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    Endo-ERN is focused on 8 main thematic groups (MTGs) which cover rare and/or complex endocrine conditions

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    • MTG1Adrenal
    • MTG2Disorders of Calcium & Phosphate Homeostasis
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    • MTG6Hypothalamic and Pituitary Conditions
    • MTG7Sex Development & Maturation
    • MTG8Thyroid
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Endo ERN
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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

Short-Term Changes in Bone Metabolism Among Transgender Men Starting Gender-Affirming Hormone Therapy: A Systematic Review and Meta-analysis


Author(s): Tienforti D, Marinelli L, Vervalcke J, Spagnolo L, Antolini F, Bichiri A, Baroni MG, Motta G, T’Sjoen G, Barbonetti A
Affiliated Institution / ERN: Ghent University Hospital ; AO City of Health and Science - Turin ;
Condition / Disease: Transgender, female to male
Publication: Calcified Tissue International v115.5 p624-635 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1007/s00223-024-01296-z Keywords: BMD,Bone turnover markers,GAHT,Gender incongruence,Testosterone,Transmen
MTG7

The effects of gender-affirming testosterone therapy in transgender men on the development of acne, acne severity and the relationship with clinical parameters: a three-year follow-up study


Author(s): Madsen MC, Berg JN, Fisher AD, T’Sjoen G, Rustemeyer T, Den Heijer M, Wiepjes CM, Dreijerink KM
Affiliated Institution / ERN: Ghent University Hospital ; Amsterdam UMC ; University Hospital Florence ;
Condition / Disease: Transgender, female to male
Publication: European Journal of Dermatology v34.5 p497-501 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1684/ejd.2024.4758 Keywords: acne,gender dysphoria,gender-affirming hormone therapy,testosterone,transgender
MTG7

Glucose metabolism outcomes after pituitary surgery in patients with acromegaly


Author(s): Pascual-Corrales E, Biagetti B, Marazuela M, Asensio-Wandosel D, Rodríguez Berrocal V, Irigaray Echarri A, Novo-Rodríguez C, Calatayud M, Bernabéu I, Alvarez-Escola C, Tenorio-Jiménez C, González Molero I, Iglesias P, Blanco C, de Miguel P, López Mezquita E, Lamas C, Aulinas A, Gracia P, Recio-Córdova JM, Sampedro-Nuñez M, Paja M, Moure Rodríguez MD, Fajardo-Montañana C, Cordido F, Menéndez Torre E, Percovich JC, García-Centeno R, Cámara R, Hanzu FA, Vicente Delgado A, González Fernández L, Guerrero-Pérez F, Ollero García-Agulló MD, Novoa-Testa I, Villar-Taibo R, Benítez Valderrama P, Abellán Galiana P, Venegas Moreno E, Vidal-Ostos De Lara F, Enseñat J, Aznar S, Asla Q, Aviles-Pérez MD, Puig-Domingo M, Araujo-Castro M
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ;
Condition / Disease: Acromegaly
Publication: Pituitary v27.5 p497-506 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11102-024-01415-x Keywords:
MTG6

Why and how optical molecular imaging should further be catalyzed by nuclear medicine and molecular imaging: report from the EANM piloting group


Author(s): Vonk J, Dierckx RA, Keereweer S, Vahrmeijer A, Verburg F, Kruijff S
Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ;
Condition / Disease: Follicular thyroid carcinoma
Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.12 p3501-3504 Year: 2024 ORPHAcode / other: ORPHA146
DOI: 10.1007/s00259-024-06729-3 Keywords:
MTG8

Parathyroid carcinoma and atypical parathyroid tumor: analysis of an Italian database


Author(s): Marini F, Marcucci G, Giusti F, Arvat E, Benvenga S, Bondanelli M, Castellino L, Camozzi V, Corbetta S, Davì MV, Famà F, Ferone D, Iacobone M, Loli P, Mantovani G, Pagotto U, Persani L, Perigli G, Piovesan A, Repaci A, Ruggeri RM, Eller-Vainicher C, Vera L, Zatelli MC, Zavatta G, Brandi ML
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Florence ; San Raffaele hospital - Milan ; AOU - Ferrara ; AOU polyclinic "G.Martino" of Messina ; University Hospital of Padova ; AOU-Bologna ; IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease: Parathyroid carcinoma
Publication: European Journal of Endocrinology v191.4 p416-425 Year: 2024 ORPHAcode / other: ORPHA143
DOI: 10.1093/ejendo/lvae121 Keywords:
MTG2

Diagnosis and management of pituitary adenomas in children and adolescents


Author(s): Maiter D, Chanson P, Constantinescu SM, Linglart A
Affiliated Institution / ERN: University Hospitals Saint-Luc ; Hôpital Bicêtre ;
Condition / Disease: Pituitary adenoma
Publication: European Journal of Endocrinology v191.4 pR55-R69 Year: 2024 ORPHAcode / other: ORPHA99408
DOI: 10.1093/ejendo/lvae120 Keywords:
MTG6

Policy for transitioning childhood-onset growth hormone deficiency from pediatric to adult endocrine care in Belgium


Author(s): Staels W, De Schepper J, Becker M, Lysy P, Klink D, Logghe K, den Brinker M, Rochtus A, Lapauw B, Cools M, Alexopoulou O, Bex M, Corvilain B, Crenier L, De Block C, Donckier J, Hilbrands R, Ponchon M, T'Sjoen G, Van Den Bruel A, Vandewalle S, Velkeniers B
Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; University Hospitals Saint-Luc ; UZ Brussels ; UZ Antwerpen ; UZ Leuven ;
Condition / Disease: Acquired pituitary hormone deficiency
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA95502
DOI: 10.3389/fendo.2024.1459998 Keywords: growth hormone deficiency (GHD),growth hormone stimulation tests,growth hormone therapy,policy for transition care,transition
MTG6

Relacorilant or surgery improved hemostatic markers in Cushing syndrome


Author(s): Simeoli C, Di Paola N, Stigliano A, Lardo P, Kearney T, Mezosi E, Ghigo E, Giordano R, Mariash CN, Donegan DM, Feelders RA, Hand AL, Araque KA, Moraitis AG, Pivonello R
Affiliated Institution / ERN: AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ; AO City of Health and Science - Turin ;
Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication: Journal of Endocrinological Investigation doi:10.1007/s40618-024-02468-2 Year: 2024 ORPHAcode / other: ORPHA647758
DOI: 10.1007/s40618-024-02468-2 Keywords: Coagulation factor,Cushing syndrome,Hypercoagulable state,Relacorilant,Surgery
MTG1

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)


Author(s): Yeste D, Baz-Redón N, Antolín M, Garcia-Arumí E, Mogas E, Campos-Martorell A, González-Llorens N, Aguilar-Riera C, Soler-Colomer L, Clemente M, Fernández-Cancio M, Camats-Tarruella N
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Familial hyperthyroidism due to mutations in TSH receptor
Publication: International Journal of Molecular Sciences v25.18 p10032 Year: 2024 ORPHAcode / other: ORPHA424
DOI: 10.3390/ijms251810032 Keywords: TSH receptor,TSHR,congenital hypothyroidism,functional studies,genetic variants,thyroid dyshormonogenesis,thyroid gland
MTG8

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus


Author(s): Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg J, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Liège ;
Condition / Disease: Acromegaly
Publication: Genome Medicine v16.1 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1186/s13073-024-01378-5 Keywords: 4C,Chromosome microarray,Enhancer,GPR101,HiC,Neo-TAD,Pituitary tumor,Prenatal diagnosis,Topologically associating domains,X-linked acrogigantism
MTG6

Collection on clinical photoacoustic imaging


Author(s): Vonk J, Knieling F, Kruijff S
Affiliated Institution / ERN: University Medical Center Groningen ; Charité Universitätsmedizin Berlin ;
Condition / Disease: Follicular thyroid carcinoma
Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.11 p3151-3152 Year: 2024 ORPHAcode / other: ORPHA146
DOI: 10.1007/s00259-024-06780-0 Keywords:
MTG8

Acromegaly management in the Nordic countries: A Delphi consensus survey


Author(s): Arlien‐Søborg MC, Dal J, Heck A, Stochholm K, Husted E, Feltoft CL, Rasmussen ÃK, Feldt‐Rasmussen U, Andreassen M, Klose MC, Nielsen TL, Andersen MS, Christensen LL, Krogh J, Jarlov A, Bollerslev J, Nermoen I, Oksnes M, Dahlqvist P, Olsson T, Berinder K, Hoybye C, Petersson M, Akerman A, Wahlberg J, Ekman B, Engstrom BE, Johannsson G, Ragnarsson O, Olsson D, Sigurjónsdóttir HÃ, Fougner SL, Matikainen N, Vehkavaara S, Metso S, Jaatinen P, Hämäläinen P, Rintamäki R, Yliaska I, Immonen H, Mäkimattila S, Cederberg‐Tamminen H, Viukari M, Nevalainen P, Nuutila P, Schalin‐Jäntti C, Burman P, Jørgensen JOL
Affiliated Institution / ERN: Copenhagen University Hospital, Rigshospitalet ; Oslo University Hospital ; Sahlgrenska University Hospital ;
Condition / Disease: Acromegaly
Publication: Clinical Endocrinology v101.3 p263-273 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1111/cen.15095 Keywords: Delphi,acromegaly,dopamine agonist,growth hormone,growth hormone receptor antagonist,insulin‐like growth factor i,somatostatin
MTG6

Diabetes mellitus in patients with acromegaly: pathophysiology, clinical challenges and management


Author(s): Esposito D, Boguszewski CL, Colao A, Fleseriu M, Gatto F, Jørgensen JOL, Ragnarsson O, Ferone D, Johannsson G
Affiliated Institution / ERN: AOU Federico II - Naples ; Sahlgrenska University Hospital ; Aarhus University Hospital ;
Condition / Disease: Acromegaly
Publication: Nature Reviews Endocrinology v20.9 p541-552 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1038/s41574-024-00993-x Keywords:
MTG6

Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome


Author(s): Serafim AB, Olivé-Cirera G, Ortega-González Ã, Kruer MC, Weese-Mayer D, Rand CM, Fons C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangué T, Sabater L
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ; Sant Joan de Déu Hospital ;
Condition / Disease: ROHHAD syndrome
Publication: Neurology Neuroimmunology & Neuroinflammation v11.5 Year: 2024 ORPHAcode / other: ORPHA293987
DOI: 10.1212/NXI.0000000000200276 Keywords:
MTG6

FOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER–WILLI SYNDROME


Author(s): de Laage de Meux P, Mosbah H, Cotton-Viard A, Cohen SY
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Prader-Willi syndrome
Publication: RETINAL Cases & Brief Reports v18.5 p647-650 Year: 2024 ORPHAcode / other: ORPHA739
DOI: 10.1097/icb.0000000000001441 Keywords:
MTG5

PRAP study—partial versus radical adrenalectomy in hereditary pheochromocytomas


Author(s): Xu K, Langenhuijsen JF, Viëtor CL, Feelders RA, van Ginhoven TM, Elhassan YS, Bioletto F, Parasiliti-Caprino M, Zandee WT, Kruijff S, Backman S, Åkerström T, Pamporaki C, Bechmann N, Lussey-Lepoutre C, Canu L, Steenaard RV, Driessens N, Velema M, Dreijerink KMA, Engelsman AF, Timmers HJLM, de Laat JM
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Radboud University Medical Centre Nijmegen ; Erasmus MC: University Medical Center Rotterdam ; University Medical Center Groningen ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Amsterdam UMC ;
Condition / Disease: Hereditary pheochromocytoma-paraganglioma
Publication: European Journal of Endocrinology v191.3 p345-353 Year: 2024 ORPHAcode / other: ORPHA29072
DOI: doi: 10.1093/ejendo/lvae108 Keywords: adrenalectomy,cortical-sparing,genetics,pheochromocytoma,total
MTG4

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome


Author(s): Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus P, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF
Affiliated Institution / ERN: Ghent University Hospital ; Universitätsklinikum Schleswig-Holstein ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease: Other
Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae562 Year: 2024 ORPHAcode / other: ORPHA98085
DOI: 10.1210/clinem/dgae562 Keywords: I-DSD registry,androgen insensitivity syndrome,disorders of sex development,gynecomastia
MTG7

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022


Author(s): Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega TASS, Baronio F, Ortolano R, Birkebaek NH, Bonfig W, Cools M, Davies JH, Thomas T, de Vries L, Elsedfy H, Amr NH, Flueck CE, Globa E, Guran T, Yavas-Abali Z, Guven A, Hannema SE, Iotova V, Konrad D, Lenherr-Taube N, Krone NP, Leka-Emiri S, Vlachopapadopoulou E, Lichiardopol C, Marginean O, Markosyan R, Neumann U, Niedziela M, Banaszak-Ziemska M, Phan-Hug F, Poyrazoglu S, Probst-Scheidegger U, Randell T, Russo G, Salerno M, Seneviratne S, Shnorhavorian M, Thankamony A, Tadokoro-Curraro R, van den Akker E, van Eck J, Vieites A, Wasniewska M, Ahmed SF
Affiliated Institution / ERN: Ghent University Hospital ; Erasmus MC: University Medical Center Rotterdam ; UMHAT “Sveta Marina” (Varna) ;
Condition / Disease: Chronic adrenocorticoid insufficiency
Publication: Journal of the Endocrine Society v8.10 Year: 2024 ORPHAcode / other: ORPHA101959
DOI: 10.1210/jendso/bvae145 Keywords: 21-hydroxylase deficiency,adrenal insufficiency,adverse events,benchmark,congenital adrenal hyperplasia,quality improvement,registry,sick day episodes
MTG1

Increased IGFBP Proteolysis, IGF-I Bioavailability, and Pappalysin Levels in Children With Prader-Willi Syndrome


Author(s): Barrios V, Martín-Rivada Ã, Martos-Moreno GÃ, Canelles S, Moreno-Macián F, De Mingo-Alemany C, Delvecchio M, Pajno R, Fintini D, Chowen JA, Argente J
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Prader-Willi syndrome
Publication: The Journal of Clinical Endocrinology & Metabolism v109.9 pe1776-e1786 Year: 2024 ORPHAcode / other: ORPHA739
DOI: 10.1210/clinem/dgad754 Keywords: GH treatment,IGFBP,PAPP-A,Prader-Willi syndrome,STC-1,free IGF-I
MTG5

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022


Author(s): Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F, Beccaria L, Candia F, Cauvin V, Cardani R, Cardella F, Favia A, Gallo F, Garzia P, Ghirri P, Innaurato S, Iughetti L, Laforgia N, Lo Presti D, Marsciani A, Meschi F, Panzeca R, Pasquino B, Pesavento R, Pezzino G, Reinstadler P, Ripoli C, Savastio S, Timpanaro T, Tumini S, Vento G
Affiliated Institution / ERN: Meyer Children’s Hospital Florence ; San Raffaele hospital - Milan ;
Condition / Disease: Neonatal Diabetes Mellitus
Publication: The Journal of Clinical Endocrinology & Metabolism v109.9 p2349-2357 Year: 2024 ORPHAcode / other: ORPHA224
DOI: 10.1210/clinem/dgae095 Keywords: autoimmune neonatal diabetes mellitus,congenital severe insulin resistance,molecular genetics,monogenic diabetes,neonatal diabetes mellitus
MTG3

Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia


Author(s): Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GB, Roberts E, Jeha GS, Farber RH, Chan JL
Affiliated Institution / ERN: AOU Federico II - Naples ; Ghent University Hospital ; Complejo Hospitalario Regional Virgen del Rocio ; CHU d'Angers ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: New England Journal of Medicine v391.6 p493-503 Year: 2024 ORPHAcode / other: ORPHA418
DOI: 10.1056/NEJMoa2404655 Keywords:
MTG7

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia


Author(s): Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH
Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; CHU d'Angers ; San Raffaele hospital - Milan ; AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: New England Journal of Medicine v391.6 p504-514 Year: 2024 ORPHAcode / other: ORPHA418
DOI: 10.1056/NEJMoa2404656 Keywords:
MTG7

Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant


Author(s): Boros E, Vilain C, Driessens N, Heinrichs C, Van Vliet G, Brachet C
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease: Congenital hypothyroidism
Publication: European Journal of Endocrinology v191.2 pK5-K9 Year: 2024 ORPHAcode / other: ORPHA442
DOI: DOI: 10.1093/ejendo/lvae100 Keywords: DEHAL,IYD,dyshormonogenesis,goiter,hypothyroidism
MTG8

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant


Author(s): Brachet C, Laemmle A, Cools M, Sauter K, De Baere E, Vanlander A, Pandey AV, du Toit T, Voegel CD, Heinrichs C, Verdin H, Flück CE
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Ghent University Hospital ;
Condition / Disease: Chronic adrenocorticoid insufficiency
Publication: European Journal of Endocrinology v191.2 p144-155 Year: 2024 ORPHAcode / other: ORPHA101959
DOI: 10.1093/ejendo/lvae090 Keywords: TXNRD2,gonadal insufficiency,mitochondrial reactive oxygen species,primary adrenal insufficiency,steroidogenesis
MTG1

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation


Author(s): Baz-Redón N, Antolín M, Clemente M, Campos A, Mogas E, Fernández-Cancio M, Zafon E, García-Arumí E, Soler L, González-Llorens N, Aguilar-Riera C, Camats-Tarruella N, Yeste D
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Familial hyperthyroidism due to mutations in TSH receptor
Publication: International Journal of Molecular Sciences v25.15 p8473 Year: 2024 ORPHAcode / other: ORPHA424
DOI: 10.3390/ijms25158473 Keywords: CH,DUOX2,congenital hypothyroidism,dual oxidase 2,phenotypic variability,thyroid dyshormonogenesis
MTG8

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis


Author(s): Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z
Affiliated Institution / ERN: University Hospital Aachen ; Hôpital Bicêtre ;
Condition / Disease: Silver-Russell Syndrome
Publication: Clinical Epigenetics v16.1 Year: 2024 ORPHAcode / other: ORPHA813
DOI: 10.1186/s13148-024-01713-y Keywords: Clinical diagnosis,DMR,Differentially methylated regions,Imprinting disorder,MLID,Molecular diagnosis,Multi-locus imprinting disturbance
MTG5

Towards the standardisation of adult person‐reported outcome domains in diabetes research: A Consensus Statement development panel


Author(s): Barnard‐Kelly K, Marrero D, de Wit M, Pouwer F, Khunti K, Hermans N, Pierce JS, Laffel L, Holt RIG, Battelino T, Naranjo D, Fosbury J, Fisher L, Polonsky W, Weissberg‐Benchell J, Hood KK, Schnell O, Messer LH, Danne T, Nimri R, Skovlund SE, Mader JK, Sherr JL, Schatz D, O'Neill S, Doble E, Town M, Lange K, de Beaufort C, Gonder‐Frederick L, Jaser SS, Liberman A, Klonoff D, ElSayed NA, Bannuru RR, Parkin CG, Snoek F
Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; Amsterdam UMC ; University Medical Centre Ljubljana ; Hannoversche Kinderheilanstalt ;
Condition / Disease: Diabetes mellitus
Publication: Diabetic Medicine v41.8 Year: 2024 ORPHAcode / other: ORPHA101952
DOI: 10.1111/dme.15332 Keywords: depression,distress,person‐reported outcomes,quality of life,treatment satisfaction,type 1 diabetes,type 2 diabetes
MTG3

18F‐fluoro‐ethyl‐tyrosine PET co‐registered with MRI in patients with persisting acromegaly


Author(s): Bakker LEH, Verstegen MJT, Manole DC, Lu H, Decramer TJM, Pelsma ICM, Kruit MC, Verbist BM, van de Ven A, Gurnell M, Ghariq I, van Furth WR, Biermasz NR, Pereira Arias‐Bouda LM
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Leiden University Medical Center ;
Condition / Disease: Prolactinoma
Publication: Clinical Endocrinology v101.2 p142-152 Year: 2024 ORPHAcode / other: ORPHA2965
DOI: 10.1111/cen.15079 Keywords: 18F‐fluoro‐ethyl‐tyrosine,acromegaly,functional imaging,multidisciplinary team,positron emission tomography,surgical decision making,transsphenoidal surgery
MTG6

The spectrum of cardiac abnormalities in patients with acromegaly: results from a case-control cardiac magnetic resonance study


Author(s): De Alcubierre D, Feola T, Cozzolino A, Pofi R, Galea N, Catalano C, Auriemma RS, Pirchio R, Pivonello R, Isidori AM, Giannetta E
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Acromegaly
Publication: Pituitary v27.4 p416-427 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11102-024-01403-1 Keywords: Acromegaly,Cardiac magnetic resonance,Cardiomyopathy,Growth hormone,IGF1,Myocardial hypertrophy
MTG6

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome


Author(s): Pozojevic J, Sivaprasad R, Laß J, Haarich F, Trinh J, Kakar N, Schulz K, Händler K, Verrijn Stuart AA, Giltay JC, van Gassen KL, Caliebe A, Holterhus P, Spielmann M, Hornig NC
Affiliated Institution / ERN: Universitätsklinikum Schleswig-Holstein ; University Medical Center Utrecht ;
Condition / Disease: Disorder of androgen action
Publication: Scientific Reports v14.1 Year: 2024 ORPHAcode / other: ORPHA754
DOI: 10.1038/s41598-024-65439-w Keywords:
MTG7
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