Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
Author(s):
Righi B, Ali SR, Bryce J, Tomlinson JW, Bonfig W, Baronio F, Costa EC, Guaragna-Filho G, T’Sjoen G, Cools M, Markosyan R, Bachega TASS, Miranda MC, Iotova V, Falhammar H, Ceccato F, Stancampiano MR, Russo G, Daniel E, Auchus RJ, Ross RJ, Ahmed SF
Affiliated Institution / ERN:
UMHAT “Sveta Marina” (Varna) ; Klinikum Wels Grieskirchen ; Azienda USL-IRCCS di Reggio Emilia ; Karolinska University Hospital ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrine v80.3 p630-638
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1007/s12020-023-03330-w
Keywords:
21-hydroxylase deficiency,Co-morbidities,Congenital adrenal hyperplasia,Outcome,Registry
[18F] MFBG PET imaging: biodistribution, pharmacokinetics, and comparison with [123I] MIBG in neural crest tumour patients
Author(s):
Pauwels E, Celen S, Baete K, Koole M, Bechter O, Bex M, Renard M, Clement PM, Jentjens S, Serdons K, Van Laere K, Bormans G, Deroose CM
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Neural crest tumour
Publication:
European Journal of Nuclear Medicine and Molecular Imaging v50.4 p1134-1145
Year:
2023
ORPHAcode / other:
ORPHA276621; ORPHA276624
DOI:
10.1007/s00259-022-06046-7
Keywords:
Neuroblastoma,Norepinephrine transporter,PET,Phaeochromocytoma,[123I]MIBG,[18F]MFBG
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy
Author(s):
Pasquali D, Torella A, Grandone A, Luongo C, Morleo M, Peduto C, di Fraia R, Selvaggio LD, Allosso F, Accardo G, Zanobio MT, Maitz S, Mariani M, Selicorni A, Banfi S, Nigro V
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ; ERN BOND ;
Condition / Disease:
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy
Publication:
American Journal of Medical Genetics Part A v191.3 p823-830
Year:
2023
ORPHAcode / other:
ORPHA466943
DOI:
10.1002/ajmg.a.63061
Keywords:
hirsutism,hyperandrogenism,hypertrichosis,mild dysmorphic features,novel WAC pathogenic variant
A cross-sectional analysis of the association between testosterone and biopsy-proven non-alcoholic fatty liver disease in men with obesity
Author(s):
De Herdt C, De Block C, Francque S, Verrijken A, Van Dessel K, Van Gaal L, Van Cauwenberghe J, Dirinck E
Affiliated Institution / ERN:
UZ Antwerpen ;
Condition / Disease:
Publication:
Endocrine v80.1 p54-63
Year:
2023
ORPHAcode / other:
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
Author(s):
Fanis P, Skordis N, Phylactou LA, Neocleous V
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Hormones v22.1 p71-77
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1007/s42000-022-00410-w
Keywords:
21-hyrdroxylase deficiency,CAH,CAH-X syndrome,CYP21A2,Contiguous gene syndrome,Ehlers-Danlos syndrome,TNXA/TNXB chimeric gene,Virilization
Targeting PI3K/AKT signaling pathway in obesity
Author(s):
Savova MS, Mihaylova LV, Tews D, Wabitsch M, Georgiev MI
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
PI3K/AKT signaling pathway, obesity
Publication:
Biomedicine & Pharmacotherapy v159 p114244
Year:
2023
ORPHAcode / other:
ORPHA240371; ORPHA98267;
DOI:
10.1016/j.biopha.2023.114244
Keywords:
AKT,Alpelisib (PubChem CID: 56649450),Amentoflavone (PubChem CID: 5281600),Astragaloside IV (PubChem CID: 13943297),Betulinic acid (PubChem CID: 64971),Capsaicin (PubChem CID: 1548943),Carbenoxolone (PubChem CID: 636403),Catalpol (PubChem CID: 91520),Celastrol (PubChem CID: 122724),Druggability,Epigallocatechin gallate (PubChem CID: 650464),Ginsenoside Rb2 (PubChem CID: 6917976),Glycyrrhetinic acid (PubChem CID: 10114),Isoliquiritigenin (PubChem CID: 638278),Kaempferol (PubChem CID: 5280863),Maackiain (PubChem CID: 91510),Natural compounds,Nigelladine A (PubChem CID: 86302612),Nigelladine B (PubChem CID: 86302611),Nigelladine C (PubChem CID: 86302610),Obesity,Ononin (PubChem CID: 442813),Orientin (PubChem CID: 5281675),Oxyberberine (PubChem CID: 11066),PI3K,Pharmacotherapy
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
Author(s):
Fanis P, Skordis N, Phylactou LA, Neocleous V
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Hormones v22.1 p71-77
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1007/s42000-022-00410-w
Keywords:
21-hyrdroxylase deficiency,CAH,CAH-X syndrome,CYP21A2,Contiguous gene syndrome,Ehlers-Danlos syndrome,TNXA/TNXB chimeric gene,Virilization
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY
Author(s):
Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
Klinefelter
Publication:
Endocrine Connections v12.3
Year:
2023
ORPHAcode / other:
ORPHA484
DOI:
10.1530/ec-22-0500
Keywords:
47,XYY syndrome,Klinefelter syndrome,anti-Mullerian hormone,testosterone,trisomy X syndrome
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
Author(s):
Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, Rodger F, Docquier F, Toribio A, Bottolo L, Binder G, Fekete G, Elbracht M, Maher ER, Begemann M, Eggermann T
Affiliated Institution / ERN:
Universitätsklinikum Tübingen ;
Condition / Disease:
MLID epigenetic disorders
Publication:
Clinical Epigenetics v15.1
Year:
2023
ORPHAcode / other:
DOI:
10.1186/s13148-023-01453-5
Keywords:
Beckwith–Wiedemann syndrome,ImprintSeq,MS-MLPA,Maternal effect variants,Multilocus imprinting disturbances,Silver–Russell syndrome,Whole-exome sequencing
Mechanisms of paracellular transport of magnesium in intestinal and renal epithelia
Author(s):
Houillier P, Lievre L, Hureaux M, Prot‐Bertoye C
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ;
Condition / Disease:
Publication:
Annals of the New York Academy of Sciences v1521.1 p14-31
Year:
2023
ORPHAcode / other:
ORPHA306516
DOI:
10.1111/nyas.14953
Keywords:
HELIX syndrome,claudin,familial hypomagnesemia with hypercalciuria and nephrocalcinosis,paracellular ion transport,tight junction
Calvaria thickening in acromegaly
Author(s):
Cosme I, Marques P, Bugalho MJ
Affiliated Institution / ERN:
Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease:
Acromegaly
Publication:
Medicina Clínica v160.5 p227-228
Year:
2023
ORPHAcode / other:
ORPHA963
Serum LH/FSH ratios in 87 infants with differences of sex development
Author(s):
Ljubicic ML, Johannsen TH, Fischer MB, Upners EN, Busch AS, Main KM, Andersson A, Hagen CP, Juul A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume 12: Issue 3
Year:
2023
ORPHAcode / other:
Association of Achieving Time in Range Clinical Targets With Treatment Modality Among Youths With Type 1 Diabetes
Author(s):
Dovc K, Lanzinger S, Cardona-Hernandez R, Tauschmann M, Marigliano M, Cherubini V, Preikša R, Schierloh U, Clapin H, AlJaser F, Pelicand J, Shukla R, Biester T
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ;
Condition / Disease:
diabetes type 1
Publication:
JAMA Network Open v6.2 pe230077
Year:
2023
ORPHAcode / other:
ORPHA181372
Efficacy and safety of radiation therapy in advanced adrenocortical carcinoma
Author(s):
Kimpel O, Schindler P, Schmidt-Pennington L, Altieri B, Megerle F, Haak H, Pittaway J, Dischinger U, Quinkler M, Mai K, Kroiss M, Polat B, Fassnacht M
Affiliated Institution / ERN:
University Hospital Würzburg ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
British Journal of Cancer v128.4 p586-593
Year:
2023
ORPHAcode / other:
ORPHA1501
The Italian registry for patients with Prader–Willi syndrome
Author(s):
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D
Affiliated Institution / ERN:
University Hospital of Padova ; AOU Federico II - Naples ; AOU polyclinic "G.Martino" of Messina ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ; San Raffaele hospital - Milan ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Orphanet Journal of Rare Diseases v18.1
Year:
2023
ORPHAcode / other:
ORPHA739
DOI:
10.1186/s13023-023-02633-5
Keywords:
Genetic diseases,Prader–Willi syndrome,Quality,Rare diseases,Registry
The Italian registry for patients with Prader–Willi syndrome
Author(s):
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
Orphanet Journal of Rare Diseases v18.1
Year:
2023
ORPHAcode / other:
ORPHA739
DOI:
10.1186/s13023-023-02633-5
Keywords:
Genetic diseases,Prader–Willi syndrome,Quality,Rare diseases,Registry
Recurrence-Free Survival in Early and Locally Advanced Large Cell Neuroendocrine Carcinoma of the Lung after Complete Tumor Resection
Author(s):
Altieri B, La Salvia A, Modica R, Marciello F, Mercier O, Filosso PL, de Latour BR, Giuffrida D, Campione S, Guggino G, Fadel E, Papotti M, Colao A, Scoazec J, Baudin E, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
neuroendocrine tumor of the lung
Publication:
Journal of Personalized Medicine v13.2 p330
Year:
2023
ORPHAcode / other:
ORPHA877; ORPHA100101
DOI:
10.3390/jpm13020330
Keywords:
LCNEC,adjuvant therapy,age,lymph nodes,neuroendocrine tumor,prognosis,prognostic marker,pulmonary cancer,surgery,survival
Recombinant or endogenous thyroid-stimulating hormone for radioactive iodine therapy in thyroid cancer: state of knowledge and current controversies
Author(s):
Coerts HI, de Keizer B, Marlowe RJ, Verburg FA
Affiliated Institution / ERN:
University Medical Center Utrecht ;
Condition / Disease:
Thyroid cancer
Publication:
European Journal of Endocrinology v188.2 pR23-R35
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1093/ejendo/lvad006
Keywords:
radioactive iodine,recombinant human TSH,thyroid hormone withdrawal
Non-invasive follicular thyroid neoplasm with papillary-like nuclear feature: clinical, pathological, and molecular update 5 years after the nomenclature revision
Author(s):
Melo M, Ventura M, Cardoso L, Gaspar da Rocha A, Paiva I, Sobrinho-Simões M, Soares P
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
Thyroid cancer
Publication:
European Journal of Endocrinology v188.2 pR15-R22
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1093/ejendo/lvad004
Keywords:
NIFTP,NIFTP molecular,low-risk thyroid neoplasm,non-invasive follicular thyroid neoplasm with papillary-like nuclear feature,thyroid neoplasm,thyroid tumour
Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention
Author(s):
Bizzarri C, Capalbo D, Wasniewska MG, Baronio F, Grandone A, Cappa M
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Adrenal insufficiency
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA101958
DOI:
10.3389/fendo.2023.1133376
Keywords:
adrenal crisis,adrenal insufficiency,child,cortisol,hydrocortisone
Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice
Author(s):
Chen J, Salveridou E, Liebmann L, Sundaram SM, Doycheva D, Markova B, Hübner CA, Boelen A, Visser WE, Heuer H, Mayerl S
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Allan-Herndon-Dudley syndrome, thyroid hormone analog; thyroid hormone transport
Publication:
International Journal of Molecular Sciences v24.4 p3452
Year:
2023
ORPHAcode / other:
ORPHA59; ORPHA596426; ORPHA101955
DOI:
10.3390/ijms24043452
Keywords:
Allan-Herndon-Dudley syndrome,Ditpa,SLC16A2,SLCO1C1,Triac,thyroid hormone analog,thyroid hormone transport
Novel AIP mutation in exon 6 causing acromegaly in a German family
Author(s):
Detomas M, Altieri B, Flitsch J, Saeger W, Korbonits M, Deutschbein T
Affiliated Institution / ERN:
University Hospital Würzburg ;
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v46.8 p1705-1709
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-023-02031-5
Keywords:
AIP,Acromegaly,Colorectal cancer,Familial,GH,Gene,Growth hormone,Mutation,Pituitary adenoma,Twins
An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia
Author(s):
van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S
Affiliated Institution / ERN:
Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Aarhus University Hospital ; Antonio Cardarelli Hospital - Naples ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrine Connections v12.4
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1530/EC-22-0400
Keywords:
CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety
An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia
Author(s):
van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Klinikum der Universität München ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrine Connections Volume 12: Issue 4
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1530/ec-22-0400
Keywords:
CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis
Author(s):
Ertl D, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Acrodysostosis Type 2 (iPPSD5)
Publication:
Journal of Endocrinological Investigation v46.8 p1673-1684
Year:
2023
ORPHAcode / other:
ORPHA950
DOI:
10.1007/s40618-023-02026-2
Keywords:
Acrodysostosis,Auxology,Inactivating PTH/PTHrP signaling disorders,Pediatric,Recombinant human growth hormone,SGA,Short stature
Prader–Willi syndrome: Symptoms and topiramate response in light of genetics
Author(s):
Louveau C, Turtulici M, Consoli A, Poitou C, Coupaye M, Krebs M, Chaumette B, Iftimovici A
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Prader Willi syndrome
Publication:
Frontiers in Neuroscience v17
Year:
2023
ORPHAcode / other:
ORPHA739
DOI:
10.3389/fnins.2023.1126970
Keywords:
Prader–Willi,deletion,disomy,genetics,personalized medicine,topiramate,treatment
Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol
Author(s):
Clement SC, Visser WE, Lebbink CA, Albano D, Claahsen-van der Grinten HL, Czarniecka A, Dias RP, Dierselhuis MP, Dzivite-Krisane I, Elisei R, Garcia-Burillo A, Izatt L, Kanaka-Gantenbein C, Krude H, Lamartina L, Lorenz K, Luster M, Navardauskaitė R, Negre Busó M, Newbold K, Peeters RP, Pellegriti G, Piccardo A, Priego AL, Redlich A, de Sanctis L, Sobrinho-Simões M, van Trotsenburg ASP, Verburg FA, Vriens M, Links TP, Ahmed SF, van Santen HM
Affiliated Institution / ERN:
Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ; University Medical Center Groningen ; University Medical Center Utrecht ; Amsterdam UMC ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Aghia Sophia Children’s Hospital ; Charité Universitätsmedizin Berlin ; AO City of Health and Science - Turin ;
Condition / Disease:
Pediatric Thyroid cancer
Publication:
Endocrine Connections Volume 12: Issue 3
Year:
2023
ORPHAcode / other:
ORPHA146
Continuous glucose monitoring‐based time‐in‐range using insulin glargine 300 units/ml versus insulin degludec 100 units/ml in type 1 diabetes: The head‐to‐head randomized controlled InRange trial
Author(s):
Battelino T, Danne T, Edelman SV, Choudhary P, Renard E, Westerbacka J, Mukherjee B, Pilorget V, Coudert M, Bergenstal RM
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
Diabetes mellitus
Publication:
Diabetes, Obesity and Metabolism v25.2 p545-555
Year:
2023
ORPHAcode / other:
DOI:
10.1111/dom.14898
Keywords:
basal insulin,continuous glucose monitoring,glycaemic control,insulin analogues,randomized trial,type 1 diabetes
Effects of treatment for diabetes mellitus on testosterone concentrations: A systematic review
Author(s):
Van Cauwenberghe J, De Block C, Vanderschueren D, Antonio L
Affiliated Institution / ERN:
UZ Antwerpen ;
Condition / Disease:
testosterone and diabetes
Publication:
Andrology v11.2 p225-233
Year:
2023
ORPHAcode / other:
DOI:
10.1111/andr.13318
Keywords:
GLP1 receptor analogues,antidiabetic agents,antihyperglycemic agents,functional hypogonadism,hypogonadism,obesity
Fluctuations in Thyroid Hormone Levels During Initial Treatment for Differentiated Thyroid Carcinoma are Associated with Changes in Hemostasis: A Prospective Cohort Study
Author(s):
Links MH, Lefrandt JD, Lisman T, van der Boom T, Lukens MV, Meijer K, Links TP, Zandee WT
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Thyroid cancer
Publication:
Thyroid v33.2 p203-213
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1089/thy.2022.0299
Keywords:
TH withdrawal,THST,cardiovascular risk,differentiated thyroid carcinoma,hemostasis,thrombosis