Author(s): van Santen HM, Denzer C, Müller HL

Affiliated Institution / ERN: University Medical Center Utrecht ; Ulm University Medical Center ;

Condition / Disease: acquired hypothalamic obesity

Publication: Frontiers in Endocrinology v14 Year: 2024 ORPHAcode / other: ORPHA:689401

DOI: 10.3389/fendo.2023.1307889 Keywords: Craniopharyngioma,Setmelanotide,brain tumor,hypothalamic obesity,obesity

Author(s): Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Béliard S, Briet C, Donadille B, Dubois N, Gilly O, Jelliman S, Maître J, Reznik Y, Rimareix F, Vergès B, Vigouroux C, Dumas A

Affiliated Institution / ERN: University Hospitals Saint-Luc ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Familial partial lipodystrophy Type 1

Publication: European Journal of Endocrinology v190.1 p23-33 Year: 2024 ORPHAcode / other: ORPHA98306

DOI: 10.1093/ejendo/lvad169 Keywords: diagnostic pathway,lipodystrophy syndrome,rare disease,self-report

Author(s): Isand K, Feelders R, Brue T, Toth M, Deutschbein T, Reincke M, Kršek M, Santos A, Demtröder F, Chabre O, Strasburger CJ, Aulinas Maso A, Volke V, Pereira AM, Lohmann R, Gich Saladich I, Amaral C, Ambrogio A, Aranda G, Arosio M, Balomenaki M, Beck-Peccoz P, Berr-Kirmair C, Bertherat J, Bolanowski M, Bollerslev J, Thierry B, Cardoso H, Carvalho D, Cavagnini F, Ceccato P, Chabre O, Chanson P, Christ E, Demtröder Zentrum fur Endokrinologie F, Denes J, Deutschbein T, Dimopoulou C, Dreval A, Droste M, Duarte JS, Dusek T, Ertürk E, Evang JA, Fajardo C, Fazel J, Feelders RA, Fica S, García-Centeno R, Ghigo E, Goth M, Greenman Y, Halperin I, Hanzu FA, Hermus A, Johannsson G, Hubina E, Kamenicky P, Kasperlik-Zaluska A, Kirchner J, Kastelan D, Komerdus I, Kraljevic I, Krsek M, Kruszynska A, Lamas C, Lambrescu I, Lang S, Luger A, Maiter D, Marpole N, Martin S, Martinie M, Martins Oliveira MJ, Moros O, Netea-Maier R, Newell-Price J, Orbetzova M, Paiva I, Pecori Giraldi F, Percovich JC, Pereira AM, Pfeiffer M, Pickel J, Pirags V, Ragnarsson O, Reghina AD, Reincke M, Riesgo P, Roberts M, Roerink S, Rowan C, Rudenko P, Sahnoun MA, Salvador J, Santos A, Scaroni C, Sigurjonsdottir HA, Skoric Polovina T, Smith R, Stachowska B, Stalla G, Strasburger C, Tabarin A, Terzolo M, Tőke J, Tóth M, Touraine P, Trainer PJ, Tsagarakis S, Valassi E, Vila G, Vinay S, Wagenmakers M, Webb S, Werner S, Young J, Zdunowski P, Zacharieva S, Zopf K, Zopp S, Zosin I, Webb SM, Wass J, Valassi E

Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Assistance Publique-Hôpitaux de Marseille ; University Hospital Würzburg ; Klinikum der Universität München ; Charité Universitätsmedizin Berlin ; Erasmus MC: University Medical Center Rotterdam ; Amsterdam UMC ;

Condition / Disease: Cushing disease

Publication: European Journal of Endocrinology v190.1 p75-85 Year: 2024 ORPHAcode / other: ORPHA96253

DOI: 10.1093/ejendo/lvad176 Keywords: Cushing's syndrome,ERCUSYN,risk factors,venous thromboembolism

Author(s): Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Béliard S, Briet C, Donadille B, Dubois N, Gilly O, Jelliman S, Maître J, Reznik Y, Rimareix F, Vergès B, Vigouroux C, Dumas A

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Genetic lipodystrophy

Publication: European Journal of Endocrinology v190.1 p23-33 Year: 2024 ORPHAcode / other: ORPHA98305

DOI: 10.1093/ejendo/lvad169 Keywords: diagnostic pathway,lipodystrophy syndrome,rare disease,self-report

Author(s): Dharmayat KI, Vallejo-Vaz AJ, Stevens CA, Brandts JM, Lyons AR, Groselj U, Abifadel M, Aguilar-Salinas CA, Alhabib K, Alkhnifsawi M, Almahmeed W, Alnouri F, Alonso R, Al-Rasadi K, Ashavaid TF, Banach M, Béliard S, Binder C, Bourbon M, Chlebus K, Corral P, Cruz D, Descamps OS, Drogari E, Durst R, Ezhov MV, Genest J, Harada-Shiba M, Holven KB, Humphries SE, Khovidhunkit W, Lalic K, Laufs U, Liberopoulos E, Roeters van Lennep J, Lima-Martinez MM, Lin J, Maher V, März W, Miserez AR, Mitchenko O, Nawawi H, Panayiotou AG, Paragh G, Postadzhiyan A, Reda A, Reiner Å, Reyes X, Sadiq F, Sahebkar A, Schunkert H, Shek AB, Stroes E, Su T, Subramaniam T, Susekov A, Vázquez Cárdenas A, Huong Truong T, Tselepis AD, Vohnout B, Wang L, Yamashita S, Al-Sarraf A, Al-Sayed N, Davletov K, Dwiputra B, Gaita D, Kayikcioglu M, Latkovskis G, Marais AD, Thushara Matthias A, Mirrakhimov E, Nordestgaard BG, Petrulioniene Z, Pojskic B, Sadoh W, Tilney M, Tomlinson B, Tybjærg-Hansen A, Viigimaa M, Catapano AL, Freiberger T, Hovingh GK, Mata P, Soran H, Raal F, Watts GF, Schreier L, Bañares V, Greber-Platzer S, Baumgartner-Kaut M, de Gier C, Dieplinger H, Höllerl F, Innerhofer R, Karall D, Lischka J, Ludvik B, Mäser M, Scholl-Bürgi S, Thajer A, Toplak H, Demeure F, Mertens A, Balligand J, Stephenne X, Sokal E, Petrov I, Goudev A, Nikolov F, Tisheva S, Yotov Y, Tzvetkov I, Hegele RA, Gaudet D, Brunham L, Ruel I, McCrindle B, Cuevas A, Perica D, Symeonides P, Trogkanis E, Kostis A, Ioannou A, Mouzarou A, Georgiou A, Stylianou A, Miltiadous G, Iacovides P, Deltas C, Vrablik M, Urbanova Z, Jesina P, Tichy L, Hyanek J, Dvorakova J, Cepova J, Sykora J, Buresova K, Pipek M, Pistkova E, Bartkova I, S|ulakova A, Toukalkova L, Spenerova M, Maly J, Benn M, Bendary A, Elbahry A, Ferrières J, Ferrieres D, Peretti N, Bruckert E, Gallo A, Valero R, Mourre F, Aouchiche K, Reynaud R, Tounian P, Lemale J, Boccara F, Moulin P, Charrières S, Di Filippo M, Cariou B, Paillard F, Dourmap C, Pradignac A, Verges B, Simoneau I, Farnier M, Cottin Y, Yelnik C, Hankard R, Schiele F, Durlach V, Sultan A, Carrié A, Rabès J, Sanin V, Schmieder RS, Ates S, Rizos CV, Skoumas I, Tziomalos K, Rallidis L, Kotsis V, Doumas M, Skalidis E, Kolovou G, Kolovou V, Garoufi A, Koutagiar I, Polychronopoulos G, Kiouri E, Antza C, Zacharis E, Attilakos A, Sfikas G, Koumaras C, Anagnostis P, Anastasiou G, Liamis G, Adamidis P, Milionis H, Lambadiari V, Stabouli S, Filippatos T, Mollaki V, Tsaroumi A, Lamari F, Proyias P, Harangi M, Reddy LL, Shah SAV, Ponde CK, Dalal JJ, Sawhney JP, Verma IC, Hosseini S, Jamialahmadi T, Alareedh M, Shaghee F, Rhadi SH, Abduljalal M, Alfil S, Kareem H, Cohen H, Leitersdorf E, Schurr D, Shpitzen S, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Casula M, Galimberti F, Gazzotti M, Olmastroni E, Sarzani R, Ferri C, Repetti E, Giorgino F, Suppressa P, Bossi AC, Borghi C, Muntoni S, Cipollone F, Scicali R, Pujia A, Passaro A, Berteotti M, Pecchioli V, Pisciotta L, Mandraffino G, Pellegatta F, Mombelli G, Branchi A, Fiorenza AM, Pederiva C, Werba JP, Parati G, Nascimbeni F, Iughetti L, Fortunato G, Cavallaro R, Iannuzzo G, Calabrò P, Cefalù AB, Capra ME, Zambon A, Pirro M, Sbrana F, Trenti C, Minicocci I, Federici M, Del Ben M, Buonuomo PS, Moffa S, Pipolo A, Citroni N, Guardamagna O, Lia S, Benso A, Biolo GB, Maroni L, Lupi A, Bonanni L, Rinaldi E, Zenti MG, Masuda D, Mahfouz L, Jambart S, Ayoub C, Ghaleb Y, Kasim NAM, Nor NSM, Al-Khateeb A, Kadir SHSA, Chua Y, Razman AZ, Nazli SA, Ranai NM, Latif AZA, Torres MTM, Mehta R, Martagon AJ, Ramirez GAG, Antonio-Villa NE, Vargas-Vazquez A, Elias-Lopez D, Retana GG, Encinas BR, Macıas JJC, Zazueta AR, Alvarado RM, Portano JDM, Lopez HA, Sauque-Reyna L, Gomez Herrera LG, Simental Mendia LE, Aguilar HG, Cooremans ER, Aparicio BP, Zubieta VM, Gonzalez PAC, Ferreira-Hermosillo A, Portilla NC, Dominguez GJ, Garcia AYR, Arriaga Cazares HE, Gonzalez Gonzalez JR, Mendez Valencia CV, Padilla Padilla FG, Prado RM, De los Rios Ibarra MO, Arjona Villica~na RD, Acevedo Rivera KJ, Carrera RA, Alvarez JA, Amezcua Martinez JC, Barrera Bustillo MdlR, Vargas GC, Chacon RC, Figueroa Andrade MH, Ortega AF, Alcala HG, Garcia de Leon LE, Guzman BG, Gardu~no Garcia JJ, Garnica Cuellar JC, Gomez Cruz JR, Garcia AH, Holguin Almada JR, Herrera UJ, Sobrevilla FL, Rodriguez EM, Sibaja CM, Medrano Rodriguez AB, Morales Oyervides JC, Perez Vazquez DI, Reyes Rodriguez EA, Osorio MLR, Saucedo JR, Tamayo MT, Valdez Talavera LA, Vera Arroyo LE, Zepeda Carrillo EA, Galema-Boers A, Weigman A, Bogsrud MP, Malik M, Shah S, Khan SA, Rana MA, Batool H, Starostecka E, Konopka A, Lewek J, Bielecka-Dąbrowa A, Gach A, Jóźwiak J, Pajkowski M, Romanowska-Kocejko M, Żarczyńska-Buchowiecka M, Hellmann M, Chmara M, Wasąg B, Parczewska A, Gilis-Malinowska N, Borowiec-Wolna J, Stróżyk A, Michalska-Grzonkowska A, Chlebus I, Kleinschmidt M, Wojtecka A, Zdrojewski T, Myśliwiec M, Hennig M, Medeiros AM, Alves AC, Almeida AF, Lopes A, Guerra A, Bilhoto C, Simões F, Silva F, Lobarinhas G, Gama G, Palma I, Salgado JM, Matos LD, Moura Md, Virtuoso MJ, Tavares M, Ferreira P, Pais P, Garcia P, Coelho R, Ribeiro R, Correia S, Sadykova D, Slastnikova E, Alammari D, Mawlawi HA, Alsahari A, Khudary AA, Alrowaily NL, Rajkovic N, Popovic L, Singh S, Rasulic I, Petakov A, Lalic NM, Peng FK, Vasanwala RF, Venkatesh SA, Raslova K, Fabryova L, Nociar J, Šaligova J, Potočňáková L, Kozárová M, Varga T, Kadurova M, Debreova M, Novodvorsky P, Gonova K, Klabnik A, Buganova I, Battelino T, Bizjan BJ, Debeljak M, Kovac J, Mlinaric M, Molk N, Sikonja J, Sustar U, Podkrajsek KT, Muñiz-Grijalvo O, Díaz-Díaz JL, de Andrés R, Fuentes-Jiménez F, Blom D, Miserez EB, Shipton JL, Ganokroj P, Futema M, Ramaswami U, Alieva RB, Fozilov KG, Khoshimov SU, Nizamov UI, Abdullaeva GJ, Kan LE, Abdullaev AA, Zakirova DV, Do D, Nguyen M, Kim N, Le T, Le H, Santos R, Ray KK

Affiliated Institution / ERN: University Medical Centre Ljubljana ;

Condition / Disease: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study/Familial hypercholesterolaemia

Publication: The Lancet v403.10421 p55-66 Year: 2024 ORPHAcode / other:

DOI: 10.1016/s0140-6736(23)01842-1 Keywords:

Author(s): Martos-Moreno GÃ, Rockman-Greenberg C, Ozono K, Petryk A, Kishnani PS, Dahir KM, Seefried L, Fang S, Högler W, Linglart A

Affiliated Institution / ERN: Hôpital Bicêtre ;

Condition / Disease: Hypophosphatasia

Publication: Hormone Research in Paediatrics v97.3 p233-242 Year: 2024 ORPHAcode / other: ORPHA436

DOI: 10.1159/000531865 Keywords: Alkaline phosphatase,Disease burden,Enzyme replacement therapy,Hypophophatasia

Author(s): Uygur MM, Villanova M, Frara S, Giustina A

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Acromegaly

Publication: touchREVIEWS in Endocrinology v20.1 Year: 2024 ORPHAcode / other: ORPHA963

DOI: 10.17925/EE.2024.20.1.9 Keywords: Acromegaly,Pituitary Tumor Centers of Excellence (PTCOE),efficacy,injectable somatostatin ligands,oral octreotide capsules (OOC),patient adherence,quality of life,somatostatin analogues,therapy,transient permeation enhancer

Author(s): Donegan DM, Pivonello R, Stigliano A, Lardo P, Kearney T, Mezősi E, Ghigo E, Giordano R, Mariash CN, Feelders RA, Donaldson K, Darpo B, Xue H, Custodio JM, Hand AL, Moraitis AG

Affiliated Institution / ERN: AOU Federico II - Naples ; AO City of Health and Science - Turin ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma

Publication: Endocrine Practice v30.1 p11-18 Year: 2024 ORPHAcode / other: ORPHA647758

DOI: 10.1016/j.eprac.2023.09.011 Keywords: Cushing syndrome,QT interval prolongation,cardiac safety,relacorilant,selective glucocorticoid receptor modulator

Author(s): Allosso F, Dalakas K, Bergthorsdottir R, Chantzichristos D, Hessman E, Nwaru BI, Bobbio E, Pasquali D, Johannsson G, Esposito D

Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ; Sahlgrenska University Hospital ;

Condition / Disease: Chronic adrenocorticoid insufficiency

Publication: BMJ Open v14.1 pe076582 Year: 2024 ORPHAcode / other: ORPHA101959

DOI: 10.1136/bmjopen-2023-076582 Keywords: Adrenal disorders,CARDIOLOGY,General endocrinology,Mortality,Pituitary disorders

Author(s): Grootjen LN, Diene G, Molinas C, Beauloye V, Huisman TM, Visser JA, Delhanty PJ, Kerkhof GF, Tauber M, Hokken-Koelega AC

Affiliated Institution / ERN: CHU de Toulouse ;

Condition / Disease: Prader-Willi syndrome

Publication: Hormone Research in Paediatrics v97.4 p343-352 Year: 2024 ORPHAcode / other: ORPHA739

DOI: 10.1159/000534560 Keywords: Children,Ghrelin,Growth hormone,Infants,Prader-Willi syndrome

Author(s): de Vries LH, Lodewijk L, Ververs T, Poot AJ, van Rooij R, Brosens LAA, de Krijger RR, Rinkes IHMB, Vriens MR, de Keizer B

Affiliated Institution / ERN: University Medical Center Utrecht ;

Condition / Disease: Follicular thyroid carcinoma

Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.2 p512-520 Year: 2024 ORPHAcode / other: ORPHA146

DOI: 10.1007/s00259-023-06449-0 Keywords: 68Ga-tilmanocept PET/CT,ICG-99mTc-nanocolloid,Sentinel lymph node,Thyroid carcinoma

Author(s): Maniatis AK, Carakushansky M, Galcheva S, Prakasam G, Fox LA, Dankovcikova A, Loftus J, Palladino AA, Resa MdlA, Taylor CT, Dattani MT, Lebl J

Affiliated Institution / ERN: Motol and Homolka University Hospital ; UMHAT “Sveta Marina” (Varna) ;

Condition / Disease: Combined pituitary hormone deficiencies, genetic forms

Publication: Therapeutic Advances in Endocrinology and Metabolism v15 Year: 2024 ORPHAcode / other: ORPHA95494

DOI: 10.1177/20420188241274363 Keywords: growth hormone,growth hormone deficiency,somatrogon,somatropin

Author(s): Jacobs A, Cifelli P, Delbeck D, Elbarbary N, Gevers E, Sumnik Z, Amaratunga SA, Pundziute Lyckå A, Casteels K

Affiliated Institution / ERN: UZ Leuven ;

Condition / Disease: diabetes mellitus

Publication: Hormone Research in Paediatrics p1-5 Year: 2024 ORPHAcode / other: ORPHA101952

DOI: 10.1159/000536019 Keywords:

Author(s): Manka P, Coombes JD, Sydor S, Swiderska‐Syn MK, Best J, Gauthier K, van Grunsven LA, Oo YH, Wang C, Diehl AM, Hönes GS, Moeller LC, Figge A, Boosman R, Faber KN, Tannapfel A, Goetze O, Aspichueta P, Lange CM, Canbay A, Syn W

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: Hepatic fibrosis, Thyroid hormone receptor

Publication: Liver International v44.1 p125-138 Year: 2024 ORPHAcode / other:

DOI: 10.1111/liv.15759 Keywords: HSC,TGFβ,liver fibrosis,thyroid hormone receptor α,thyroid hormones

Author(s): Lämmer C, Backeljauw P, Tauber M, Kanumakala S, Loche S, Otfried Schwab K, Pfäffle R, Höybye C, Lundberg E, Dahlgren J, Ek AE, Battelino T, Kriström B, Esmael A, Zabransky M

Affiliated Institution / ERN: CHU de Toulouse ; Karolinska University Hospital ; University Medical Centre Ljubljana ;

Condition / Disease: Prader-Willi syndrome

Publication: Therapeutic Advances in Endocrinology and Metabolism v15 Year: 2024 ORPHAcode / other: ORPHA739

DOI: 10.1177/20420188241264343 Keywords: Omnitrope®,PATRO Children,Prader–Willi syndrome,biosimilar,growth hormone replacement therapy,somatropin

Author(s): Petersenn S, Fleseriu M, Casanueva FF, Giustina A, Biermasz N, Biller BMK, Bronstein M, Chanson P, Fukuoka H, Gadelha M, Greenman Y, Gurnell M, Ho KKY, Honegger J, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Lodish M, Maiter D, Marcus HJ, McCormack A, Molitch M, Muir CA, Neggers S, Pereira AM, Pivonello R, Post K, Raverot G, Salvatori R, Samson SL, Shimon I, Spencer-Segal J, Vila G, Wass J, Melmed S

Affiliated Institution / ERN: AOU Federico II - Naples ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Hospices Civils de Lyon ; San Raffaele hospital - Milan ; Amsterdam UMC ;

Condition / Disease: Prolactinoma

Publication: Nature Reviews Endocrinology v20.1 p62-62 Year: 2024 ORPHAcode / other: ORPHA2965

DOI: 10.1038/s41574-023-00916-2 Keywords:

Author(s): de Vries LH, Lodewijk L, Ververs T, Poot AJ, van Rooij R, Brosens LAA, de Krijger RR, Rinkes IHMB, Vriens MR, de Keizer B

Affiliated Institution / ERN: University Medical Center Utrecht ; Sestre milosrdnice University Hospital Center ;

Condition / Disease: Differentiated thyroid carcinoma

Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.2 p512-520 Year: 2024 ORPHAcode / other: ORPHA146

DOI: 10.1007/s00259-023-06449-0 Keywords: 68Ga-tilmanocept PET/CT,ICG-99mTc-nanocolloid,Sentinel lymph node,Thyroid carcinoma

Author(s): Meira Goncalves J, Polónia P, Pereira J, Silva PA

Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;

Condition / Disease: Pituitary Apoplexy

Publication: Cureus doi:10.7759/cureus.50912 Year: 2023 ORPHAcode / other: ORPHA95613

DOI: 10.7759/cureus.50912 Keywords: non-hodgkin’s lymphoma,pituitary apoplexy,primary central nervous system lymphoma (pcnsl),primary cns lymphoma,sellar

Author(s): Aiello F, Palumbo S, Cirillo G, Tornese G, Fava D, Wasniewska M, Faienza MF, Bozzola M, Luongo C, Festa A, Miraglia del Giudice E, Grandone A

Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ;

Condition / Disease: MKRN3; central precocious puberty;

Publication: Journal of Endocrinological Investigation v47.6 p1477-1485 Year: 2023 ORPHAcode / other: ORPHA650182

DOI: 10.1007/s40618-023-02255-5 Keywords: Central precocious puberty,Children,MKRN3,Molecular screening,Mutation screening,Serum MKRN3

Author(s): Lincoff AM, Brown-Frandsen K, Colhoun HM, Deanfield J, Emerson SS, Esbjerg S, Hardt-Lindberg S, Hovingh GK, Kahn SE, Kushner RF, Lingvay I, Oral TK, Michelsen MM, Plutzky J, Tornøe CW, Ryan DH

Affiliated Institution / ERN: AOU - Ferrara ;

Condition / Disease: obesity

Publication: New England Journal of Medicine v389.24 p2221-2232 Year: 2023 ORPHAcode / other:

DOI: 10.1056/nejmoa2307563 Keywords:

Author(s): Cavarzere P, Pietrobelli A, Gandini A, Munari S, Baffico AM, Maffei M, Gaudino R, Guzzo A, Arrigoni M, Coviello D, Piacentini G, Antoniazzi F

Affiliated Institution / ERN: AOUI Verona ; IRCCS Istituto Giannina Gaslini, Genova ;

Condition / Disease: Laron syndrome

Publication: Journal of Endocrinological Investigation v47.5 p1237-1250 Year: 2023 ORPHAcode / other: ORPHA633

DOI: 10.1007/s40618-023-02243-9 Keywords: Genetic analysis,Growth,Next-generation sequencing (NGS),Short stature (SS),Variants of uncertain significance (VUS)

Author(s): Ramos EL, Dayan CM, Chatenoud L, Sumnik Z, Simmons KM, Szypowska A, Gitelman SE, Knecht LA, Niemoeller E, Tian W, Herold KC

Affiliated Institution / ERN: Public Pediatric Teaching Hospital ;

Condition / Disease: diabetes type 1

Publication: New England Journal of Medicine v389.23 p2151-2161 Year: 2023 ORPHAcode / other:

DOI: 10.1056/nejmoa2308743 Keywords:

Author(s): Mesquita F, Bernardino J, Henriques J, Raposo J, Ribeiro R, Paredes S

Affiliated Institution / ERN: APDP – Diabetes Portugal ;

Condition / Disease: diabetic nephropathy

Publication: Journal of Diabetes & Metabolic Disorders v23.1 p825-839 Year: 2023 ORPHAcode / other:

DOI: 10.1007/s40200-023-01357-4 Keywords: Clinical data,Diabetic nephropathy,Kidney disease,Machine learning,Risk prediction

Author(s): Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K

Affiliated Institution / ERN: AOU-Bologna ;

Condition / Disease: SBP2 defects - Rare thyroid signaling defect

Publication: Nature Communications v14.1 Year: 2023 ORPHAcode / other: ORPHA596426

DOI: 10.1038/s41467-023-43851-6 Keywords:

Author(s): Iglesias P, Biagetti B, Araujo-Castro M, Alcázar V, Guerrero-Pérez F, Rivero N, Casteràs A, Gómez CG, Izquierdo BG, Torres VV, Pascual-Corrales E, Pavón I, Villabona C, Cordido F, Díez JJ

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;

Condition / Disease: Pituitary adenomas

Publication: Experimental and Clinical Endocrinology & Diabetes v131.12 p631-638 Year: 2023 ORPHAcode / other: ORPHA963; ORPHA91349;

DOI: 10.1055/a-2197-3566 Keywords:

Author(s): Aglaia Kyrilli, Nunzia Tacelli, Lucia Russo, Laetitia Lebrun, Isabelle Salmon, Gilles Russ, Rodrigo Moreno-Reyes, Bernard Corvilain

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;

Condition / Disease: Thyroid nodules and cancer stratification

Publication: Eur Thyroid J 2(6):e230135 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1530/ETJ-23-0135 Keywords: utonomously functioning thyroid nodules, cytology; scintigraphy, thyroid cancer, ultrasound

Author(s): Petersenn S, Fleseriu M, Casanueva FF, Giustina A, Biermasz N, Biller BMK, Bronstein M, Chanson P, Fukuoka H, Gadelha M, Greenman Y, Gurnell M, Ho KKY, Honegger J, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Lodish M, Maiter D, Marcus HJ, McCormack A, Molitch M, Muir CA, Neggers S, Pereira AM, Pivonello R, Post K, Raverot G, Salvatori R, Samson SL, Shimon I, Spencer-Segal J, Vila G, Wass J, Melmed S

Affiliated Institution / ERN: AOU Federico II - Naples ; Leiden University Medical Center ;

Condition / Disease: Prolactinoma

Publication: Nature Reviews Endocrinology v19.12 p722-740 Year: 2023 ORPHAcode / other: ORPHA2965

DOI: 10.1038/s41574-023-00886-5 Keywords:

Author(s): LOPES-PINTO M, LACERDA-NOBRE E, MARQUES P, BUGALHO MJ

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Von Hippel-Lindau

Publication: Minerva Endocrinology v48.4 Year: 2023 ORPHAcode / other: ORPHA892

DOI: 10.23736/s2724-6507.23.03885-x Keywords:

Author(s): Ludwik KA, Opitz R, Jyrch S, Megges M, Weiner J, Beule D, Kühnen P, Stachelscheid H

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease: X-linked Allan-Herndon-Dudley syndrome

Publication: Stem Cell Research v73 p103256 Year: 2023 ORPHAcode / other: ORPHA59; ORPHA596426; ORPHA101955;

DOI: 10.1016/j.scr.2023.103256 Keywords: Allan-Herndon-Dudley syndrome,MCT8,SLC16A2

Author(s): Stark J, Tőke J, Huszty G, Nagy P, Bedics G, Bödör C, Tímár J, Tóth M

Affiliated Institution / ERN: Semmelweis University ;

Condition / Disease: Parathyroid carcinoma

Publication: Annales d'Endocrinologie v84.6 p761-763 Year: 2023 ORPHAcode / other: ORPHA143

DOI: 10.1016/j.ando.2023.06.003 Keywords: