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Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Considerations for the design and conduct of pediatric obesity pharmacotherapy clinical trials: Proceedings of expert roundtable meetings
Author(s):
Kelly AS, Bahlke M, Baker JL, de Beaufort C, Belin RM, Fonseca H, Hale PM, Holm J, Hsia DS, Jastreboff AM, Juliusson PB, Murphy M, Pak J, Paul E, Rudolph B, Srivastava G, Tornøe CW, Weghuber D, Fox CK
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ; Copenhagen University Hospital, Rigshospitalet ; Bergen Hospital Trust ;
Condition / Disease:
Melanocortin 4 receptor deficiency
Publication:
Pediatric Obesity v19.11
Year:
2024
ORPHAcode / other:
ORPHA71529
DOI:
10.1111/ijpo.13161
Keywords:
anti‐obesity medication,clinical trials,obesity,pediatric,pharmacotherapy
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene
Author(s):
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S
Affiliated Institution / ERN:
AOUI Verona ; IRCCS Auxologico Italian Institute - Milan ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ;
Condition / Disease:
Silver-Russell Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae730
Year:
2024
ORPHAcode / other:
ORPHA813
DOI:
10.1210/clinem/dgae730
Keywords:
IGF1R,IGF2-PLAG1-HMGA2 axis,(epi)genetic phenotype,Silver-Russell syndrome,body asymmetry,familial cases
Areas of uncertainty on the diagnosis, treatment, and follow-up of hypophosphatemia in adults: an Italian Delphi consensus
Author(s):
Chiodini I, d’Angela D, Falchetti A, Gennari L, Malavolta N, Masi L, Migliore A, Orso M, Polistena B, Rendina D, Scillitani A, Spandonaro F, Vezzoli G, Vescini F, Ambrosio MR, Cairoli E, Camozzi V, Cannavò S, Eller-Vainicher C, Gianninir S, Gianotti L, Giusti A, Merlotti D, Migliaccio S, Minisola S, Montinaro V, Palermo A, Pasquali D, Passeri G, Procopio M, Salcuni AS
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ; San Raffaele hospital - Milan ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Journal of Endocrinological Investigation v48.2 p257-267
Year:
2024
ORPHAcode / other:
ORPHA89936
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
