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Endo-ERN Publications Database
1008 publication(s) found matching the search criteria
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
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
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
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
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
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:
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
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
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
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
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
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
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
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
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
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
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
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:
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
DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review
Author(s):
Spinelli C, Ghionzoli M, Sahli LI, Guglielmo C, Frascella S, Romano S, Ferrari C, Gennari F, Conzo G, Morganti R, De Napoli L, Quaglietta L, De Martino L, Picariello S, Grandone A, Luongo C, Gambale A, Patrizio A, Fallahi P, Antonelli A, Ferrari SM
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
DICER1 Syndrome
Publication:
Cancers v15.14 p3681
Year:
2023
ORPHAcode / other:
ORPHA284343
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
Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment
Author(s):
Lechner L, Opitz R, Silver MJ, Krabusch PM, Prentice AM, Field MS, Stachelscheid H, Leitão E, Schröder C, Fernandez Vallone V, Horsthemke B, Jöckel K, Schmidt B, Nöthen MM, Hoffmann P, Herms S, Kleyn PW, Megges M, Blume-Peytavi U, Weiss K, Mai K, Blankenstein O, Obermayer B, Wiegand S, Kühnen P
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
rare genetic obesity
Publication:
Science Translational Medicine v15.705
Year:
2023
ORPHAcode / other:
ORPHA240371
Mental Health of Transgender Youth: A Comparison of Assigned Female at Birth and Assigned Male at Birth Individuals
Author(s):
Klinger D, Riedl S, Zesch HE, Oehlke S, Völkl-Kernstock S, Plener PL, Karwautz A, Kothgassner OD
Affiliated Institution / ERN:
Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ;
Condition / Disease:
Transgender, female to male
Publication:
Journal of Clinical Medicine v12.14 p4710
Year:
2023
ORPHAcode / other:
ICD-10 F64
DOI:
10.3390/jcm12144710
Keywords:
adolescence,gender dysphoria,gender incongruence,mental health,transgender
Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia
Author(s):
Johannsen TH, Albrethsen J, Neocleous V, Baronio F, Cools M, Aksglaede L, Jørgensen N, Christiansen P, Toumba M, Fanis P, Ljubicic ML, Juul A
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Congenital adrenal hyperplasia
Publication:
Endocrine Connections v12.8
Year:
2023
ORPHAcode / other:
ORPHA418
A Data-Driven Approach to Refine Predictions of Differentiated Thyroid Cancer Outcomes: A Prospective Multicenter Study
Author(s):
Grani G, Gentili M, Siciliano F, Albano D, Zilioli V, Morelli S, Puxeddu E, Zatelli MC, Gagliardi I, Piovesan A, Nervo A, Crocetti U, Massa M, Samà MT, Mele C, Deandrea M, Fugazzola L, Puligheddu B, Antonelli A, Rossetto R, D’Amore A, Ceresini G, Castello R, Solaroli E, Centanni M, Monti S, Magri F, Bruno R, Sparano C, Pezzullo L, Crescenzi A, Mian C, Tumino D, Repaci A, Castagna MG, Triggiani V, Porcelli T, Meringolo D, Locati L, Spiazzi G, Di Dalmazi G, Anagnostopoulos A, Leonardi S, Filetti S, Durante C
Affiliated Institution / ERN:
AOU - Ferrara ; AO City of Health and Science - Turin ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Partial gonadal dysgenesis
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.8 p1921-1928
Year:
2023
ORPHAcode / other:
NO XX CODE
DOI:
10.1210/clinem/dgad075
Keywords:
clinical practice,differentiated thyroid cancer,evidence-based guidelines,risk stratification
Components of the metabolic syndrome in girls with Turner syndrome treated with growth hormone in a long term prospective study
Author(s):
Błaszczyk E, Shulhai A, Gieburowska J, Barański K, Gawlik AM
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.2023.1216464
Keywords:
glucose homeostasis,growth hormone therapy,insulin resistance/hyperinsulinemia,lipids,metabolic syndrome,obesity,turner syndrome
Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes
Author(s):
Robino A, Tornese G, Tinti D, Dovc K, Castorani V, Conti A, Franceschi R, Rabbone I, Bonfanti R, Battelino T, Catamo E
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
diabetes type 1
Publication:
Biomedicines v11.7 p1951
Year:
2023
ORPHAcode / other:
Determinants and mediating mechanisms of quality of life and disease-specific symptoms among thyroid cancer patients: the design of the WaTCh study
Author(s):
Mols F, Schoormans D, Netea-Maier R, Husson O, Beijer S, Van Deun K, Zandee W, Kars M, Wouters van Poppel PCM, Simsek S, van Battum P, Kisters JMH, de Boer JP, Massolt E, van Leeuwaarde R, Oranje W, Roerink S, Vermeulen M, van de Poll-Franse L
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Thyroid cancer
Publication:
Thyroid Research v16.1
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1186/s13044-023-00165-5
Keywords:
Activity trackers,BIA weighing scales,Food diaries,Inflammation,Kynurenine pathway,PROFILES registry,Patient reported outcomes,Thyroid cancer
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report
Author(s):
Biagetti B, Valenzuela I, Campos-Martorell A, Campos B, Hernandez S, Giralt M, Díaz-Troyano N, Iniesta-Serrano E, Yeste D, Simó R
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Short Stature
Publication:
Diagnostics v13.13 p2259
Year:
2023
ORPHAcode / other:
ORPHA90692; ORPHA181393
From paediatric to adult diabetes care: lost in transition
Author(s):
de Beaufort C, Gomber A, Sap S, Laffel L
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ;
Condition / Disease:
diabetes care transition
Publication:
The Lancet Diabetes & Endocrinology v11.7 p446-448
Year:
2023
ORPHAcode / other:
ORPHA101952
