolism and Vitamin D Implication in Gastroenteropancreatic Neuroendocrine Tumors


Author(s): Altieri B, Di Dato C, Modica R, Bottiglieri F, Di Sarno A, Pittaway JF, Martini C, Faggiano A, Colao A
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: Gastroenteropancreatic neuroendocrine neoplasm
Publication: Nutrients v12.4 p1021 Year: 2020 ORPHAcode / other: ORPHA100092
DOI: 10.3390/nu12041021 Keywords: MEN1,bone,cortisol,miRNA,mineral bone density,neuroendocrine tumor,osteoporosis,serotonin,therapy,vitamin D
MTG4

Serum 25-hydroxyvitamin D concentration in childhood and risk of islet autoimmunity and type 1 diabetes: the TRIGR nested case–control ancillary study


Author(s): Miettinen ME, Niinistö S, Erlund I, Cuthbertson D, Nucci AM, Honkanen J, Vaarala O, Hyöty H, Krischer JP, Knip M, Virtanen SM
Affiliated Institution / ERN:
Condition / Disease: Type 1 diabetes mellitus
Publication: Diabetologia v63.4 p780-787 Year: 2020 ORPHAcode / other: 5A10
DOI: https://doi.org/10.1007/s00125-019-05077-4 Keywords: serum 25-hydroxyvitamin D (25OHD) concentration; islet autoimmunity; type 1 diabetes, children; postnatal vitamin D;
MTG3

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants


Author(s): Malikova J, Kaci A, Dusatkova P, Aukrust I, Torsvik J, Vesela K, Kankova PD, Njølstad PR, Pruhova S, Bjørkhaug L
Affiliated Institution / ERN: University Hospital Motol ; Bergen Hospital Trust ;
Condition / Disease: Monogenic diabetes
Publication: The Journal of Clinical Endocrinology & Metabolism v105.4 pe1377-e1386 Year: 2020 ORPHAcode / other: ORPHA99885
DOI: 10.1210/clinem/dgaa051 Keywords: ACMG classification,HNF1A-MODY,functional study,hepatocyte nuclear factor-1 alpha variants,reclassification
MTG3

Clinico–pathological features, treatments and survival of malignant insulinomas: a multicenter study


Author(s): Veltroni A, Cosaro E, Spada F, Fazio N, Faggiano A, Colao A, Pusceddu S, Zatelli MC, Campana D, Piovesan A, Pia A, Grossrubatscher EM, Filice A, Bianchi A, Razzore P, Toaiari M, Cingarlini S, Landoni L, Micciolo R, Davì MV
Affiliated Institution / ERN:
Condition / Disease: Malignant insulinoma
Publication: European Journal of Endocrinology v182.4 p439-446 Year: 2020 ORPHAcode / other: ORPHA97279
DOI: 10.1530/EJE-19-0989 Keywords:

Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial


Author(s): Sävendahl L, Battelino T, Brod M, Højby Rasmussen M, Horikawa R, Juul RV, Saenger P, Furthner D, Piringer B, Auer-Hackenberg L, Schmitt K, Reitmayr M, Bronstein MD, Lima FSM, Wabitsch M, Posovszky C, Böttcher V, Mann A, Hershkovitz E, Haim A, Lowenthal N, Hamiel O, Levin SS, Mazor-Aronovitch K, Ben-Ami M, Shraga YL, Modan D, Gruber N, Phillip M, Lebenthal Y, Tenenbaum A, Eliakim A, Dror N, Haviv R, Zuckerman-Levin N, Shehadeh N, Givon L, Elemy A, Marji M, Gepstein V, Praveen VP, Aswin P, Abraham N, Khadgawat R, Gupta Y, Khadilkar V, Khadilkar A, Lad S, Horikawa R, Naiki Y, Ogiwara Y, Chiba Y, Fujisawa Y, Terada Y, Yoshida T, Kinjo K, Tsukamura A, Ida S, Etani Y, Shoji Y, Kawai M, Nakajima H, Mori J, Fukuhara S, Shigehara K, Morimoto H, Tsuma Y, Kawabe Y, Ota T, Kashimada K, Nakagawa R, Tsuji A, Nomura R, Takasawa K, Yamauchi T, Ishii K, Toda N, Ohkubo K, Yorifuji T, Hosokawa Y, Kawakita R, Hashimoto Y, Sakakibara A, Higuchi S, Soneda S, Ogushi K, Yatsuga S, Koga Y, Matsumoto T, Kitamura M, Sävendahl L, Nergårdh R, Battelino T, Tansek MZ, Turan S, Bereket A, Atay Z, Akbarzade A, Bolshova O, Tronko M, Vyshnevskaya O, Sprynchuk N, Lukashuk I, Muz N, Marchenko T, Chorna N, Konovalova M, Zelinska L, Silverman L, Cerame B, Cheruvu S, Chin D, Ebner-Lyon L, Fox M, Nicolette-Gentile M, Sabanosh K, Starkman H, Marshall I, Gangat M, Balachandar S, Backeljauw P, Dauber A, Tyzinski L, Saenger PH, Siliezar LZ, Velasco JP, Ross JL, Bardsley M, Kowal K, Kletter GB, Frazier BG, Garrison K
Affiliated Institution / ERN:
Condition / Disease: Growth Hormone Deficiency
Publication: The Journal of Clinical Endocrinology & Metabolism v105.4 pe1847-e1861 Year: 2020 ORPHAcode / other: ORPHA101957
DOI: 10.1210/clinem/dgz310 Keywords: growth hormone,growth hormone deficiency,growth hormone replacement therapy,long-acting growth hormone,somapacitan,treatment burden
MTG6

Navigation Fractures, Bone Mineral Density, and Final Height in Craniopharyngioma Patients with a Follow-up of 16 Years


Author(s): van Santen SS, Olsson DS, van den Heuvel-Eibrink MM, Wijnen M, Hammarstrand C, Janssen JAMJL, Johannsson G, van der Lely AJ, Neggers SJCMM
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; Sahlgrenska University Hospital ; University Medical Center Utrecht ;
Condition / Disease: Craniopharyngioma
Publication: The Journal of Clinical Endocrinology & Metabolism v105.4 pe1397-e1407 Year: 2020 ORPHAcode / other: ORPHA54595
DOI: 10.1210/clinem/dgz279 Keywords: bone health,bone mineral density,craniopharyngioma,final height,fractures
MTG6

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype


Author(s): Parween S, Fernández-Cancio M, Benito-Sanz S, Camats N, Rojas Velazquez MN, López-Siguero J, Udhane SS, Kagawa N, Flück CE, Audí L, Pandey AV
Affiliated Institution / ERN:
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: The Journal of Clinical Endocrinology & Metabolism v105.4 pe1272-e1290 Year: 2020 ORPHAcode / other: ORPHA418
DOI: 10.1210/clinem/dgaa076 Keywords: CY19A1,CYP17A1,CYP21A2,POR,PORD,congenital adrenal hyperplasia
MTG7

Association between biochemical control and comorbidities in patients with acromegaly: an Italian longitudinal retrospective chart review study


Author(s): Colao A, Grasso LFS, Di Cera M, Thompson-Leduc P, Cheng WY, Cheung HC, Duh MS, Neary MP, Pedroncelli AM, Maamari R, Pivonello R
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Journal of Endocrinological Investigation v43.4 p529-538 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1007/s40618-019-01138-y Keywords: Acromegaly,Comorbidity,Growth hormone,Insulin-like growth factor I,Pituitary diseases
MTG6

Serum 25-hydroxyvitamin D concentration in childhood and risk of islet autoimmunity and type 1 diabetes: the TRIGR nested case–control ancillary study


Author(s): Miettinen ME, Niinistö S, Erlund I, Cuthbertson D, Nucci AM, Honkanen J, Vaarala O, Hyöty H, Krischer JP, Knip M, Virtanen SM
Affiliated Institution / ERN:
Condition / Disease:
Publication: Diabetologia v63.4 p780-787 Year: 2020 ORPHAcode / other:
DOI: 10.1007/s00125-019-05077-4 Keywords: 25-Hydroxyvitamin D,Islet autoimmunity,Type 1 diabetes,Vitamin D

Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis


Author(s): Passone CdGB, Franco RR, Ito SS, Trindade E, Polak M, Damiani D, Bernardo WM
Affiliated Institution / ERN:
Condition / Disease: Prader-Willi syndrome
Publication: BMJ Paediatrics Open v4.1 pe000630 Year: 2020 ORPHAcode / other: ORPHA739
DOI: 10.1136/bmjpo-2019-000630 Keywords: endocrinology,genetics,growth,obesity,syndrome
MTG5

Surgical indications for pituitary tumors during pregnancy: a literature review


Author(s): Graillon T, Cuny T, Castinetti F, Courbière B, Cousin M, Albarel F, Morange I, Bruder N, Brue T, Dufour H
Affiliated Institution / ERN:
Condition / Disease: Pituitary adenoma
Publication: Pituitary v23.2 p189-199 Year: 2020 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s11102-019-01004-3 Keywords: Craniopharyngioma,Meningioma,Pituitary adenoma,Pituitary cyst,Pregnancy,Surgery
MTG6

Diagnosis, treatment and follow-up of patients with acromegaly in a clinical practice setting in Spain: the ACROPRAXIS program Delphi survey


Author(s): de Pablos-Velasco P, Venegas EM, Álvarez Escolá C, Fajardo C, de Miguel P, González N, Bernabéu I, Valdés N, Paja M, Díez JJ, Biagetti B
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Pituitary v23.2 p129-139 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11102-019-01012-3 Keywords: Acromegaly,Clinical practice,Guidelines,Patient management
MTG6

Is less always more in a national well-differentiated thyroid cancer population?


Author(s): Metman M, Lončar I, Kruijff S, Engelsman A, van Ginhoven T
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: European Journal of Surgical Oncology v46.4 p709-711 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1016/j.ejso.2019.10.006 Keywords:
MTG8

Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome


Author(s): Anna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony P Goldstone, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Muriel Coupaye, Sjoerd A A Van Den Berg, Aart Jan Van Der Lely, Laura C G De Graaff
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; Karolinska University Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Prader-Willi Syndrome
Publication: The Journal of Clinical Endocrinology & Metabolism 2020 Jul 1;105(7):e2563-e2571. doi: 10.1210/clinem/dgaa168 Year: 2020 ORPHAcode / other: ORPHA739
DOI: 10.1210/clinem/dgaa168 Keywords: Prader–Willi syndrome; central adrenal insufficiency; hypocortisolism; insulin tolerance test; metyrapone test;
MTG5

Calcitonin testing for detection of medullary thyroid cancer in people with thyroid nodules


Author(s): Verbeek HH, de Groot JWB, Sluiter WJ, Muller Kobold AC, van den Heuvel ER, Plukker JT, Links TP
Affiliated Institution / ERN:
Condition / Disease: Medullary thyroid carcinoma
Publication: Cochrane Database of Systematic Reviews v2020.3 Year: 2020 ORPHAcode / other: ORPHA1332
DOI: 10.1002/14651858.CD010159.pub2 Keywords:
MTG8

Sexual Dimorphism in Cellular and Molecular Features in Human ACTH-Secreting Pituitary Adenomas


Author(s): Pecori Giraldi F, Cassarino MF, Sesta A, Terreni M, Lasio G, Losa M
Affiliated Institution / ERN:
Condition / Disease: Cushing disease
Publication: Cancers v12.3 p669 Year: 2020 ORPHAcode / other: ORPHA96253
DOI: 10.3390/cancers12030669 Keywords: ACTH-secreting adenomas,Cushing’s disease,gender,gene expression profiling,neuroendocrine tumours
MTG6

Oligogenic Origin of Differences of Sex Development in Humans


Author(s): Camats N, Flück CE, Audí L
Affiliated Institution / ERN:
Condition / Disease: DSD
Publication: International Journal of Molecular Sciences v21.5 p1809 Year: 2020 ORPHAcode / other: ORPHA90771
DOI: 10.3390/ijms21051809 Keywords: 46,XX DSD,46,XY DSD,DSD,HTS,differences of sex development,high throughput sequencing techniques,hypospadias,oligogenic disease,oligogenicity
MTG6
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