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Endo-ERN Publications Database
1008 publication(s) found matching the search criteria
Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study
Author(s):
Terzolo M, Fassnacht M, Perotti P, Libé R, Kastelan D, Lacroix A, Arlt W, Haak HR, Loli P, Decoudier B, Lasolle H, Quinkler M, Haissaguerre M, Chabre O, Caron P, Stigliano A, Giordano R, Zatelli MC, Bancos I, Fragoso MCBV, Canu L, Luconi M, Puglisi S, Basile V, Reimondo G, Kroiss M, Megerle F, Hahner S, Kimpel O, Dusek T, Nölting S, Bourdeau I, Chortis V, Ettaieb MH, Cosentini D, Grisanti S, Baudin E, Berchialla P, Bovis F, Sormani MP, Bruzzi P, Beuschlein F, Bertherat J, Berruti A
Affiliated Institution / ERN:
AOU - Ferrara ; University Hospital Würzburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Maastricht University Medical Center+ ; Hospices Civils de Lyon ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
The Lancet Diabetes & Endocrinology v11.10 p720-730
Year:
2023
ORPHAcode / other:
ORPHA1501
The effect of testosterone treatment on bone mineral density in Klinefelter syndrome: A retrospective cohort study
Author(s):
Willems S, David K, Decallonne B, Marcq P, Antonio L, Vanderschueren D
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter syndrome
Publication:
Andrology v11.7 p1295-1302
Year:
2023
ORPHAcode / other:
ORPHA484
DOI:
10.1111/andr.13411
Keywords:
Klinefelter syndrome,bone mineral density,dual-energy X-ray absorptiometry,hypogonadism,testosterone replacement therapy
Magnetic resonance imaging as a predictor of therapeutic response to pasireotide in acromegaly
Author(s):
Ruiz S, Gil J, Biagetti B, Venegas E, Cámara R, Garcia‐Centeno R, Gálvez M, Picó A, Maraver S, González I, Abellán P, Trincado P, Herrera M, Olvera P, Xifra G, Bernabeu I, Serra‐Soler G, Azriel S, García L, Carvalho D, Jordà M, Valassi E, Puig J, Puig‐Domingo M
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ; São João University Hospital(CHUSJ) ;
Condition / Disease:
Acromegaly
Publication:
Clinical Endocrinology v99.4 p378-385
Year:
2023
ORPHAcode / other:
ORPHA963; ORPHA314769
DOI:
10.1111/cen.14946
Keywords:
IGF-1,T2-weighted signal intensity,acromegaly,magnetic resonance imaging,pasireotide,somatostatin receptor ligands
Predictors of surgical complications in boys with hypospadias: data from an international registry
Author(s):
Scougall K, Bryce J, Baronio F, Boal RL, Castera JR, Castro S, Cheetham T, Costa EC, Darendeliler F, Davies JH, Dirlewanger M, Gazdagh G, Globa E, Guerra-Junior G, Guran T, Herrmann G, Holterhus P, Akgül AK, Markosyan R, McElreavey K, Miranda ML, Nordenstrom A, O’Toole S, Poyrazoglu S, Russo G, Schwitzgebel V, Stancampiano M, Steigert M, Ahmed SF, Lucas-Herald AK
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Hypospadias
Publication:
World Journal of Pediatric Surgery v6.4 pe000599
Year:
2023
ORPHAcode / other:
ORPHA95706
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Author(s):
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, Wasilewska A, Longo G, Espinosa L, Miglinas M, Stroescu R, Huseynova S, Stabouli S, Sathyanarayana V, Andronesi AG, Hahn D, Sharma D, Petrosyan E, Frangou E, Mohebbi N, Dinçel NT, Braconnier P, Gilbert RD, Sambo A, Tasic V, Henne T, Bockenhauer D
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Nephrology Dialysis Transplantation v38.10 p2120-2130
Year:
2023
ORPHAcode / other:
DOI:
10.1093/ndt/gfaa243
Keywords:
AQP2,AVPR2,chronic kidney disease,flow uropathy,nephrogenic diabetes insipidus
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Author(s):
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
XLH
Publication:
Orphanet Journal of Rare Diseases v18.1
Year:
2023
ORPHAcode / other:
ORPHA89936
DOI:
10.1186/s13023-023-02882-4
Keywords:
Fibroblast growth factor 23 (FGF23),Hypophosphatemic rickets,International,Natural history,Osteomalacia,PHEX mutation,Patient registry,Rare disease,X-linked hypophosphatemia (XLH)
SARS-CoV-2 Infection and Development of Islet Autoimmunity in Early Childhood
Author(s):
Lugar M, Eugster A, Achenbach P, von dem Berge T, Berner R, Besser REJ, Casteels K, Elding Larsson H, Gemulla G, Kordonouri O, Lindner A, Lundgren M, Müller D, Oltarzewski M, Rochtus A, Scholz M, Szypowska A, Todd JA, Ziegler A, Bonifacio E, Gündert M, Haupt F, Arnolds S, Blasius K, Friedl N, Gezginci C, Göppel G, Heigermoser M, Hergl M, Höfelschweiger B, Jolink M, Kisfügedi K, Klein N, Matzke C, Niewöhner R, Schütte-Borkovec K, Weiß A, Zapardiel Gonzalo JM, Schmidt S, Vurucu M, Sarcletti K, Sporreiter M, Jacobson S, Janssen C, Morobé H, Vrancken B, Van den Driessche N, Van Poel G, Van Heyste R, Houben J, Vanhuyse V, Arabi S, Barbknecht L, Dietz S, Ehrlich F, Gholizadeh Z, Hoffmann R, Hommel A, Lange F, Loff A, Morgenstern R, Schille A, Sigg M, Weigelt M, Weise A, Zubizarreta N, Danne T, Galuschka L, Kruse C, Landsberg S, Lange K, Marquardt E, Reschke F, Roloff F, Weiskorn J, Polier M, Schmidt B, Bunk M, Hofelich A, Huber E, Kaiser M, Käßl A, Marcus B, Munzinger A, Ramminger C, Reinmüller F, Vollmuth V, Winkler C, Dybkowska S, Groele L, Owczarek D, Popko K, Cieloch A, Dzygalo K, Górska E, Mroczek A, Zduńczyk B, Zych A, Czerwińska W, Dziedzic N, Samuelsson H, Alström Mortin S, Bennet R, Brundin C, Dahlberg S, Fransson L, Jönsson I, Nenonen H, Ramelius A, Törn C, Ulvenhag U, Lindström M, Rhamati K, Goldman Tsubarah M, Salami F, Hawkins S, Mujadidi YF, Smith I, Roseman F, Robinson H, Taj N, Whelan C, Wishlade T, Vernon S, Ratcliffe H
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ;
Condition / Disease:
Diabetes mellitus type 1
Publication:
JAMA v330.12 p1151
Year:
2023
ORPHAcode / other:
ORPHA181371
First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria
Author(s):
Elkina SM, Halvadzhiyan IB, Popova GT, Avdjieva-Tzavella DM, Stefanova E, Kaleva NN, Stoeva IH, Petrova CK, Iotova VM
Affiliated Institution / ERN:
USHATE “ACAD IVAN Penchev” ;
Condition / Disease:
Growth disorders
Publication:
Journal of Pediatric Endocrinology and Metabolism v36.9 p832-841
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957
Secondary diabetes mellitus in pheochromocytomas and paragangliomas
Author(s):
Moustaki M, Paschou SA, Vakali E, Xekouki P, Ntali G, Kassi E, Peppa M, Psaltopoulou T, Tzanela M, Vryonidou A
Affiliated Institution / ERN:
General Hospital of Athens “LAIKO” ;
Condition / Disease:
Sporadic phaeochromocytoma/secreting paraganglioma
Publication:
Endocrine v82.3 p467-479
Year:
2023
ORPHAcode / other:
ORPHA276621
DOI:
10.1007/s12020-023-03492-7
Keywords:
Adrenergic phenotype,Aerobic glycolysis,Impaired insulin secretion,Noradrenergic phenotype,PPGLs,Secondary diabetes mellitus
Secondary diabetes mellitus in pheochromocytomas and paragangliomas
Author(s):
Moustaki M, Paschou SA, Vakali E, Xekouki P, Ntali G, Kassi E, Peppa M, Psaltopoulou T, Tzanela M, Vryonidou A
Affiliated Institution / ERN:
Evangelismos General Hospital ; General Hospital of Athens “LAIKO” ;
Condition / Disease:
Sporadic phaeochromocytoma/secreting paraganglioma
Publication:
Endocrine v82.3 p467-479
Year:
2023
ORPHAcode / other:
ORPHA276621
DOI:
10.1007/s12020-023-03492-7
Keywords:
Adrenergic phenotype,Aerobic glycolysis,Impaired insulin secretion,Noradrenergic phenotype,PPGLs,Secondary diabetes mellitus
Weekly Somapacitan in GH Deficiency: 4-Year Efficacy, Safety, and Treatment/Disease Burden Results From REAL 3
Author(s):
Sävendahl L, Battelino T, Højby Rasmussen M, Brod M, Röhrich S, Saenger P, Horikawa R
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
growth hormone deficiency (GHD)
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.10 p2569-2578
Year:
2023
ORPHAcode / other:
ORPHA101957; ORPHA95488
DOI:
10.1210/clinem/dgad183
Keywords:
childhood growth hormone deficiency,daily growth hormone,growth hormone treatment,long-acting growth hormone,somapacitan
Psychopathology in Acromegaly—Real and Perceived
Author(s):
Pivonello R, Neggers SJCMM, Imran SA
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
acromegaly
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.10 p2470-2474
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1210/clinem/dgad237
Keywords:
acromegaly,anxiety,body image,depression,psychopathology,sexual function
Adrenal function in relation to cytokines and outcome in non-critically ill patients with COVID-19
Author(s):
Athanasiou N, Diamantopoulos A, Keskinidou C, Katsaounou P, Angelousi A, Jahaj E, Mourelatos P, Vrettou CS, Botoula E, Vassiliou AG, Kotanidou A, Tsagarakis S, Dimopoulou I, Vassiliadi DA
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
adrenal function in COVID-19
Publication:
Journal of Endocrinological Investigation v47.3 p721-728
Year:
2023
ORPHAcode / other:
Acquired hypothalamic dysfunction in childhood: ‘what do patients need?’ – an Endo-ERN survey
Author(s):
van Roessel IMAA, de Graaf JP, Biermasz NR, Charmandari E, van Santen HM
Affiliated Institution / ERN:
Leiden University Medical Center ; University Medical Center Utrecht ;
Condition / Disease:
Acquired hypothalamic dysfunction; craniopharyngeoma; hypothalamic obesity;
Publication:
Endocrine Connections Volume 12: Issue 10
Year:
2023
ORPHAcode / other:
ORPHA95502; ORPHA95502; ORPHA54595
Prolactin and Growth Hormone Signaling and Interlink Focused on the Mammosomatotroph Paradigm: A Comprehensive Review of the Literature
Author(s):
Araujo-Castro M, Marazuela M, Puig-Domingo M, Biagetti B
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
lactotroph and somatotroph PitNETs
Publication:
International Journal of Molecular Sciences v24.18 p14002
Year:
2023
ORPHAcode / other:
ORPHA99408
DOI:
10.3390/ijms241814002
Keywords:
acromegaly,dopamine receptor,growth hormone,mammosomatotroph,pituitary neuroendocrine tumors,plurihormonal tumors,prolactin,prolactin receptor,somatostatin receptor
Pasireotide effects on biochemical control and glycometabolic profile in acromegaly patients switched from combination therapies or unconventional dosages of somatostatin analogs
Author(s):
Corica G, Pirchio R, Milioto A, Nista F, Arecco A, Mattioli L, Auriemma RS, Cocchiara F, Pivonello R, Colao A, Ferone D, Gatto F
Affiliated Institution / ERN:
AOU Federico II - Naples ; IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v47.3 p683-697
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-023-02186-1
Keywords:
Acromegaly,Combination,Compliance,Glucose metabolism,Pasireotide,Pegvisomant
A comment from SIGIS, SIE and SIAMS: “Puberty blockers in transgender adolescents—a matter of growing evidence and not of ideology”
Author(s):
Ristori J, Motta G, Meriggiola MC, Bettocchi C, Crespi C, Falcone M, Lombardo F, Maggi M, Morelli G, Colao AM, Isidori AM, Fisher AD
Affiliated Institution / ERN:
AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ; University Hospital Florence ;
Condition / Disease:
Transgender, female to male
Publication:
Journal of Endocrinological Investigation v47.2 p479-481
Year:
2023
ORPHAcode / other:
ICD-10 F64
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
Author(s):
Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Carney complex
Publication:
Scientific Reports v13.1
Year:
2023
ORPHAcode / other:
ORPHA1359
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
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
A Comparison of Faster Insulin Aspart with Standard Insulin Aspart Using Hybrid Automated Insulin Delivery System in Active Children and Adolescents with Type 1 Diabetes: A Randomized Double-Blind Crossover Trial
Author(s):
Dovc K, Bergford S, Fröhlich-Reiterer E, Zaharieva DP, Potocnik N, Müller A, Lenarcic Z, Calhoun P, Fritsch M, Sourij H, Bratina N, Kollman C, Battelino T
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
diabetes type 1
Publication:
Diabetes Technology & Therapeutics v25.9 p612-621
Year:
2023
ORPHAcode / other:
DOI:
10.1089/dia.2023.0178
Keywords:
Adolescents,Automated insulin delivery,Children,Exercise,Faster acting insulin,Type 1 diabetes
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
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families
Author(s):
Vuylsteke A, Hannes L, Brems H, Devis K, Renard M, Uyttebroeck A, Legius E, Decallonne B
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Medullary thyroid carcinoma (MTC)
Publication:
European Journal of Endocrinology v189.3 p402-408
Year:
2023
ORPHAcode / other:
ORPHA1332
DOI:
10.1093/ejendo/lvad126
Keywords:
RET oncogene,MEN2A syndrome,medullary thyroid carcinoma,penetrance,surveillance
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
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
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
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
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
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
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
