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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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890 publication(s) found matching the search criteria

Increased cardiovascular morbidity and mortality in patients with resistance to thyroid hormone


Author(s): Refetoff S, Persani L, Visser WE
Affiliated Institution / ERN: AO City of Health and Science - Turin ;
Condition / Disease: Resistance to thyroid hormone beta
Publication: The Lancet Diabetes & Endocrinology v11.9 p628-629 Year: 2023 ORPHAcode / other: ORPHA566243
DOI: 10.1016/s2213-8587(23)00192-4 Keywords:
MTG8

Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours


Author(s): Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C, Descotes F, Villa C, Baussart B, Burman P, Maiter D, von Selzam V, Rotermund R, Flitsch J, Thorsteinsdottir J, Jouanneau E, Buchfelder M, Chanson P, Raverot G, Theodoropoulou M
Affiliated Institution / ERN: University Hospitals Saint-Luc ;
Condition / Disease: Pituitary tumours - prolactinomas
Publication: European Journal of Endocrinology v189.3 p372-378 Year: 2023 ORPHAcode / other: ORPHA2965
DOI: 10.1093/ejendo/lvad114 Keywords: SF3B1,aggressive,carcinoma,lactotroph tumour,prolactinoma
MTG6

European experience with the Afirma Gene Expression Classifier for indeterminate thyroid nodules: A clinical utility study in the Netherlands


Author(s): Lončar I, van Velsen EFS, Massolt ET, van Kemenade FJ, van Engen‐van Grunsven ACH, van Hemel BM, van Nederveen FH, Netea‐Maier R, Links TP, Peeters RP, van Ginhoven TM
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; University Medical Center Groningen ;
Condition / Disease: Follicular thyroid carcinoma
Publication: Head & Neck v45.9 p2227-2236 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1002/hed.27472 Keywords: fine-needle aspiration,gene expression classifier,genomic sequencing classifier,indeterminate thyroid nodule
MTG8

Efficacy and safety of temozolomide in the treatment of aggressive pituitary neuroendocrine tumours in Spain


Author(s): Lamas C, Cámara R, Fajardo C, Remon-Ruiz P, Biagetti B, Guerrero-Pérez F, Araujo-Castro M, Mora M, Hanzu F, Iglesias P, García-Centeno R, Soto A
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Pituitary neuroendocrine tumours
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA99408
DOI: 10.3389/fendo.2023.1204206 Keywords: aggressive pituitary tumor,pituitary carcinoma,pituitary neuroendocrine tumor,radiotherapy,temozolomide
MTG6

The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene


Author(s): Vroonen L, Beckers A, Camby S, Cuny T, Beckers P, Jaffrain-Rea M, Cogne M, Naves L, Ferriere A, Romanet P, Elenkova A, Karhu A, Brue T, Barlier A, Pétrossians P, Daly AF
Affiliated Institution / ERN: USHATE “ACAD IVAN Penchev” ;
Condition / Disease: Prolactinoma
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA2965
DOI: 10.3389/fendo.2023.1242588 Keywords: AIP,MEN1,cabergoline,dopamine agonist,genetic,prolactinoma,resistance
MTG6

Molecular Theranostics in Radioiodine-Refractory Differentiated Thyroid Cancer


Author(s): Petranović Ovčariček P, Campenni A, de Keizer B, Deandreis D, Kreissl MC, Vrachimis A, Tuncel M, Giovanella L
Affiliated Institution / ERN: University Medical Center Utrecht ;
Condition / Disease: Thyroid cancer
Publication: Cancers v15.17 p4290 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.3390/cancers15174290 Keywords: FAPI,FDG,PRRT,PSMA,molecular imaging,radioiodine-refractory DTC,radioligand therapy,somatostatin analogues,theranostics
MTG8

Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome


Author(s): Ruggeri RM, Benevento E, De Cicco F, Grossrubatscher EM, Hasballa I, Tarsitano MG, Centello R, Isidori AM, Colao A, Pellegata NS, Faggiano A
Affiliated Institution / ERN: AOU Federico II - Naples ;
Condition / Disease: Multiple endocrine neoplasia type 4
Publication: Endocrine v82.3 p480-490 Year: 2023 ORPHAcode / other: ORPHA276152
DOI: 10.1007/s12020-023-03497-2 Keywords: CDKN1B,Hyperparathyroidism,MEN4,Neuroendocrine neoplasms,Neuroendocrine tumor,Pituitary adenoma
MTG4

Long-term efficacy and safety of osilodrostat in patients with Cushing’s disease: results from the LINC 4 study extension


Author(s): Gadelha M, Snyder PJ, Witek P, Bex M, Belaya Z, Turcu AF, Feelders RA, Heaney AP, Paul M, Pedroncelli AM, Auchus RJ
Affiliated Institution / ERN: UZ Leuven ;
Condition / Disease: Cushing's disease
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA96253
DOI: 10.3389/fendo.2023.1236465 Keywords: 11β-hydroxylase,Cushing’s disease,hypercortisolism,long-term treatment,osilodrostat
MTG6

The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD—a non-inferiority Randomised Controlled Trial (RCT)


Author(s): Brettell E, Högler W, Woolley R, Cummins C, Mathers J, Oppong R, Roy L, Khan A, Hunt C, Dattani M, Ong K, Donaldson M, Harris V, Maghnie M, Gregory J, Auguste P, Binder G, Gambol C, Dhamaraj P, Gevers E, Saraff V, Clayton P, Randell T, Mushtaq T, Cheetham T, Davies J, Abid N, Khairi RE, Kapelari K, Gottardi-Butturini E, Reiterer-Fröhlich E, Bonfig W
Affiliated Institution / ERN: Klinikum Wels Grieskirchen ;
Condition / Disease: growth hormone deficiency
Publication: Trials v24.1 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA95488
DOI: 10.1186/s13063-023-07562-z Keywords: Adverse effects,Cost effectiveness,Discontinuation of growth hormone,Early puberty,Early retesting,Endocrine,Final height,Growth hormone,Isolated growth hormone deficiency,Reversal
MTG6

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management


Author(s): Sarafoglou K, Merke DP, Reisch N, Claahsen-van der Grinten H, Falhammar H, Auchus RJ
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: The Journal of Clinical Endocrinology & Metabolism v108.9 p2154-2175 Year: 2023 ORPHAcode / other: ORPHA418
DOI: 10.1210/clinem/dgad134 Keywords: 11-oxygenated androgens,17-hydroxyprogesterone,congenital adrenal hyperplasia
MTG1

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing


Author(s): Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas M, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert A, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R
Affiliated Institution / ERN: CHU d'Angers ;
Condition / Disease: Congenital Hypothyroidism
Publication: The Journal of Clinical Endocrinology & Metabolism v108.9 pe779-e788 Year: 2023 ORPHAcode / other: ORPHA442
DOI: 10.1210/clinem/dgad119 Keywords: congenital hypothyroidism,gland-in-situ,molecular yield,next-generation sequencing,severity
MTG8

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature


Author(s): Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C
Affiliated Institution / ERN: Ulm University Medical Center ;
Condition / Disease: diabetes mellitus; Shwachman-Diamond syndrome
Publication: Italian Journal of Pediatrics v49.1 Year: 2023 ORPHAcode / other: ORPHA811
DOI: 10.1186/s13052-023-01501-z Keywords: Case report,Diabetes mellitus,Pancreatic exocrine insufficiency,Shwachman-Diamond syndrome
MTG3

Quality of life in men with Klinefelter syndrome: a multicentre study


Author(s): Franik S, Fleischer K, Kortmann B, Stikkelbroeck NM, D’Hauwers K, Bouvattier C, Slowikowska-Hilczer J, Grunenwald S, van de Grift T, Cartault A, Richter-Unruh A, Reisch N, Thyen U, IntHout J, Claahsen-van der Grinten HL, _ _
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;
Condition / Disease: Klinefelter
Publication: Endocrine Connections v12.10 Year: 2023 ORPHAcode / other: ORPHA484
DOI: 10.1530/ec-23-0111 Keywords: Klinefelter syndrome,disorders/differences of sex development,multicentre study,quality of life
MTG7

An overview of the outreach of the 2019–2021 Endo-ERN knowledge generation webinars


Author(s): Iotova V, Schalin-Jäntti C, Van Beuzekom C, Bruegmann P, Broesamle M, Hiort O, Pereira AM
Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ;
Condition / Disease:
Publication: Endocrine Connections v12.9 Year: 2023 ORPHAcode / other:
DOI: 10.1530/ec-22-0512 Keywords: Endo-ERN,evaluation tools,knowledge generation,main thematic group,webinars
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

Association of gestational thyroid function and thyroid peroxidase antibody positivity with postpartum depression: a prospective cohort study and systematic literature review with meta-analysis


Author(s): Sileo F, Osinga JAJ, Visser WE, Jansen TA, Bramer WM, Derakhshan A, Citterio V, Tiemeier H, Persani L, Korevaar TIM
Affiliated Institution / ERN: AOU-Bologna ;
Condition / Disease: Post-partum depression
Publication: European Journal of Endocrinology v189.2 pS27-S37 Year: 2023 ORPHAcode / other:
DOI: 10.1093/ejendo/lvad092 Keywords: iodide peroxidase,postpartum depression,thyrotropin,thyroxine
MTG8

Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: a prognostic study


Author(s): Lippert J, Dischinger U, Appenzeller S, Prete A, Kircher S, Skordilis K, Elhassan YS, Altieri B, Fassnacht M, Ronchi CL
Affiliated Institution / ERN: University Hospital Würzburg ;
Condition / Disease: Adrenocortical carcinoma
Publication: European Journal of Endocrinology v189.2 p262-270 Year: 2023 ORPHAcode / other: ORPHA1501
DOI: 10.1093/ejendo/lvad112 Keywords: adrenal cancer,molecular oncology,personalised medicine,prognosis
MTG1

Positive effect of leptin substitution on mood and behaviour in patients with congenital leptin deficiency


Author(s): von Schnurbein J, Remy M, Brandt S, Manzoor J, Kohlsdorf K, Mahmood S, Hebebrand J, Wabitsch M
Affiliated Institution / ERN: Ulm University Medical Center ;
Condition / Disease: congenital leptin deficiency
Publication: Pediatric Obesity v18.8 Year: 2023 ORPHAcode / other: ORPHA66628
DOI: 10.1111/ijpo.13057 Keywords:
MTG5

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets


Author(s): Novizio R, Terracciano A, De Bernardi ML, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C
Affiliated Institution / ERN: Antonio Cardarelli Hospital - Naples ;
Condition / Disease: Hypophosphatemic Rickets
Publication: Endocrine, Metabolic & Immune Disorders - Drug Targets v23.9 p1235-1239 Year: 2023 ORPHAcode / other: ORPHA89937; ORPHA289176
DOI: 10.2174/1871530323666230227142202 Keywords: FGF23,X-linked hypophosphatemia,dominant X-linked inheritance,endopeptidase,phosphate regulating gene,vitamin D resistant rickets
MTG2

Claudin‐19 localizes to the thick ascending limb where its expression is required for junctional claudin‐16 localization


Author(s): Dimke H, Griveau C, Ling WE, Brideau G, Cheval L, Muthan P, Müller D, Al‐Shebel A, Houillier P, Prot‐Bertoye C
Affiliated Institution / ERN: Reference centre for rare diseases of calcium and phosphate-HEGP ;
Condition / Disease: Familial hypomagnesemia with hypercalciuria/Divalent cation transport
Publication: Annals of the New York Academy of Sciences v1526.1 p126-137 Year: 2023 ORPHAcode / other: ORPHA306516
DOI: 10.1111/nyas.15014 Keywords: epithelium,immunolocalization,kidney,thick ascending limb,tight junction
MTG2

Elevated IGF‐1 concentrations in children with low grade glioma: A descriptive analysis in a retrospective national cohort


Author(s): van Schaik J, van Roessel IMAA, Bos ID, Claashen‐van der Grinten HL, Clement SC, van Iersel L, Bakker B, Meijer L, Kremer L, Schouten‐van Meeteren AYN, van Santen HM
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;
Condition / Disease: hypothalamic dysfunction; insulin-like growth factor 1; low grade glioma;
Publication: Journal of Neuroendocrinology v35.8 Year: 2023 ORPHAcode / other: ORPHA181384; ORPHA99725;
DOI: 10.1111/jne.13317 Keywords: hypothalamic dysfunction,insulin-like growth factor 1,low grade glioma
MTG6

Significance of Furin Expression in Thyroid Neoplastic Transformation


Author(s): Azevedo MT, Macedo S, Canberk S, Cardoso L, Gaspar TB, Pestana A, Batista R, Sobrinho-Simões M, Soares P
Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;
Condition / Disease: Thyroid cancer
Publication: Cancers v15.15 p3909 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.3390/cancers15153909 Keywords: ACE2,Furin,TMPRSS2,thyroid,thyroid neoplasms
MTG8

Thyrotropin-secreting tumor “TSH-PitNET”: From diagnosis to treatment


Author(s): Briet C, Suteau V, Illouz F, Rodien P
Affiliated Institution / ERN: CHU d'Angers ;
Condition / Disease: TSH-secreting pituitary adenoma
Publication: Annales d'Endocrinologie v84.4 p407-412 Year: 2023 ORPHAcode / other: ORPHA91347
DOI: 10.1016/j.ando.2023.01.004 Keywords: Diagnosis,Pituitary adenoma,TSH secreting tumor,TSH-PitNET,Treatment
MTG6

Usefulness of a clinicopathological classification in predicting treatment-related outcomes and multimodal therapeutic approaches in pituitary adenoma patients: retrospective analysis on a Portuguese cohort of 129 patients from a tertiary pituitary center


Author(s): Peixe C, Alexandre MI, Gomes AR, Nobre E, Silva AL, Oliveira T, López-Presa D, Faria CC, Miguens J, Bugalho MJ, Marques P
Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease: Acromegaly
Publication: Pituitary v26.4 p352-363 Year: 2023 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11102-023-01319-2 Keywords: Classification,Invasion,Pituitary adenoma,Pituitary tumor,Proliferation,Tumor grade
MTG6

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype


Author(s): Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A
Affiliated Institution / ERN: AOU-Bologna ;
Condition / Disease: Noonan syndrome
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA648
DOI: 10.3389/fendo.2023.1209339 Keywords: BMI,Mazzanti syndrome,Noonan Syndrome,PTPN11,RASopathies,SHOC2,cholesterol,tryglicerides
MTG5

Preference of acromegaly patients for treatment attributes in Spain


Author(s): Fajardo C, Álvarez-Escola C, Biagetti B, Garcia-Centeno R, Ciriza R, Sánchez-Cenizo L, Díaz-Muñoz M
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Acromegaly
Publication: Endocrine v82.2 p379-389 Year: 2023 ORPHAcode / other: ORPHA963
DOI: 10.1007/s12020-023-03462-z Keywords: Acromegaly,Growth hormone,Preferences,Quality of life,Treatment
MTG6

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved


Author(s): Lam J, Stoppa-Vaucher S, Antoniou MC, Bouthors T, Ruiz I, Sekarski N, Rutz T, Fries S, Binz PA, Bütschi FN, Vulliemoz N, Gawlik A, Pitteloud N, Hauschild M, Busiah K
Affiliated Institution / ERN: Medical University of Silesia in Katowice ;
Condition / Disease: Turner syndrome
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA881
DOI: 10.3389/fendo.2023.1190670 Keywords: Turner syndrome,care coordination,comorbidities,follow-up,international guidelines,recommendations,transition
MTG7

Allergic Diseases and Childhood Obesity: A Detrimental Link?


Author(s): Stefani C, Pecoraro L, Flodmark C, Zaffanello M, Piacentini G, Pietrobelli A
Affiliated Institution / ERN: AOUI Verona ;
Condition / Disease: obesity, allergy
Publication: Biomedicines v11.7 p2061 Year: 2023 ORPHAcode / other:
DOI: 10.3390/biomedicines11072061 Keywords: allergic conjunctivitis,allergic rhinitis,atopic dermatitis,childhood asthma,chronic urticaria,food allergy,obesity
MTG5

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations


Author(s): Ertl D, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Hôpital Bicêtre ;
Condition / Disease: Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism iPPSD
Publication: European Journal of Endocrinology v189.1 p123-131 Year: 2023 ORPHAcode / other: ORPHA97593
DOI: 10.1093/ejendo/lvad085 Keywords: iPPSD,pediatric,pseudohypoparathyroidism,recombinant human growth hormone,short stature
MTG2

European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors


Author(s): Fassnacht M, Tsagarakis S, Terzolo M, Tabarin A, Sahdev A, Newell-Price J, Pelsma I, Marina L, Lorenz K, Bancos I, Arlt W, Dekkers OM
Affiliated Institution / ERN: Evangelismos General Hospital ;
Condition / Disease: guidelines on the management of adrenal incidentalomas
Publication: European Journal of Endocrinology v189.1 pG1-G42 Year: 2023 ORPHAcode / other:
DOI: 10.1093/ejendo/lvad066 Keywords: adrenal tumors,diagnostic workup,follow-up,therapy
MTG1

Lipid Nanoparticles as a Shuttle for Anti-Adipogenic miRNAs to Human Adipocytes


Author(s): Schachner-Nedherer A, Fuchs J, Vidakovic I, Höller O, Schratter G, Almer G, Fröhlich E, Zimmer A, Wabitsch M, Kornmueller K, Prassl R
Affiliated Institution / ERN: Ulm University Medical Center ;
Condition / Disease: Lipid Nanoparticles as a Shuttle for Anti-Adipogenic miRNAs to Human Adipocytes
Publication: Pharmaceutics v15.7 p1983 Year: 2023 ORPHAcode / other:
DOI: 10.3390/pharmaceutics15071983 Keywords: adipogenesis,automated quantitative image analysis,lipid nanoparticles,microRNA
MTG5
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