Endo-ERN Publications Database
948 publication(s) found matching the search criteria
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
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
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
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;
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:
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
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:
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
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:
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
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
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
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
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
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
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:
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
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
[18F]FDG Uptake and Expression of Immunohistochemical Markers Related to Glycolysis, Hypoxia, and Proliferation in Indeterminate Thyroid Nodules
Author(s):
de Koster EJ, van Engen-van Grunsven ACH, Bussink J, Frielink C, de Geus-Oei L, Kusters B, Peters H, Oyen WJG, Vriens D, Netea-Maier RT, Smit JWA, de Wilt JHW, Booij J, Fliers E, Klooker TK, van Dam EWCM, Dreijerink KMA, Raijmakers PGHM, Kam BLR, Peeters RP, Verzijlbergen JF, van Aken MO, Jager PL, Mijnhout GS, van den Hout WB, Arias AMP, Morreau J, Snel M, Dijkhorst-Oei L, de Klerk JMH, Havekes B, Mitea DC, Vöö S, Brouwer CB, van Dam PS, Sivro F, te Beek ET, Jebbink MCW, Bleumink GS, Schelfhout VJR, Keijsers RGM, Wakelkamp IMMJ, Brouwers AH, Links TP, de Keizer B, van Leeuwaarde RS, Bonenkamp JJ, Donders ART, Fütterer JJ
Affiliated Institution / ERN:
University Medical Center Utrecht ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Molecular Imaging and Biology v25.3 p483-494
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1007/s11307-022-01776-4
Keywords:
Glucose Metabolism,Glycolysis,Immunohistochemistry,Thyroid Nodule,[18F]FDG-PET/CT
Gene expression signature predicts rate of type 1 diabetes progression
Author(s):
Suomi T, Starskaia I, Kalim UU, Rasool O, Jaakkola MK, Grönroos T, Välikangas T, Brorsson C, Mazzoni G, Bruggraber S, Overbergh L, Dunger D, Peakman M, Chmura P, Brunak S, Schulte AM, Mathieu C, Knip M, Lahesmaa R, Elo LL, Mathieu C, Gillard P, Casteels K, Overbergh L, Dunger D, Wallace C, Evans M, Thankamony A, Hendriks E, Bruggraber S, Marcoveccchio L, Peakman M, Tree T, Morgan NG, Richardson S, Todd JA, Wicker L, Mander A, Dayan C, Alhadj Ali M, Pieber T, Eizirik DL, Cnop M, Brunak S, Pociot F, Johannesen J, Rossing P, Quigley CL, Mallone R, Scharfmann R, Boitard C, Knip M, Otonkoski T, Veijola R, Lahesmaa R, Oresic M, Toppari J, Danne T, Ziegler AG, Achenbach P, Rodriguez-Calvo T, Solimena M, Bonifacio EE, Speier S, Holl R, Dotta F, Chiarelli F, Marchetti P, Bosi E, Cianfarani S, Ciampalini P, De Beaufort C, Dahl-Jørgensen K, Skrivarhaug T, Joner G, Krogvold L, Jarosz-Chobot P, Battelino T, Thorens B, Gotthardt M, Roep BO, Nikolic T, Zaldumbide A, Lernmark A, Lundgren M, Costacalde G, Strube T, Schulte AM, Nitsche A, Peakman M, Vela J, Von Herrath M, Wesley J, Napolitano-Rosen A, Thomas M, Schloot N, Goldfine A, Waldron-Lynch F, Kompa J, Vedala A, Hartmann N, Nicolas G, van Rampelbergh J, Bovy N, Dutta S, Soderberg J, Ahmed S, Martin F, Latres E, Agiostratidou G, Koralova A, Willemsen R, Smith A, Anand B, Datta V, Puthi V, Zac-Varghese S, Dias R, Sundaram P, Vaidya B, Patterson C, Owen K, Dayan C, Piel B, Heller S, Randell T, Gazis T, Reismen EB, Carel J, Riveline J, Gautier J, Andreelli F, Travert F, Cosson E, Penfornis A, Petit C, Feve B, Lucidarme N, Cosson E, Beressi J, Ajzenman C, Radu A, Greteau-Hamoumou S, Bibal C, Meissner T, Heidtmann B, Toni S, Rami-Merhar B, Eeckhout B, Peene B, Vantongerloo N, Maes T, Gommers L
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ; Meyer Children’s Hospital Florence ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
diabetes type 1
Publication:
eBioMedicine v92 p104625
Year:
2023
ORPHAcode / other:
DOI:
10.1016/j.ebiom.2023.104625
Keywords:
Autoantibodies,Gene expression signature,Predictive model,RNA-seq,Type 1 diabetes
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
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
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:
Intermittent Use of Continuous Glucose Monitoring: A New Paradigm in Treatment of Type 2 Diabetes
Author(s):
Banshi Saboo, Ranjit Unnikrishnan, Jothydev Kesavadev, Mangesh Tiwaskar, Leszek Czupryniak, Manoj Chawla, Pratik Choudhary, Tadej Battelino, Sanjay Agarwal, Thomas Danne, Viswanathan Mohan
Affiliated Institution / ERN:
University Medical Centre Ljubljana ; Hannoversche Kinderheilanstalt ;
Condition / Disease:
diabetes type 2
Publication:
J Assoc Physicians India 71(6):11-12
Year:
2023
ORPHAcode / other:
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
Author(s):
Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.3389/fendo.2023.1156616
Keywords:
21-hyrdroxylase deficiency,CAH,CYP21A2,RCCX,gene duplications
Plasma-free metanephrines, nerve growth factor, and renalase significance in patients with PCOS
Author(s):
Robeva R, Elenkova A, Kirilov G, Zacharieva S
Affiliated Institution / ERN:
USHATE “ACAD IVAN Penchev” ;
Condition / Disease:
PCOS
Publication:
Endocrine v81.3 p602-612
Year:
2023
ORPHAcode / other:
DOI:
10.1007/s12020-023-03404-9
Keywords:
Nerve growth factor (NGF),Normetanephrine,Polycystic ovarian syndrome (PCOS),Renalase,Sympathetic noradrenergic activity
Current Treatments for Patients with Genetic Obesity
Author(s):
Faccioli N, Poitou C, Clément K, Dubern B
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Genetic non-syndromic obesity, leptin/melanocortin pathway
Publication:
Journal of Clinical Research in Pediatric Endocrinology v15.2 p108-119
Year:
2023
ORPHAcode / other:
ORPHA77828
DOI:
10.4274/jcrpe.galenos.2023.2023-3-2
Keywords:
Genetic obesity,syndromic obesity,personalized medicine,setmelanotide
Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency
Author(s):
Sayol-Torres L, Valenzuela MI, Tomasini R, Fernández-Alvarez P, Clemente M, Yeste D
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Non-acquired pituitary hormone deficiency
Publication:
Journal of Clinical Research in Pediatric Endocrinology v15.2 p205-209
Year:
2023
ORPHAcode / other:
ORPHA95488
DOI:
10.4274/jcrpe.galenos.2021.2021.0128
Keywords:
Prolyl endopeptidase-like,genetics,growth hormone deficiency
What is the role of CHCHD2 in adrenal tumourigenesis?
Author(s):
Karapanagioti A, Nasiri-Ansari N, Moustogiannis A, Trigas GC, Zografos G, Aggeli C, Kyriakopoulos G, Choreftaki T, Philippou A, Kaltsas G, Kassi E, Angelousi A
Affiliated Institution / ERN:
General Hospital of Athens “LAIKO” ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
Endocrine v81.2 p357-367
Year:
2023
ORPHAcode / other:
ORPHA1501
DOI:
10.1007/s12020-023-03393-9
Keywords:
Adrenal adenomas,Adrenocortical carcinoma,Apoptosis,BAX,BCL2,CHCHD2
Quality of life in children and adolescents with growth hormone deficiency and their caregivers: an Italian survey
Author(s):
Maghnie M, Orso M, Polistena B, Cappa M, Pozzobon G, d’Angela D, Patti G, Spandonaro F, Granato S, Di Virgilio R, La Torre D, Salerno M
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
growth hormone deficiency
Publication:
Journal of Endocrinological Investigation v46.12 p2513-2523
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957;
DOI:
10.1007/s40618-023-02106-3
Keywords:
Children,Growth hormone deficiency,Italy,Quality of life,Survey