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Endo-ERN Publications Database
1008 publication(s) found matching the search criteria
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
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
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
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
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
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
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
Standards of care for medical management of acromegaly in pituitary tumor centers of excellence (PTCOE)
Author(s):
Giustina A, Uygur MM, Frara S, Barkan A, Biermasz NR, Chanson P, Freda P, Gadelha M, Haberbosch L, Kaiser UB, Lamberts S, Laws E, Nachtigall LB, Popovic V, Reincke M, van der Lely AJ, Wass JAH, Melmed S, Casanueva FF
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; Leiden University Medical Center ;
Condition / Disease:
Acromegaly
Publication:
Pituitary v27.4 p381-388
Year:
2024
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-024-01397-w
Keywords:
Acromegaly,Cabergoline,Lanreotide,Octreotide,Pasireotide,Pegvisomant
High prevalence of morphometric vertebral fractures opportunistically detected on thoracic radiograms in patients with non-functioning pituitary adenoma
Author(s):
Frara S, Uygur MM, Bolamperti F, di Filippo L, Doga M, Ferrari F, Losa M, Mortini P, Giustina A
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Pituitary adenoma
Publication:
Pituitary v27.4 p370-380
Year:
2024
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-024-01394-z
Keywords:
Hypogonadism,Hypopituitarism,Osteoporosis,Pituitary adenoma,Triiodothyronine,Vertebral fractures
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
Healthcare professionals’ perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and Korea
Author(s):
Rivera Romero O, Chae HW, Faienza MF, Vergani E, Cheon CK, Di Mase R, Frasca F, Lee HS, Giavoli C, Kim J, Klain A, Moon JE, Iezzi ML, Yeh J, Aversa A, Rhie Y, Koledova E
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU Federico II - Naples ;
Condition / Disease:
Combined pituitary hormone deficiencies, genetic forms
Publication:
Frontiers in Endocrinology v15
Year:
2024
ORPHAcode / other:
ORPHA95494
Diagnostic work-up of ACTH-dependent Cushing’s syndrome in the context of CRH shortage: recommendation of a task force from the European Society of Endocrinology
Author(s):
Colao A, Scaroni C, Mezösi E, Saiegh L, Puig-Domingo M, Marques P, Deutschbein T
Affiliated Institution / ERN:
AOU Federico II - Naples ; Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease:
Cushing disease
Publication:
European Journal of Endocrinology v191.1 pR32-R35
Year:
2024
ORPHAcode / other:
ORPHA96253
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023
Author(s):
Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem M, Vatier C, Vigouroux C, Santini F
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; AOU Pisan ; Ulm University Medical Center ; AOU-Bologna ;
Condition / Disease:
Familial partial lipodystrophy Type 1
Publication:
Annales d'Endocrinologie v85.4 p308-316
Year:
2024
ORPHAcode / other:
ORPHA98306
DOI:
10.1016/j.ando.2024.03.002
Keywords:
Acanthosis nigricans,Adipogenesis,Caveolin,Gene therapy,Insulin resistance,Laminopathies,Leptin,Lipodystrophy syndromes,Metreleptin,NAFLD,PLAAT3,PPARγ,Perilipin,Registry,Seipin,Therapeutic education,VLDL1 secretion
EANM position on positron emission tomography in suspected functional pituitary neuroendocrine tumours
Author(s):
Van Weehaeghe D, Lapauw B, Fraioli F, Cecchin D, Verger A, Guedj E, Albert NL, Brendel M, Yakushev I, Barthel H, Traub-Weidinger T, Tolboom N, Giessen EVD
Affiliated Institution / ERN:
Ghent University Hospital ; Klinikum der Universität München ; University Medical Center Utrecht ; Amsterdam UMC ;
Condition / Disease:
Pituitary adenoma
Publication:
European Journal of Nuclear Medicine and Molecular Imaging v51.8 p2367-2370
Year:
2024
ORPHAcode / other:
ORPHA99408
Radioligand Therapy in Patients with Lung Neuroendocrine Tumors: A Systematic Review on Efficacy and Safety
Author(s):
Malandrino P, Feola T, Mikovic N, Cannavale G, Molfetta SD, Altieri B, Mancini C, Ferolla P, Colao A, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ; University Hospital Würzburg ;
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Seminars in Nuclear Medicine v54.4 p570-580
Year:
2024
ORPHAcode / other:
ORPHA652
How nuclear imaging changed parathyroid surgical strategies through time
Author(s):
Schouw HM, Noltes ME, Brouwers AH, Nilsson I, Zedenius J, 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 v51.8 p2165-2171
Year:
2024
ORPHAcode / other:
ORPHA146
Body Mass Index Distributions and Obesity Prevalence in a Transgender Youth Cohort – A Retrospective Analysis
Author(s):
Knaus S, Steininger J, Klinger D, Riedl S
Affiliated Institution / ERN:
Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ;
Condition / Disease:
Transgender, female to male
Publication:
Journal of Adolescent Health v75.1 p127-132
Year:
2024
ORPHAcode / other:
ICD-10 F64
DOI:
10.1016/j.jadohealth.2024.03.005
Keywords:
Adolescent,Auxology,Eating behaviours,Gender-affirming healthcare,Health behaviours,Obesity,Transgender
High Prevalence of Hypercalcitoninemia in a Large Cohort of Adult and Pediatric Patients With PTH Resistance Syndromes
Author(s):
Cremaschi A, Del Sindaco G, Pagnano A, Dolci A, Berkenou J, Rothenbuhler A, Contarino A, Ferrante E, Arosio M, Giannetta E, Linglart A, Mantovani G
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Hôpital Bicêtre ;
Condition / Disease:
Pseudohypoparathyroidism, all known genes excluded (iPPSDx)
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae416
Year:
2024
ORPHAcode / other:
ORPHA97593
DOI:
10.1210/clinem/dgae416
Keywords:
C-cell hyperplasia,calcitonin,hormonal resistance,pseudohypoparathyroidism
Safety and efficacy of nintedanib as second-line therapy for patients with differentiated or medullary thyroid cancer progressing after first-line therapy. A randomized phase II study of the EORTC Endocrine Task Force (protocol 1209-EnTF)
Author(s):
Leboulleux S, Kapiteijn E, Litière S, Schöffski P, Godbert Y, Rodien P, Jarzab B, Salvatore D, Zanetta S, Capdevila J, Bastholt L, De La Fouchardiere C, Lalami Y, Bardet S, Cornélis F, Dedecjus M, Links T, Sents W, Schlumberger M, Locati DL, Newbold K
Affiliated Institution / ERN:
University Medical Center Groningen ; Leiden University Medical Center ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Frontiers in Endocrinology v15
Year:
2024
ORPHAcode / other:
ORPHA146
DOI:
10.3389/fendo.2024.1403687
Keywords:
MTC,RAIR DTC,nintedanib,phase II trial,triple-angiokinase inhibitor
Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche
Author(s):
Cattoni A, Russo G, Capitoli G, Rodari G, Nicolosi ML, Molinari S, Tondelli D, Pelliccia C, Radaelli S, Arosio AML, Fontana K, Tattesi G, Passoni P, Boneschi A, Giavoli C, Meroni SLC, Stancampiano MR, Garuti E, Biondi A, Balduzzi A, Bizzarri C
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; San Raffaele hospital - Milan ;
Condition / Disease:
Pituitary adenoma
Publication:
Frontiers in Endocrinology v15
Year:
2024
ORPHAcode / other:
ORPHA99408
DOI:
10.3389/fendo.2024.1417281
Keywords:
GnRH analogues,age of menarche,pelvic ultrasound,precocious puberty,uterine volume
Childhood craniopharyngioma: a retrospective study of children followed in Hôpital Universitaire de Bruxelles
Author(s):
Magerman C, Boros E, Preziosi M, Lhoir S, Gilis N, De Witte O, Heinrichs C, Salmon I, Fricx C, Vermeulen F, Lebrun L, Brachet C, Rodesch M
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease:
Craniopharyngioma
Publication:
Frontiers in Endocrinology v15
Year:
2024
ORPHAcode / other:
ORPHA54595
DOI:
10.3389/fendo.2024.1297132
Keywords:
childhood craniopharyngioma,endocrine disorders,hypothalamic obesity,neurosurgery,radiotherapy,visual disorders
Natural history and surgical outcomes of Rathke’s cleft cysts: a Spanish multicenter study
Author(s):
Menéndez-Torre EL, Gutiérrez-Hurtado A, Ollero MD, Irigaray A, Martín P, Parra P, González-Molero I, Araujo-Castro M, Idrobo C, Moure MD, Molina AR, Biagetti B, Iglesias P, Paja M, Villar-Taibo R, Pena A, Vicente A, Guerrero-Pérez F, Cordido F, Aulinas A, Mateu M, Soto A
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ; Complejo Hospitalario Regional Virgen del Rocio ;
Condition / Disease:
Non-functioning pituitary adenoma
Publication:
Frontiers in Endocrinology v15
Year:
2024
ORPHAcode / other:
ORPHA91349
DOI:
10.3389/fendo.2024.1413810
Keywords:
Rathke’s cleft cyst,cyst size,pituitary,transsphenoidal surgery,visual impairment
Correction to: The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
Author(s):
Baroncelli GI, Carlucci G, Freri E, Giuca MR, Guarnieri V, Navarra G, Toschi B, Mora S
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; AOU Pisan ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Journal of Endocrinological Investigation v47.12 p3137-3137
Year:
2024
ORPHAcode / other:
ORPHA89936
Clinical practice guidelines for the care of girls and women with Turner syndrome
Author(s):
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA, Alvarez-Nava F, Avdic HB, Balle CM, Bamba V, Bedei I, Bonnard Ã, Brickman WJ, Brown NM, Chernausek S, Cobbold J, Corathers SD, Corpechot C, Crenshaw ML, Davies M, Deeb A, Dessens A, Dowlut-McElroy T, Elliott V, Fadoju D, Fechner PY, Geffner M, Gitomer S, de Groote K, Hewitt J, Ho C, Hutaff-Lee C, Isojima T, Johannsen EB, Kawai M, Keselman A, Knickmeyer RC, Kremen J, Kristrøm B, Kruszka P, Law J, Lin AE, Loechner K, Mauras N, Matthews D, Mikkelborg T, Mortensen KH, Nahata L, Norman M, Patel SR, Quigley C, Ridder LO, Santen RJ, Sheanon N, Smyth A, Turner H, Verlinde F, Viuff MH, Wasniewska M, van der Weijde B, Woelfle J, Wolstencroft J, Backeljauw PF
Affiliated Institution / ERN:
Aarhus University Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
45,X
Publication:
European Journal of Endocrinology v190.6 pG53-G151
Year:
2024
ORPHAcode / other:
ORPHA881
DOI:
10.1093/ejendo/lvae050
Keywords:
Turner syndrome,cardiovascular health,co-morbidity,hypogonadism,infertility,neurocognition,transition
Effectiveness of combined first-line medical treatment in acromegaly with prolactin cosecretion
Author(s):
Biagetti B, Araujo-Castro M, Torre EM, Novoa-Testa I, Cordido F, Corrales EP, Berrocal VR, Guerrero-Pérez F, Vicente A, Percovich JC, Centeno RG, González L, García MDO, Echarri AI, Rodríguez MDM, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Valderrama PB, Tenorio-Jiménez C, Galiana PA, Moreno EV, Molero IG, Iglesias P, Blanco C, De Lara FV, de Miguel P, Mezquita EL, Hanzu F, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Roca Q, Gracia P, Córdova JMR, Aviles M, Asensio-Wandosel D, Sampedro M, Cámara R, Paja M, Ruz-Caracuel I, Fajardo-Montañana C, Asanza EC, Martinez-Saez E, Marazuela M, Puig-Domingo M
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ; Complejo Hospitalario Regional Virgen del Rocio ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v190.6 p458-466
Year:
2024
ORPHAcode / other:
ORPHA963
DOI:
10.1093/ejendo/lvae053
Keywords:
acromegaly,cabergoline,dopamine agonist,first-line treatment,prolactin,somatostatin receptor ligand
Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study
Author(s):
Sampedro-Nuñez M, Herrera-Martínez AD, Ibáñez-Costa A, Rivero-Cortés E, Venegas E, Robledo M, Martínez-Hernández R, García-Martínez A, Gil J, Jordà M, López-Fernández J, Gavilán I, Maraver S, Marqués-Pamies M, Cámara R, Fajardo-Montañana C, Valassi E, Dios E, Aulinas A, Biagetti B, Álvarez Escola C, Araujo-Castro M, Blanco C, Paz dM, Villar-Taibo R, Álvarez CV, Gaztambide S, Webb SM, Castaño L, Bernabéu I, Picó A, Gálvez M, Soto-Moreno A, Puig-Domingo M, Castaño JP, Marazuela M, Luque RM, Adrados M, Flores PM, Leví AMR, Serrano-Somavilla A, Díez JJ, Villanueva MG, Iglesias P, Berrocal VR, Gutiérrez EA, Bances L, Calvo Gracia FL, Comunas F, López IQ, Hernando CA, Luis JMP, Centeno RG, Iza B, López CP, Zamarrón ÃP, Alén JF, Gutiérrez MC, Sansinenea IP, Otero Ã, Córdova JMR, Sousa P, Belinchón J, Herguido MJ, de Lope ÃR, Delgado AV, Muñoz F, Santos A, Asla Q, Servat AS, Torres A, Vidal N, Villabona C, Sesmilo G, Cambra GC, Obiols G, Carrato C, Salinas I, Hostalot C, Blanco A, Zabala R, Simón I, Ibáñez J, Fernández HG, Serra G, Riesgo P, Simal-Julian JA, Lamas C, Sandoval H, Abarca J, Mendoza NA, Ortiga RS, Monjas I, Font TP, Troncoso IA, Catalina PF, San MartÃn RMÃ, Ballesteros Pomar MD, Romero SP, Rodríguez EF, García-Allut A, Serramito R, Prieto A, Bellas LC, Pardo JIV, Expósito MRA, Moreno-Moreno P, Padillo-Cuenca JC, Vázquez-Borrego MC, Fuentes-Fayos AC, Leal-Cerro A, Japón MÃ, Rivera NG, Arnés JAG, González-Molero I, Maraver-Selfa S, Vela ET, Avilés-Pérez MD, Tenorio-Jiménez C, Carazo AM, García JGO
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Hospital Universitario Cruces ; Complejo Hospitalario Regional Virgen del Rocio ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v190.6 p421-433
Year:
2024
ORPHAcode / other:
ORPHA963
DOI:
10.1093/ejendo/lvae045
Keywords:
REMAH study,combined molecular and clinical biomarkers,curation,pituitary tumor,transsphenoidal surgery
Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
Author(s):
Prawitt D, Eggermann T
Affiliated Institution / ERN:
University Hospital Aachen ; University Medical Center Mainz ;
Condition / Disease:
Beckwith-Wiedemann Syndrome
Publication:
Frontiers in Genetics v15
Year:
2024
ORPHAcode / other:
ORPHA116
DOI:
10.3389/fgene.2024.1382371
Keywords:
diagnostics,long read sequencing,massive parallel sequencing (MPS),mosaicism,omics,overgrowth
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:
Italian Guidelines for the Management of Sporadic Primary Hyperparathyroidism
Author(s):
Vescini F, Borretta G, Chiodini I, Boniardi M, Carotti M, Castellano E, Cipriani C, Eller-Vainicher C, Giannini S, Iacobone M, Salcuni AS, Saponaro F, Spiezia S, Versari A, Zavatta G, Mitrova Z, Saulle R, Vecchi S, Antonini D, Basile M, Giovanazzi A, Paoletta A, Papini E, Persichetti A, Samperi I, Scoppola A, Novizio R, Calò PG, Cetani F, Cianferotti L, Corbetta S, De Rimini ML, Falchetti A, Iannetti G, Laureti S, Lombardi CP, Madeo B, Marcocci C, Mazzaferro S, Miele V, Minisola S, Palermo A, Pepe J, Scillitani A, Tonzar L, Grimaldi F, Cozzi R, Attanasio R
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; IRCCS Auxologico Italian Institute - Milan ; University Hospital of Padova ; AOU Pisan ; AOU-Bologna ; University Hospital Florence ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Hyperparathyroidism
Publication:
Endocrine, Metabolic & Immune Disorders - Drug Targets v24.8 p991-1006
Year:
2024
ORPHAcode / other:
ORPHA181408
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;
