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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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890 publication(s) found matching the search criteria

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:
Publication: Endocrine Connections Volume 12: Issue 4 Year: 2023 ORPHAcode / other:
DOI: 10.1530/ec-22-0464 Keywords:

Normal bone density but altered geometry in girls with Turner syndrome


Author(s): Schweizer R, Mayer J, Binder G
Affiliated Institution / ERN: Universitätsklinikum Tübingen ;
Condition / Disease: Turner syndrome
Publication: Journal of Pediatric Endocrinology and Metabolism v36.3 p270-277 Year: 2023 ORPHAcode / other: ORPHA:881
DOI: 10.1515/jpem-2022-0516 Keywords: SHOX deficiency,Turner syndrome,bone development,muscle,osteoporosis
MTG7

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry


Author(s): Dahir KM, Kishnani PS, Martos-Moreno GÃ, Linglart A, Petryk A, Rockman-Greenberg C, Martel SE, Ozono K, Högler W, Seefried L
Affiliated Institution / ERN: Hôpital Bicêtre ;
Condition / Disease: Hypophosphatasia
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA436
DOI: 10.3389/fendo.2023.1138599 Keywords: 6MWT,SF-36,alkaline phosphatase,fracture,health-related quality of life,mobility,pseudofracture,rare diseases
MTG2

Model-Informed Target Morning 17α-Hydroxyprogesterone Concentrations in Dried Blood Spots for Pediatric Congenital Adrenal Hyperplasia Patients


Author(s): Stachanow V, Neumann U, Blankenstein O, Alder-Baerens N, Bindellini D, Hindmarsh P, Ross RJ, Whitaker MJ, Melin J, Huisinga W, Michelet R, Kloft C
Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Pharmaceuticals v16.3 p464 Year: 2023 ORPHAcode / other: ORPHA418
DOI: 10.3390/ph16030464 Keywords: 17α-hydroxyprogesterone,congenital adrenal hyperplasia,dried blood spots,pediatrics,pharmacometrics,target concentration range
MTG1

Recent advances in understanding and managing pituitary adenomas


Author(s): Markou M, Lavrentaki A, Ntali G
Affiliated Institution / ERN: Evangelismos General Hospital ;
Condition / Disease: pituitary adenomas
Publication: Faculty Reviews v12 Year: 2023 ORPHAcode / other: ORPHA99408
DOI: 10.12703/r/12-6 Keywords: Pituitary adenomas,medical treatment,radiotherapy,targeted systemic treatment,transsphenoidal neurosurgery,tumorigenesis
MTG6

Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals


Author(s): Zheng Y, Rajcsanyi LS, Kowalczyk M, Giuranna J, Herpertz-Dahlmann B, Seitz J, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Giel K, Egberts K, Burghardt R, Föcker M, Al-Lahham S, Hebebrand J, Fuhrer D, Tan S, Zwanziger D, Peters T, Hinney A
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: lipocalin 2; Non-Syndromic Genetic Obesity
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA179490
DOI: 10.3389/fendo.2023.1137308 Keywords: Energy homeostasis,GWAS,bone marrow,lean body mass (LBM),secondary structure of protein
MTG5

Editorial: Genetic, epigenetic and molecular landscaping of puberty


Author(s): Howard SR, Fanis P, Nicolaides NC, Grandone A
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;
Condition / Disease: Puberty
Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:
DOI: 10.3389/fendo.2023.1178888 Keywords: Klinefelter syndrome,central precocious puberty (CPP),congenital hypogonadotropic hypogonadism,delayed puberty onset,epigenetics,puberty
MTG7

Inflammation-based scores as predictors of treatment response in advanced adrenocortical carcinoma


Author(s): Alessandra Mangone, Barbara Altieri, Mario Detomas, Alessandro Prete, Haider Abbas, Miriam Asia, Yasir S Elhassan, Giovanna Mantovani, Cristina L Ronchi
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Würzburg ;
Condition / Disease: Adrenocortical carcinoma (ACC)
Publication: Endocrine-Related Cancer Volume 30: Issue 4 Year: 2023 ORPHAcode / other: ORPHA1501
DOI: 10.1530/ERC-22-0372 Keywords: EDP; adrenal cancer, chemotherapy, mitotane, neutrophil–lymphocyte ratio, platinum, prognosis
MTG1

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth


Author(s): Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT
Affiliated Institution / ERN: University Hospital Motol ;
Condition / Disease: neonatal diabetes
Publication: Journal of Clinical Investigation v133.6 Year: 2023 ORPHAcode / other: ORPHA183625; ORPHA101952
DOI: 10.1172/jci165402 Keywords: Beta cells,Development,Endocrinology,Insulin,Obstetrics/gynecology
MTG3

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
DOI: 10.1530/ec-22-0240 Keywords: body mass index,growth,height,hypophosphatasia,registry
MTG2

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
MTG1

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
MTG1

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
MTG1

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
MTG6 MTG7

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
MTG3

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
MTG5 MTG6

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
MTG3

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
MTG7

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
MTG7

[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
MTG1

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:
DOI: 10.1007/s12020-022-03245-y Keywords: Adiposity,Fibrosis,Liver biopsy,Men,NAFLD,Testosterone
MTG5

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
MTG7

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
MTG5

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
DOI: 10.1016/j.medcli.2022.10.003 Keywords:
MTG6

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
MTG2

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

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
MTG7

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
MTG7

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:
DOI: 10.1530/ec-22-0275 Keywords:
MTG7

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
DOI: 10.1001/jamanetworkopen.2023.0077 Keywords:
MTG3
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Newsletter Tracking

The Endo-ERN newsletter makes use of tracking in order to be able to conduct a statistical analysis of the success or failure of online marketing campaigns. Endo-ERN may see if an email containing a newsletter was opened by a user, when it was opened, and which links were opened. 
The data collected through this tracking is generated and stored by Endo-ERN and is not shared with third parties, but may be used to adapt future content of newsletters in order to better meet the interests of our subscribers.

Contact details

For any questions regarding our privacy policy, please contact the Endo-ERN coordinating office.

You have the right to be forgotten and removed completely from the Endo-ERN contact database. To request this, please contact the Endo-ERN coordinating office.

Endo-ERN Coordinating Center, Meibergdreef 9, 1105 AZ  AMSTERDAM. The Netherlands

 info@endo-ern.eu
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