Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Editorial: Thyroid nodules and tumors in childhood
Author(s):
de Sanctis L, Wasniewska M, Vigone MC
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Thyroid cancer
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.3389/fendo.2023.1303749
Keywords:
ACR-TIRADS,EU-TIRADS,FNAB,del22q11 syndrome,phosphatase and tensin homolog deleted on chromosome 10 (PTEN),thyroid cancer,thyroid nodules,thyroiditis
Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism
Author(s):
Del Sindaco G, Berkenou J, Pagnano A, Rothenbuhler A, Arosio M, Mantovani G, Linglart A
Affiliated Institution / ERN:
Hôpital Bicêtre ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Inactivating PTH,PTHrP Signaling Disorders,Pseudohypoparathyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.11 p2961-2969
Year:
2023
ORPHAcode / other:
ORPHA97593
DOI:
10.1210/clinem/dgad236
Keywords:
ectopic ossifications,infancy,neonatal complications,newborns,pseudohypoparathyroidism
Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH)
Author(s):
Hoyer-Kuhn H, Eckert AJ, Binder G, Bonfig W, Dübbers A, Riedl S, Woelfle J, Dörr HG, Holl RW
Affiliated Institution / ERN:
Universitätsklinikum Tübingen ; Klinikum Wels Grieskirchen ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.11 pe1199-e1204
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgad307
Keywords:
CYP21A2,congenital adrenal hyperplasia,near adult height,newborn screening
Comorbidities in mild autonomous cortisol secretion and the effect of treatment: systematic review and meta-analysis
Author(s):
Pelsma ICM, Fassnacht M, Tsagarakis S, Terzolo M, Tabarin A, Sahdev A, Newell-Price J, Marina L, Lorenz K, Bancos I, Arlt W, Dekkers OM
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Cushing syndrome
Publication:
European Journal of Endocrinology v189.4 pS88-S101
Year:
2023
ORPHAcode / other:
ORPHA647758; ORPHA189427; ORPHA314749;
DOI:
10.1093/ejendo/lvad134
Keywords:
adrenal adenoma,comorbidities,cortisol,mild autonomous cortisol secretion,systematic review
Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study
Author(s):
Schröder MAM, Neacşu M, Adriaansen BPH, Sweep FCGJ, Ahmed SF, Ali SR, Bachega TASS, Baronio F, Birkebæk NH, de Bruin C, Bonfig W, Bryce J, Clemente M, Cools M, Elsedfy H, Globa E, Guran T, Güven A, Amr NH, Janus D, Taube NL, Markosyan R, Miranda M, PoyrazoÄlu Å, Rees A, Salerno M, Stancampiano MR, Vieites A, de Vries L, Yavas Abali Z, Span PN, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Klinikum Wels Grieskirchen ; Aarhus University Hospital ; AOU Federico II - Naples ; Radboud University Medical Centre Nijmegen ; AOU-Bologna ;
Condition / Disease:
Congenital adrenal hyperplasia
Publication:
European Journal of Endocrinology v189.4 p460-468
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1093/ejendo/lvad143
Keywords:
congenital adrenal hyperplasia,diagnosis,early childhood,testicular adrenal rest tumors
Therapeutic Management and Long-Term Outcome of Hyperthyroidism in Patients with Antithyroid-Induced Agranulocytosis: A Retrospective, Multicenter Study
Author(s):
García Gómez C, Navarro E, Alcázar V, López-Guzmán A, Arrieta F, Anda E, Biagetti B, Guerrero-Pérez F, Villabona C, de Assín Valverde AR, Lamas C, Lecumberri B, Rosado Sierra JA, Sastre J, Díez JJ, Iglesias P
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Antithyroid-Induced Agranulocytosis, Hyperthyroidism
Publication:
Journal of Clinical Medicine v12.20 p6556
Year:
2023
ORPHAcode / other:
DOI:
10.3390/jcm12206556
Keywords:
antithyroid drug-induced agranulocytosis (AIA),carbimazole (CBZ),methimazole (MMI),propylthiouracil (PTU)
Gender-related differences in patients with carcinoid syndrome: new insights from an Italian multicenter cohort study
Author(s):
Ruggeri RM, Altieri B, Razzore P, Retta F, Sperti E, Scotto G, Brizzi MP, Zumstein L, Pia A, Lania A, Lavezzi E, Nappo G, Laffi A, Albertelli M, Boschetti M, Hasballa I, Veresani A, Prinzi N, Pusceddu S, Oldani S, Nichetti F, Modica R, Minotta R, Liccardi A, Cannavale G, Grossrubatscher EM, Tarsitano MG, Zamponi V, Zatelli MC, Zanata I, Mazzilli R, Appetecchia M, Davì MV, Guarnotta V, Giannetta E, La Salvia A, Fanciulli G, Malandrino P, Isidori AM, Colao A, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ; AOU polyclinic "G.Martino" of Messina ; IRCCS Ospedale Policlinico San Martino – Genova ; AOU Policlinico Umberto I - Rome ; AOU - Ferrara ;
Condition / Disease:
Hereditary pheochromocytoma-paraganglioma
Publication:
Journal of Endocrinological Investigation v47.4 p959-971
Year:
2023
ORPHAcode / other:
ORPHA29072
DOI:
10.1007/s40618-023-02213-1
Keywords:
Carcinoid syndrome,Gender,Gender medicine,Neuroendocrine neoplasm,Neuroendocrine tumors,Prognosis,Sex
Long-term efficacy and safety of subcutaneous pasireotide alone or in combination with cabergoline in Cushing’s disease
Author(s):
Feelders RA, Fleseriu M, Kadioglu P, Bex M, González-Devia D, Boguszewski CL, Yavuz DG, Patino H, Pedroncelli AM, Maamari R, Chattopadhyay A, Biller BMK, Pivonello R
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Cushing's disease
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA96253
DOI:
10.3389/fendo.2023.1165681
Keywords:
Cushing’s disease,cabergoline,hypercortisolism,pasireotide,somatostatin
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
Author(s):
Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J, Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim L, Männistö JME, Massey R, Mclennan N, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghaven S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar S, Monaco GSF, Scholtens DM, Selvin E, Sheu WH, Speake C, Stanislawski MA, Steenackers N, Steck AK, Stefan N, Støy J, Taylor R, Tye SC, Ukke GG, Urazbayeva M, Van der Schueren B, Vatier C, Wentworth JM, Hannah W, White SL, Yu G, Zhang Y, Zhou SJ, Beltrand J, Polak M, de Franco E, Flanagan SE, Maloney KA, McGovern A, Nakabuye M, Njølstad PR, Pomares-Millan H, Provenzano M, Zhang C, Zhu Y, Auh S, de Souza R, Fawcett AJ, Gruber C, Mekonnen EG, Mixter E, Sherifali D, Eckel RH, Nolan JJ, Philipson LH, Brown RJ, Billings LK, Boyle K, Costacou T, Dennis JM, Florez JC, Gloyn AL, Gomez MF, Gottlieb PA, Greeley SAW, Griffin K, Hattersley AT, Hirsch IB, Hivert M, Hood KK, Josefson JL, Kwak SH, Laffel LM, Lim SS, Loos RJF, Ma RCW, Mathieu C, Mathioudakis N, Meigs JB, Misra S, Mohan V, Murphy R, Oram R, Owen KR, Ozanne SE, Pearson ER, Perng W, Pollin TI, Pop-Busui R, Pratley RE, Redman LM, Redondo MJ, Reynolds RM, Semple RK, Sherr JL, Sims EK, Sweeting A, Tuomi T, Udler MS, Vesco KK, Vilsbøll T, Wagner R, Rich SS, Franks PW, Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
monogenic diabetes
Publication:
Communications Medicine v3.1
Year:
2023
ORPHAcode / other:
ORPHA552
The highly and perpetually upregulated thyroglobulin gene is a hallmark of functional thyrocytes
Author(s):
Ullrich S, Leidescher S, Feodorova Y, Thanisch K, Fini J, Kaspers B, Weber F, Markova B, Führer D, Romitti M, Krebs S, Blum H, Leonhardt H, Costagliola S, Heuer H, Solovei I
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
thyroglobulin gene
Publication:
Frontiers in Cell and Developmental Biology v11
Year:
2023
ORPHAcode / other:
DOI:
10.3389/fcell.2023.1265407
Keywords:
gene upregulation,thyroglobulin gene,thyroid hormones,transcription,transcription loop
Application of calcium-to-phosphorus (Ca/P) ratio in the diagnosis of pseudohypoparathyroidism: another piece in the puzzle of diagnosis of Ca-P metabolism disorders
Author(s):
De Vincentis S, Del Sindaco G, Pagnano A, Brigante G, Moretti A, Zirilli L, Rochira V, Simoni M, Mantovani G, Madeo B
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA97593
DOI:
10.3389/fendo.2023.1268704
Keywords:
hyperphosphatemia,hypocalcemia,hypoparathyroidism,mineral disorders,parathyroid dysfunctions
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
Author(s):
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim L, Männistö JME, Massey R, Mclennan N, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar S, Monaco GSF, Scholtens DM, Selvin E, Sheu WH, Speake C, Stanislawski MA, Steenackers N, Steck AK, Stefan N, Støy J, Taylor R, Tye SC, Ukke GG, Urazbayeva M, Van der Schueren B, Vatier C, Wentworth JM, Hannah W, White SL, Yu G, Zhang Y, Zhou SJ, Beltrand J, Polak M, Aukrust I, de Franco E, Flanagan SE, Maloney KA, McGovern A, Molnes J, Nakabuye M, Njølstad PR, Pomares-Millan H, Provenzano M, Saint-Martin C, Zhang C, Zhu Y, Auh S, de Souza R, Fawcett AJ, Gruber C, Mekonnen EG, Mixter E, Sherifali D, Eckel RH, Nolan JJ, Philipson LH, Brown RJ, Billings LK, Boyle K, Costacou T, Dennis JM, Florez JC, Gloyn AL, Gomez MF, Gottlieb PA, Greeley SAW, Griffin K, Hattersley AT, Hirsch IB, Hivert M, Hood KK, Josefson JL, Kwak SH, Laffel LM, Lim SS, Loos RJF, Ma RCW, Mathieu C, Mathioudakis N, Meigs JB, Misra S, Mohan V, Murphy R, Oram R, Owen KR, Ozanne SE, Pearson ER, Perng W, Pollin TI, Pop-Busui R, Pratley RE, Redman LM, Redondo MJ, Reynolds RM, Semple RK, Sherr JL, Sims EK, Sweeting A, Tuomi T, Udler MS, Vesco KK, Vilsbøll T, Wagner R, Rich SS, Franks PW
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
Precision diabetes medicine
Publication:
Nature Medicine v29.10 p2438-2457
Year:
2023
ORPHAcode / other:
ORPHA552
The effect of testosterone treatment on bone mineral density in Klinefelter syndrome: A retrospective cohort study
Author(s):
Willems S, David K, Decallonne B, Marcq P, Antonio L, Vanderschueren D
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter syndrome
Publication:
Andrology v11.7 p1295-1302
Year:
2023
ORPHAcode / other:
ORPHA484
DOI:
10.1111/andr.13411
Keywords:
Klinefelter syndrome,bone mineral density,dual-energy X-ray absorptiometry,hypogonadism,testosterone replacement therapy
Magnetic resonance imaging as a predictor of therapeutic response to pasireotide in acromegaly
Author(s):
Ruiz S, Gil J, Biagetti B, Venegas E, Cámara R, Garcia‐Centeno R, Gálvez M, Picó A, Maraver S, González I, Abellán P, Trincado P, Herrera M, Olvera P, Xifra G, Bernabeu I, Serra‐Soler G, Azriel S, García L, Carvalho D, Jordà M, Valassi E, Puig J, Puig‐Domingo M
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ; São João University Hospital(CHUSJ) ;
Condition / Disease:
Acromegaly
Publication:
Clinical Endocrinology v99.4 p378-385
Year:
2023
ORPHAcode / other:
ORPHA963; ORPHA314769
DOI:
10.1111/cen.14946
Keywords:
IGF-1,T2-weighted signal intensity,acromegaly,magnetic resonance imaging,pasireotide,somatostatin receptor ligands
Predictors of surgical complications in boys with hypospadias: data from an international registry
Author(s):
Scougall K, Bryce J, Baronio F, Boal RL, Castera JR, Castro S, Cheetham T, Costa EC, Darendeliler F, Davies JH, Dirlewanger M, Gazdagh G, Globa E, Guerra-Junior G, Guran T, Herrmann G, Holterhus P, Akgül AK, Markosyan R, McElreavey K, Miranda ML, Nordenstrom A, O’Toole S, Poyrazoglu S, Russo G, Schwitzgebel V, Stancampiano M, Steigert M, Ahmed SF, Lucas-Herald AK
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Hypospadias
Publication:
World Journal of Pediatric Surgery v6.4 pe000599
Year:
2023
ORPHAcode / other:
ORPHA95706
Giant prolactinomas, a detailed analysis of 196 adult cases
Author(s):
Billion L, Verleye A, Block CD, Heyning PVd, Herdt CD
Affiliated Institution / ERN:
UZ Antwerpen ;
Condition / Disease:
Prolactinoma
Publication:
Pituitary v26.5 p529-537
Year:
2023
ORPHAcode / other:
ORPHA2965
DOI:
10.1007/s11102-023-01337-0
Keywords:
Dopamine agonists,Giant prolactinoma,Hyperprolactinemia,Prolactin,Prolactinoma
Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study
Author(s):
Terzolo M, Fassnacht M, Perotti P, Libé R, Kastelan D, Lacroix A, Arlt W, Haak HR, Loli P, Decoudier B, Lasolle H, Quinkler M, Haissaguerre M, Chabre O, Caron P, Stigliano A, Giordano R, Zatelli MC, Bancos I, Fragoso MCBV, Canu L, Luconi M, Puglisi S, Basile V, Reimondo G, Kroiss M, Megerle F, Hahner S, Kimpel O, Dusek T, Nölting S, Bourdeau I, Chortis V, Ettaieb MH, Cosentini D, Grisanti S, Baudin E, Berchialla P, Bovis F, Sormani MP, Bruzzi P, Beuschlein F, Bertherat J, Berruti A
Affiliated Institution / ERN:
AOU - Ferrara ; University Hospital Würzburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Maastricht University Medical Center+ ; Hospices Civils de Lyon ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
The Lancet Diabetes & Endocrinology v11.10 p720-730
Year:
2023
ORPHAcode / other:
ORPHA1501
Subcentimetric papillary thyroid carcinoma with extensive lymph node and brain metastasis: case report and review of literature
Author(s):
Amado A, Teixeira E, Canberk S, Macedo S, Castro B, Pereira H, Varanda J, Graça S, Tavares A, Soares C, Oliveira MJ, Oliveira M, Soares P, Sobrinho Simões M, Póvoa AA
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
papillary thyroid carcinoma
Publication:
Endocrinology, Diabetes & Metabolism Case Reports v2023.4
Year:
2023
ORPHAcode / other:
ORPHA146
Unravelling leptin variants: advancing precision medicine in obesity
Author(s):
Dubern B, Clément K
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
obesity associated with defect in leptin/melanocortin pathway
Publication:
Nature Reviews Endocrinology v19.10 p562-563
Year:
2023
ORPHAcode / other:
ORPHA77828
Recent data on iodine intake in Croatian schoolchildren: results of 2014–2019 survey
Author(s):
Filipan D, Vidranski V, Bosak Butković M, Blažeković I, Romić M, Mihaljević I, Bogović Crnčić T, Kusić Z, Šamija I, Fröbe A, Jukić T
Affiliated Institution / ERN:
Sestre milosrdnice University Hospital Center ;
Condition / Disease:
Thyroid volume iodine intake hypothyroidism
Publication:
European Journal of Clinical Nutrition v77.10 p959-965
Year:
2023
ORPHAcode / other:
Endocortical Trabecularization in Acromegaly: The Cause for the Paradoxically Increased Vertebral Fracture Risk?
Author(s):
Heck A, Godang K, Lekva T, Markussen KN, De Vincentis S, Ueland T, Bollerslev J
Affiliated Institution / ERN:
AOU - Modena ; Oslo University Hospital ;
Condition / Disease:
Acromegaly
Publication:
JBMR Plus v7.10
Year:
2023
ORPHAcode / other:
ORPHA963
Pilot study to define criteria for Pituitary Tumors Centers of Excellence (PTCOE): results of an audit of leading international centers
Author(s):
Giustina A, Uygur MM, Frara S, Barkan A, Biermasz NR, Chanson P, Freda P, Gadelha M, Kaiser UB, Lamberts S, Laws E, Nachtigall LB, Popovic V, Reincke M, Strasburger C, van der Lely AJ, Wass JAH, Melmed S, Casanueva FF
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
Pituitary adenoma
Publication:
Pituitary v26.5 p583-596
Year:
2023
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-023-01345-0
Keywords:
Acromegaly,Centers of Excellence,Criteria,Cushing’s disease,Medical treatment,Neurosurgery,Pituitary tumors,Prolactinoma
Giant prolactinomas, a detailed analysis of 196 adult cases
Author(s):
Lisa B, Arno V, Christophe DB, Heyning Paul Vd, Carlien DH
Affiliated Institution / ERN:
UZ Antwerpen ;
Condition / Disease:
Prolactinoma
Publication:
Pituitary v26.5 p529-537
Year:
2023
ORPHAcode / other:
ORPHA2965
DOI:
10.1007/s11102-023-01337-0
Keywords:
Dopamine agonists,Giant prolactinoma,Hyperprolactinemia,Prolactin,Prolactinoma
Testosterone Restores Body Composition, Bone Mass, and Bone Strength Following Early Puberty Suppression in a Mouse Model Mimicking the Clinical Strategy in Trans Boys
Author(s):
Dubois V, Ciancia S, Doms S, El Kharraz S, Sommers V, Kim NR, David K, Van Dijck J, Valle-Tenney R, Maes C, Antonio L, Decallonne B, Carmeliet G, Claessens F, Cools M, Vanderschueren D
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Gender dysphoria
Publication:
Journal of Bone and Mineral Research v38.10 p1497-1508
Year:
2023
ORPHAcode / other:
HA61
Characterisation and clinical outcomes in children and adolescents with diabetes according to newly defined subgroups: a cohort study from the DPV registry
Author(s):
Warncke K, Eckert A, Bonifacio E, Achenbach P, Kordonouri O, Meissner T, Ohlenschläger U, Bonfig W, Ziegler A, Holl RW
Affiliated Institution / ERN:
Klinikum Wels Grieskirchen ;
Condition / Disease:
diabetes type 1
Publication:
eClinicalMedicine v64 p102208
Year:
2023
ORPHAcode / other:
DOI:
10.1016/j.eclinm.2023.102208
Keywords:
Children,Complications,Diabetes,Personalised medicine,Subgroups
Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study
Author(s):
Terzolo M, Fassnacht M, Perotti P, Libé R, Kastelan D, Lacroix A, Arlt W, Haak HR, Loli P, Decoudier B, Lasolle H, Quinkler M, Haissaguerre M, Chabre O, Caron P, Stigliano A, Giordano R, Zatelli MC, Bancos I, Fragoso MCBV, Canu L, Luconi M, Puglisi S, Basile V, Reimondo G, Kroiss M, Megerle F, Hahner S, Kimpel O, Dusek T, Nölting S, Bourdeau I, Chortis V, Ettaieb MH, Cosentini D, Grisanti S, Baudin E, Berchialla P, Bovis F, Sormani MP, Bruzzi P, Beuschlein F, Bertherat J, Berruti A
Affiliated Institution / ERN:
AO City of Health and Science - Turin ;
Condition / Disease:
Adrenocortical carcinomas
Publication:
The Lancet Diabetes & Endocrinology v11.10 p720-730
Year:
2023
ORPHAcode / other:
ORPHA1501
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Author(s):
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, Wasilewska A, Longo G, Espinosa L, Miglinas M, Stroescu R, Huseynova S, Stabouli S, Sathyanarayana V, Andronesi AG, Hahn D, Sharma D, Petrosyan E, Frangou E, Mohebbi N, Dinçel NT, Braconnier P, Gilbert RD, Sambo A, Tasic V, Henne T, Bockenhauer D
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Nephrology Dialysis Transplantation v38.10 p2120-2130
Year:
2023
ORPHAcode / other:
DOI:
10.1093/ndt/gfaa243
Keywords:
AQP2,AVPR2,chronic kidney disease,flow uropathy,nephrogenic diabetes insipidus
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Author(s):
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
XLH
Publication:
Orphanet Journal of Rare Diseases v18.1
Year:
2023
ORPHAcode / other:
ORPHA89936
DOI:
10.1186/s13023-023-02882-4
Keywords:
Fibroblast growth factor 23 (FGF23),Hypophosphatemic rickets,International,Natural history,Osteomalacia,PHEX mutation,Patient registry,Rare disease,X-linked hypophosphatemia (XLH)
SARS-CoV-2 Infection and Development of Islet Autoimmunity in Early Childhood
Author(s):
Lugar M, Eugster A, Achenbach P, von dem Berge T, Berner R, Besser REJ, Casteels K, Elding Larsson H, Gemulla G, Kordonouri O, Lindner A, Lundgren M, Müller D, Oltarzewski M, Rochtus A, Scholz M, Szypowska A, Todd JA, Ziegler A, Bonifacio E, Gündert M, Haupt F, Arnolds S, Blasius K, Friedl N, Gezginci C, Göppel G, Heigermoser M, Hergl M, Höfelschweiger B, Jolink M, Kisfügedi K, Klein N, Matzke C, Niewöhner R, Schütte-Borkovec K, Weiß A, Zapardiel Gonzalo JM, Schmidt S, Vurucu M, Sarcletti K, Sporreiter M, Jacobson S, Janssen C, Morobé H, Vrancken B, Van den Driessche N, Van Poel G, Van Heyste R, Houben J, Vanhuyse V, Arabi S, Barbknecht L, Dietz S, Ehrlich F, Gholizadeh Z, Hoffmann R, Hommel A, Lange F, Loff A, Morgenstern R, Schille A, Sigg M, Weigelt M, Weise A, Zubizarreta N, Danne T, Galuschka L, Kruse C, Landsberg S, Lange K, Marquardt E, Reschke F, Roloff F, Weiskorn J, Polier M, Schmidt B, Bunk M, Hofelich A, Huber E, Kaiser M, Käßl A, Marcus B, Munzinger A, Ramminger C, Reinmüller F, Vollmuth V, Winkler C, Dybkowska S, Groele L, Owczarek D, Popko K, Cieloch A, Dzygalo K, Górska E, Mroczek A, Zduńczyk B, Zych A, Czerwińska W, Dziedzic N, Samuelsson H, Alström Mortin S, Bennet R, Brundin C, Dahlberg S, Fransson L, Jönsson I, Nenonen H, Ramelius A, Törn C, Ulvenhag U, Lindström M, Rhamati K, Goldman Tsubarah M, Salami F, Hawkins S, Mujadidi YF, Smith I, Roseman F, Robinson H, Taj N, Whelan C, Wishlade T, Vernon S, Ratcliffe H
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ;
Condition / Disease:
Diabetes mellitus type 1
Publication:
JAMA v330.12 p1151
Year:
2023
ORPHAcode / other:
ORPHA181371
First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria
Author(s):
Elkina SM, Halvadzhiyan IB, Popova GT, Avdjieva-Tzavella DM, Stefanova E, Kaleva NN, Stoeva IH, Petrova CK, Iotova VM
Affiliated Institution / ERN:
USHATE “ACAD IVAN Penchev” ;
Condition / Disease:
Growth disorders
Publication:
Journal of Pediatric Endocrinology and Metabolism v36.9 p832-841
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957