Endo-ERN Publications Database
940 publication(s) found matching the search criteria
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
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
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
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
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
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
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
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:
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
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
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
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
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
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
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
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
Author(s):
Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel A, Thauvin-Robinet C, Saveanu A, Cherifi BG, Le Beyec-Le Bihan J, Froguel P, Bonnefond A
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
obesity associated with defect in leptin/melanocortin pathway
Publication:
Genetics in Medicine v25.7 p100857
Year:
2023
ORPHAcode / other:
ORPHA77828
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
Time Spent in Hypoglycemia According to Age and Time of Day: Observations During Closed-Loop Insulin Delivery
Author(s):
Alwan H, Ware J, Boughton CK, Wilinska ME, Allen JM, Lakshman R, Nwokolo M, Hartnell S, Bally L, de Beaufort C, Besser RE, Campbell FM, Davis N, Denvir L, Evans ML, Fröhlich-Reiterer E, Ghatak A, Hofer SE, Kapellen TM, Leelarathna L, Mader JK, Narendran P, Rami-Mehrar B, Tauschmann M, Thabit H, Thankamony A, Hovorka R
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ;
Condition / Disease:
diabetes type 1
Publication:
Diabetes Technology & Therapeutics v25.7 p485-491
Year:
2023
ORPHAcode / other:
DOI:
10.1089/dia.2023.0061
Keywords:
Artificial pancreas,Closed-loop insulin delivery,Insulin pump therapy,Randomized trial,Type 1 diabetes
Imprinting disorders
Author(s):
Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, Tümer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M
Affiliated Institution / ERN:
CHU de Toulouse ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Nature Reviews Disease Primers v9.1
Year:
2023
ORPHAcode / other:
ORPHA739; ORPHA240371; ORPHA398079;
AMH and other markers of ovarian function in patients with Turner syndrome – a single center experience of transition from pediatric to gynecological follow up
Author(s):
Hagen CP, Fischer MB, Mola G, Mikkelsen TB, Cleemann LH, Gravholt CH, Viuff MH, Juul A, Pedersen AT, Main KM
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
Turner syndrome
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA881
DOI:
10.3389/fendo.2023.1173600
Keywords:
FSH (Follicle Stimulating Hormone),anti mullerian hormone (AMH),fertility preservation,inhibin B,ovarian function,turner syndrome
2023 European Thyroid Association Clinical Practice Guidelines for thyroid nodule management
Author(s):
Durante C, Hegedüs L, Czarniecka A, Paschke R, Russ G, Schmitt F, Soares P, Solymosi T, Papini E
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
thyroid nodule management
Publication:
European Thyroid Journal v12.5
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1530/etj-23-0067
Keywords:
fine-needle aspiration,follow-up,management,minimally invasive treatment,molecular biology,surgery,thyroid nodule,treatment,ultrasound
High-resolution daily profiles of tissue adrenal steroids by portable automated collection
Author(s):
Upton TJ, Zavala E, Methlie P, Kämpe O, Tsagarakis S, Øksnes M, Bensing S, Vassiliadi DA, Grytaas MA, Botusan IR, Ueland G, Berinder K, Simunkova K, Balomenaki M, Margaritopoulos D, Henne N, Crossley R, Russell G, Husebye ES, Lightman SL
Affiliated Institution / ERN:
Condition / Disease:
tissue adrenal steroids
Publication:
Science Translational Medicine v15.701
Year:
2023
ORPHAcode / other:
High-resolution daily profiles of tissue adrenal steroids by portable automated collection
Author(s):
Upton TJ, Zavala E, Methlie P, Kämpe O, Tsagarakis S, Øksnes M, Bensing S, Vassiliadi DA, Grytaas MA, Botusan IR, Ueland G, Berinder K, Simunkova K, Balomenaki M, Margaritopoulos D, Henne N, Crossley R, Russell G, Husebye ES, Lightman SL
Affiliated Institution / ERN:
Evangelismos General Hospital ; Bergen Hospital Trust ; Karolinska University Hospital ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
Science Translational Medicine v15.701
Year:
2023
ORPHAcode / other:
ORPHA647758
A Liquid Biopsy-Based Approach to Isolate and Characterize Adipose Tissue-Derived Extracellular Vesicles from Blood
Author(s):
Mishra S, Kumar A, Kim S, Su Y, Singh S, Sharma M, Almousa S, Rather HA, Jain H, Lee J, Furdui CM, Ahmad S, Ferrario CM, Punzi HA, Chuang C, Wabitsch M, Kritchevsky SB, Register TC, Deep G
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Obesity
Publication:
ACS Nano v17.11 p10252-10268
Year:
2023
ORPHAcode / other:
DOI:
10.1021/acsnano.3c00422
Keywords:
adipose tissue,amino acid metabolism,extracellular vesicles,inflammation,liquid biopsies,microRNA,obesity