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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

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
DOI: 10.3390/cancers15143681 Keywords: DICER1,children,genetic mutation,neoplasms,surgery
MTG4

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

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
MTG7

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
MTG7

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
DOI: 10.1530/ec-23-0073 Keywords: AMH,FSH,INSL3,LH,Testosterone,inhibin B
MTG1

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
MTG7

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
MTG8

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:
DOI: 10.3390/biomedicines11071951 Keywords: HNFA1 gene,HbA1c,beta cell function,glycaemic control
MTG3

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
DOI: 10.3390/diagnostics13132259 Keywords: ADAMTS,ADAMTS17,GHS-R,genetics,macimorelin,short stature
MTG5

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
MTG3

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
DOI: 10.1016/j.gim.2023.100857 Keywords: Heterozygous,Hypocortisolism,Obesity,POMC,Variant
MTG5

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
DOI: 10.1016/s2213-8587(23)00091-8 Keywords:
MTG3

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
MTG7

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;
DOI: 10.1038/s41572-023-00443-4 Keywords:
MTG5

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
MTG8

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:
DOI: 10.1126/scitranslmed.adg8464 Keywords:
MTG1

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
MTG5

Case Report – Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation


Author(s): Vincenzi G, Petralia IT, Abbate M, Tarantola G, Meroni SLC, Maggiore R, Mari G, Patricelli MG, Schiavo Lena M, Barera G, Vigone MC
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Congenital Hypothyroidism; Bannayan-Riley-Ruvalcaba syndrome
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA442; ORPHA109
DOI: 10.3389/fendo.2023.1205785 Keywords: PTEN hamartoma tumor syndrome,TPO,case report,congenital hypothyroidism,goiter
MTG8

Skin manifestations in rare types of diabetes and other endocrine conditions


Author(s): Reschke F, Biester T, von dem Berge T, Jamiolkowski D, Hasse L, Dassie F, Maffei P, Klee K, Kordonouri O, Ott H, Danne T
Affiliated Institution / ERN: Hannoversche Kinderheilanstalt ;
Condition / Disease:
Publication: Endocrine Connections Volume 12: Issue 7 Year: 2023 ORPHAcode / other:
DOI: 10.1530/ec-22-0410 Keywords:
MTG3

Outcome of immunotherapy in adrenocortical carcinoma: a retrospective cohort study


Author(s): Remde H, Schmidt-Pennington L, Reuter M, Landwehr L, Jensen M, Lahner H, Kimpel O, Altieri B, Laubner K, Schreiner J, Bojunga J, Kircher S, Kunze CA, Pohrt A, Teleanu M, Hübschmann D, Stenzinger A, Glimm H, Fröhling S, Fassnacht M, Mai K, Kroiss M
Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;
Condition / Disease: Adrenocortical carcinoma
Publication: European Journal of Endocrinology v188.6 p485-493 Year: 2023 ORPHAcode / other: ORPHA1501
DOI: 10.1093/ejendo/lvad054 Keywords: PD-L1,adverse drug reaction,immune checkpoint inhibitor,mitotane,treatment
MTG1

The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia


Author(s): Shafaay EA, Aldriweesh MA, Aljahdali GL, Babiker A, Alomar AO, Alharbi KM, Aldalaan H, Alenazi A, Alangari AS, Alsagheir A, Adriaansen BPH, Claahsen – van der Grinten HL, Al Alwan I
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA418
DOI: 10.3389/fendo.2023.1122435 Keywords: CAH,QOL,ambiguous genitalia,psychosocial,virilization
MTG1

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report


Author(s): Neocleous V, Fanis P, Frangos S, Skordis N, Phylactou LA
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;
Condition / Disease: Multiple Endocrine Neoplasia 2, medullary thyroid cancer
Publication: Life v13.6 p1332 Year: 2023 ORPHAcode / other: ORPHA247698; ORPHA247709
DOI: 10.3390/life13061332 Keywords: MEN2,Mediterranean Basin,RET proto-oncogene,medullary thyroid carcinoma
MTG4

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report


Author(s): Neocleous V, Fanis P, Frangos S, Skordis N, Phylactou LA
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;
Condition / Disease: Multiple endocrine neoplasia type 2
Publication: Life v13.6 p1332 Year: 2023 ORPHAcode / other: ORPHA653
DOI: 10.3390/life13061332 Keywords: MEN2,Mediterranean Basin,RET proto-oncogene,medullary thyroid carcinoma
MTG4

Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure


Author(s): Huang L, Yang Z, Kirschke CP, Prouteau C, Copin M, Bonneau D, Pellier I, Coutant R, Miot C, Ziegler A
Affiliated Institution / ERN: CHU d'Angers ;
Condition / Disease: stunted growth, testicular hypoplasia and bone marrow failure
Publication: Human Molecular Genetics v32.12 p2016-2031 Year: 2023 ORPHAcode / other: ORPHA90692
DOI: 10.1093/hmg/ddad033 Keywords:
MTG5

Psychological Care for Children and Adolescents with Diabetes and Patient Outcomes: Results from the International Pediatric Registry SWEET


Author(s): Chobot A, Eckert AJ, Biester T, Corathers S, Covinhas A, de Beaufort C, Imane Z, Kim J, Malatynska A, Moravej H, Pokhrel S, Skinner T, Study Group S
Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;
Condition / Disease: diabetes type 1
Publication: Pediatric Diabetes v2023 p1-9 Year: 2023 ORPHAcode / other:
DOI: 10.1155/2023/8578231 Keywords:
MTG3

Screening of lipids and kidney function in children and adolescents with Type 1 Diabetes: does age matter?


Author(s): Catamo E, Robino A, Dovc K, Tinti D, Tamaro G, Bonfanti R, Franceschi R, Rabbone I, Battelino T, Tornese G
Affiliated Institution / ERN: University Medical Centre Ljubljana ;
Condition / Disease: diabetes type 1
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:
DOI: 10.3389/fendo.2023.1186913 Keywords: age,guidelines,kidney function,lipids profile,type 1 diabetes
MTG3

Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study


Author(s): Becker M, Thomas M, Brachet C, Heinrichs C, Dotremont H, De Schepper J, Lysy P, Beckers D
Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;
Condition / Disease: growth hormone deficiency (GHD)
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957
DOI: 10.3389/fendo.2023.1112938 Keywords: adult height,children,growth,growth hormone,short for gestational age,short stature,syndromic
MTG5 MTG6

Who is sensitising whom? A participatory interview guide development as an awareness tool within a health care research project


Author(s): Kalender U, Wiegmann S, Ernst M, Ihme L, Neumann U, Stöckigt B
Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;
Condition / Disease:
Publication: Heliyon v9.6 pe16778 Year: 2023 ORPHAcode / other:
DOI: 10.1016/j.heliyon.2023.e16778 Keywords:

Clinical course of autoimmune thyroid diseases in women with prolactinomas: Results from a prospective study in a single tertiary centre


Author(s): Elenkova A, Racheva P, Kirilov G, Zacharieva S
Affiliated Institution / ERN: USHATE “ACAD IVAN Penchev” ;
Condition / Disease: Prolactinoma
Publication: Endocrinología, Diabetes y Nutrición (English ed.) v70 p27-34 Year: 2023 ORPHAcode / other: ORPHA2965
DOI: 10.1016/j.endien.2023.05.008 Keywords: Autoimmune thyroiditis,Hipertiroidismo,Hipotiroidismo,Hyperthyroidism,Hypothyroidism,Prolactin,Prolactina,Prolactinoma,Tiroiditis autoinmune
MTG6

Proposal of early CT morphological criteria for response of liver metastases to systemic treatments in gastroenteropancreatic neuroendocrine tumors: Alternatives to RECIST


Author(s): de Mestier L, Resche‐Rigon M, Dromain C, Lamarca A, La Salvia A, de Baker L, Fehrenbach U, Pusceddu S, Colao A, Borbath I, de Haas R, Rinzivillo M, Zerbi A, Funicelli L, de Herder WW, Selberherr A, Wagner AD, Manoharan P, De Cima A, Lybaert W, Jann H, Prinzi N, Faggiano A, Annet L, Walenkamp A, Panzuto F, Pedicini V, Pitoni MG, Siebenhuener A, Mayerhoefer ME, Ruszniewski P, Vullierme M
Affiliated Institution / ERN: AOU Federico II - Naples ;
Condition / Disease: neuroendocrine tumors
Publication: Journal of Neuroendocrinology v35.6 Year: 2023 ORPHAcode / other: ORPHA100092
DOI: 10.1111/jne.13311 Keywords: computed tomography,neuroendocrine tumors,response evaluation,systemic treatments
MTG4
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