Endo-ERN Publications Database
948 publication(s) found matching the search criteria
Growth and disease burden in children with hypophosphatasia
Author(s):
Högler W, Linglart A, Petryk A, Kishnani PS, Seefried L, Fang S, Rockman-Greenberg C, Ozono K, Dahir K, Martos-Moreno GÃ
Affiliated Institution / ERN:
Hôpital Bicêtre ;
Condition / Disease:
Hypophosphatasia
Publication:
Endocrine Connections v12.5
Year:
2023
ORPHAcode / other:
ORPHA436
PAI-BEL: a Belgian multicentre survey of primary adrenal insufficiency
Author(s):
Driessens N, Prasai M, Alexopoulou O, De Block C, Van Caenegem E, T’Sjoen G, Nobels F, Ghys C, Vroonen L, Jonas C, Corvilain B, Maiter D
Affiliated Institution / ERN:
UZ Antwerpen ; University Hospitals Saint-Luc ; Ghent University Hospital ; Cyprus Institute of Neurology and Genetics ; Copenhagen University Hospital, Rigshospitalet ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
primary adrenal insufficiency, DSD, Congenital Adrenal Hyperplasia
Publication:
Endocrine Connections v12.6
Year:
2023
ORPHAcode / other:
ORPHA101958
DOI:
10.1530/ec-23-0044
Keywords:
glucocorticoid replacement,national survey,primary adrenal insufficiency
Outcome of COVID-19 infections in patients with adrenal insufficiency and excess
Author(s):
Nowotny HF, Bryce J, Ali SR, Giordano R, Baronio F, Chifu I, Tschaidse L, Cools M, van den Akker EL, Falhammar H, Appelman-Dijkstra NM, Persani L, Beccuti G, Ross IL, Grozinsky-Glasberg S, Pereira AM, Husebye ES, Hahner S, Faisal Ahmed S, Reisch N
Affiliated Institution / ERN:
Leiden University Medical Center ; Ghent University Hospital ; Bergen Hospital Trust ;
Condition / Disease:
CAH; Adrenal insufficiency; COVID-19;
Publication:
Endocrine Connections Volume 12: Issue 4
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1530/ec-22-0416
Keywords:
Cushing’s syndrome,SARS-CoV-2,adrenal insufficiency,glucocorticoids
PAI-BEL: a Belgian multicentre survey of primary adrenal insufficiency
Author(s):
Driessens N, Prasai M, Alexopoulou O, De Block C, Van Caenegem E, T’Sjoen G, Nobels F, Ghys C, Vroonen L, Jonas C, Corvilain B, Maiter D
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; University Hospitals Saint-Luc ; Ghent University Hospital ; UZ Antwerpen ; UZ Brussels ; University Hospital Liège ;
Condition / Disease:
Chronic adrenocorticoid insufficiency
Publication:
Endocrine Connections v12.6
Year:
2023
ORPHAcode / other:
ORPHA101959
DOI:
10.1530/EC-23-0044
Keywords:
glucocorticoid replacement,national survey,primary adrenal insufficiency
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism
Author(s):
Cotellessa L, Marelli F, Duminuco P, Adamo M, Papadakis GE, Bartoloni L, Sato N, Lang-Muritano M, Troendle A, Dhillo WS, Morelli A, Guarnieri G, Pitteloud N, Persani L, Bonomi M, Giacobini P, Vezzoli V
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Congenital hypogonadotropic Hypogonadism
Publication:
JCI Insight v8.5
Year:
2023
ORPHAcode / other:
ORPHA174590
DOI:
10.1172/jci.insight.161998
Keywords:
Development,Fertility,Genetic diseases,Genetics,Neurodevelopment
Consensus Recommendations for the Use of Automated Insulin Delivery Technologies in Clinical Practice
Author(s):
Phillip M, Nimri R, Bergenstal RM, Barnard-Kelly K, Danne T, Hovorka R, Kovatchev BP, Messer LH, Parkin CG, Ambler-Osborn L, Amiel SA, Bally L, Beck RW, Biester S, Biester T, Blanchette JE, Bosi E, Boughton CK, Breton MD, Brown SA, Buckingham BA, Cai A, Carlson AL, Castle JR, Choudhary P, Close KL, Cobelli C, Criego AB, Davis E, de Beaufort C, de Bock MI, DeSalvo DJ, DeVries JH, Dovc K, Doyle FJ, Ekhlaspour L, Shvalb NF, Forlenza GP, Gallen G, Garg SK, Gershenoff DC, Gonder-Frederick LA, Haidar A, Hartnell S, Heinemann L, Heller S, Hirsch IB, Hood KK, Isaacs D, Klonoff DC, Kordonouri O, Kowalski A, Laffel L, Lawton J, Lal RA, Leelarathna L, Maahs DM, Murphy HR, Nørgaard K, O’Neal D, Oser S, Oser T, Renard E, Riddell MC, Rodbard D, Russell SJ, Schatz DA, Shah VN, Sherr JL, Simonson GD, Wadwa RP, Ward C, Weinzimer SA, Wilmot EG, Battelino T
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ; University Medical Centre Ljubljana ;
Condition / Disease:
diabetes
Publication:
Endocrine Reviews v44.2 p254-280
Year:
2023
ORPHAcode / other:
DOI:
10.1210/endrev/bnac022
Keywords:
automated insulin delivery,closed-loop,consensus recommendations,type 1 diabetes
Treatment burden, adherence, and quality of life in children with daily GH treatment in France
Author(s):
Coutant R, Tauber M, Demaret B, Henocque R, Brault Y, Montestruc F, Chassany O, Polak M, _ _
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
growth hormone deficiency (GHD)
Publication:
Endocrine Connections v12.4
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957;
DOI:
10.1530/ec-22-0464
Keywords:
growth hormone deficiency,patient-reported outcomes,quality of life,recombinant growth hormone,treatment burden
Perinatal, metabolic, and reproductive features inPPARG-related lipodystrophy
Author(s):
Gosseaume C, Fournier T, Jéru I, Vignaud M, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen J, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Genetic lipodystrophy
Publication:
European Journal of Endocrinology v188.3 p273-281
Year:
2023
ORPHAcode / other:
ORPHA98305
DOI:
10.1093/ejendo/lvad023
Keywords:
PPARG,homozygous PPARG variant,lipodystrophy,placenta,pregnancy
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
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
[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
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:
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
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
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
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
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
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
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:
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
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
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