Endo-ERN Publications Database
725 publication(s) found matching the search criteria
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
Increased IGFBP Proteolysis, IGF-I Bioavailability, and Pappalysin Levels in Children With Prader-Willi Syndrome
Author(s):
Barrios V, MartÃn-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
Primary Hypothyroidism in Childhood Cancer Survivors Treated With Radiation Therapy: A PENTEC Comprehensive Review
Author(s):
Milano MT, Vargo JA, Yorke ED, Ronckers CM, Kremer LC, Chafe SM, van Santen HM, Marks LB, Bentzen SM, Constine LS, Vogelius IR
Affiliated Institution / ERN:
Amsterdam UMC ; University Medical Center Utrecht ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease:
Pediatric primary hypothyroidism
Publication:
International Journal of Radiation Oncology*Biology*Physics v119.2 p482-493
Year:
2024
ORPHAcode / other:
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype
Author(s):
Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Septo-optic Dysplasia
Publication:
Neuropediatrics v55.03 p191-195
Year:
2024
ORPHAcode / other:
ORPHA3157; ORPHA46; ORPHA95488;
European Society of Endocrinology and Endocrine Society Joint Clinical Guideline: Diagnosis and therapy of glucocorticoid-induced adrenal insufficiency
Author(s):
Felix Beuschlein, Tobias Else, Irina Bancos, Stefanie Hahner, Oksana Hamidi, Leonie van Hulsteijn, Eystein S Husebye, Niki Karavitaki, Alessandro Prete, Anand Vaidya, Christine Yedinak, Olaf M Dekkers
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
European Journal of Endocrinology Volume 190, Issue 5
Year:
2024
ORPHAcode / other:
ORPHA418; ORPHA96253; ORPHA647758; ORPHA189427; ORPHA314749;
DOI:
10.1093/ejendo/ivad008
Keywords:
Adrenal insufficiency, glucocorticoids, steroids, adrenal crisis, substitution therapy, glucocorticoid withdrawal
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Author(s):
Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M’Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C
Affiliated Institution / ERN:
Hôpital Bicêtre ;
Condition / Disease:
Hypophosphatasia
Publication:
Osteoporosis International v35.3 p439-449
Year:
2024
ORPHAcode / other:
ORPHA436
DOI:
10.1007/s00198-023-06859-8
Keywords:
Diagnostic parameters,HPP diagnosis in adults,Hypophosphatasia,Systematic review
IGF‐1 as screening tool for acromegaly and adult‐onset growth hormone deficiency in the Netherlands
Author(s):
Postma MR, van Beek AP, van der Klauw MM, Lentjes EGWM, Muller Kobold AC
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Pituitary
Publication:
Clinical Endocrinology v100.3 p260-268
Year:
2024
ORPHAcode / other:
ORPHA963; ORPHA95502;
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
Author(s):
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M’Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM
Affiliated Institution / ERN:
Hôpital Bicêtre ;
Condition / Disease:
Hypophosphatasia
Publication:
Osteoporosis International v35.3 p431-438
Year:
2024
ORPHAcode / other:
ORPHA436
Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement
Author(s):
Cools M, Cheng EY, Hall J, Alderson J, Amies Oelschlager A, Balen AH, Chan Y, Geffner ME, Gravholt CH, Güran T, Hoebeke P, Lee P, Magritte E, Matos D, McElreavey K, Meyer-Bahlburg HF, Rink RC, Springer A, Szymanski KM, Vilain E, Williams J, Wolffenbuttel KP, Sandberg DE, Subramaniam R
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
DSD
Publication:
Hormone Research in Paediatrics p1-17
Year:
2024
ORPHAcode / other:
ORPHA98085; ORPHA2982; ORPHA325546
Presentation of Graves’ orbitopathy within European Group On Graves’ Orbitopathy (EUGOGO) centres from 2012 to 2019 (PREGO III)
Author(s):
Schuh A, Ayvaz G, Baldeschi L, Baretić M, Bechtold D, Boschi A, Brix TH, Burlacu M, Ciric J, Covelli D, Currò N, Donati S, Eckstein AK, Fichter N, Führer D, Horn M, Jabłońska-Pawlak A, Juri Mandić J, Kahaly GJ, Konuk O, Langbein A, Lanzolla G, Marcocci C, Marinò M, Miśkiewicz P, Beleslin BN, Pérez-Lázaro A, Pérez-López M, Ponto KA, Quinn A, Rudofsky G, Salvi M, Schittkowski MP, Tanda ML, Toruner F, Vaidya B, Hintschich CR
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Graves' orbitopathy
Publication:
British Journal of Ophthalmology v108.2 p294-300
Year:
2024
ORPHAcode / other:
ORPHA466682
Semen quality and metabolic profile in people with type 1 diabetes with and without erectile dysfunction: a cross-sectional study
Author(s):
Longo M, Caruso P, Varro C, Tomasuolo M, Cirillo P, Scappaticcio L, Romano L, Arcaniolo D, Maiorino MI, Bellastella G, De Sio M, Esposito K
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
diabetes type 1
Publication:
Journal of Endocrinological Investigation v47.7 p1787-1795
Year:
2024
ORPHAcode / other:
The economic burden of pediatric growth hormone deficiency in Italy: a cost of illness study
Author(s):
Cappa M, Pozzobon G, Orso M, Maghnie M, Patti G, Spandonaro F, Granato S, Novelli G, La Torre D, Salerno M, Polistena B
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
growth hormone deficiency
Publication:
Journal of Endocrinological Investigation v47.7 p1743-1750
Year:
2024
ORPHAcode / other:
ORPHA631; ORPHA101957;
DOI:
10.1007/s40618-023-02277-z
Keywords:
Children,Cost of illness,Economic burden,Growth hormone deficiency,Italy
Patients’ perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
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
Sentinel lymph node detection in thyroid carcinoma using [68Ga]Ga-tilmanocept PET/CT: a proof-of-concept study
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
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
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
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series
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
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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:
Longitudinal Changes in Acylated versus Unacylated Ghrelin Levels May Be Involved in the Underlying Mechanisms of the Switch in Nutritional Phases in Prader-Willi Syndrome
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
Thyroid hormone receptor alpha modulates fibrogenesis in hepatic stellate cells
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
Primary Central Nervous System Lymphoma Mimicking the Presentation of Pituitary Apoplexy: A Case Report
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
MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
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
Semaglutide and Cardiovascular Outcomes in Obesity without Diabetes
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:
Teplizumab and β-Cell Function in Newly Diagnosed Type 1 Diabetes
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:
Machine learning techniques to predict the risk of developing diabetic nephropathy: a literature review
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
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation
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
Parathyroid cancer with MTOR gene mutation: Case report and review of the literature
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
Long-term surveillance of a Von Hippel-Lindau disease pituitary stalk hemangioblastoma
Author(s):
LOPES-PINTO M, LACERDA-NOBRE E, MARQUES P, BUGALHO MJ
Affiliated Institution / ERN:
Centro Hospitalar de Lisboa Norte, EPE ;
Condition / Disease:
Von Hippel-Lindau
Publication:
Minerva Endocrinology v48.4
Year:
2023
ORPHAcode / other:
ORPHA892
Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out
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;
Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement
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
Clinical Significance of T2-Weighted Sequence Intensity on Magnetic Resonance Imaging in Clinically Non-Functioning Pituitary Adenomas
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;
