Endo-ERN Publications Database
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:
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
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
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
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
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
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
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
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
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
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
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
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
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
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