Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Women’s perceptions of femininity after craniopharyngioma: a qualitative study
Author(s):
Eydoux R, Castinetti F, Authier M, Vialle M, Albarel F, Brue T, Courbiere B
Affiliated Institution / ERN:
Condition / Disease:
Craniopharyngioma
Publication:
Clinical Endocrinology v94.5 p880-887
Year:
2021
ORPHAcode / other:
ORPHA54595
DOI:
10.1111/cen.14378
Keywords:
Craniopharyngioma,body image,femininity,infertility,intimacy,qualitative study,sexuality
Nodal metastatic load in papillary thyroid carcinoma. Morphological and molecular analysis with one-step nucleic acid amplification on more than 550 lymph nodes
Author(s):
Iglesias C, González O, Temprana-Salvador J, García-Burillo A, Caubet E, Ramón y Cajal S, Zafon C
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrinología, Diabetes y Nutrición v68.5 p346-353
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1016/j.endinu.2020.04.004
Keywords:
Carcinoma de tiroides,Linfadenectomía,Lymph node metastasis,Lymphadenectomy,Metástasis linfática,OSNA,Thyroid carcinoma
Gender incongruence and gender dysphoria in childhood and adolescence—current insights in diagnostics, management, and follow-up
Author(s):
Claahsen - van der Grinten H, Verhaak C, Steensma T, Middelberg T, Roeffen J, Klink D
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Amsterdam UMC ; University Medical Center Groningen ; Ghent University Hospital ;
Condition / Disease:
Gender dysphoria
Publication:
European Journal of Pediatrics v180.5 p1349-1357
Year:
2021
ORPHAcode / other:
F64
DOI:
10.1007/s00431-020-03906-y
Keywords:
Gender dysphoria,Gender incongruence,Gender-affirming treatment,Pubertal suppression,Transgender care
In vitro effects of the endocrine disruptor p,p′DDT on human choriogonadotropin/luteinizing hormone receptor signalling
Author(s):
Munier M, Ayoub M, Suteau V, Gourdin L, Henrion D, Reiter E, Rodien P
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Archives of Toxicology v95.5 p1671-1681
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s00204-021-03007-1
Keywords:
DDT,Endocrine disrupting chemical,HCG/LHR signaling,Steroidogenesis
Case Report: Complete Necrosis of a Large Adrenocortical Cancer and Liver Metastases Achieved by Selective Arterial Embolization: A Case Study and Review of Literature
Author(s):
Huszty G, Doros A, Farkas K, Kóbori L, Reismann P, Tőke J, Tóth M, Igaz P
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA1501
DOI:
10.3389/fendo.2021.677187
Keywords:
adrenocortical cancer,embolization,liver metastasis,necrosis,trans-arterial
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
Author(s):
Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Wolfram syndrome
Publication:
Human Molecular Genetics v30.3-4 p265-276
Year:
2021
ORPHAcode / other:
ORPHA3463
Obesity in Prader–Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches
Author(s):
Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, Ruggeri RM, Scarano E, Savastano S, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ; AOU University of Campania "Luigi Vanvitelli", Naples ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Journal of Endocrinological Investigation v44.10 p2057-2070
Year:
2021
ORPHAcode / other:
ORPHA739
DOI:
10.1007/s40618-021-01574-9
Keywords:
Diabetes mellitus,Hyperphagia,Obesity,Prader–Willi syndrome
Approach to the Virilizing Girl at Puberty
Author(s):
Santi M, Graf S, Zeino M, Cools M, Van De Vijver K, Trippel M, Aliu N, Flück CE
Affiliated Institution / ERN:
Condition / Disease:
46,XX DSD
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.5 p1530-1539
Year:
2021
ORPHAcode / other:
ORPHA2928
DOI:
10.1210/clinem/dgaa948
Keywords:
androgen excess,disorders/differences of sex development (DSD),endocrine active tumors,genetic disorders of androgen excess,virilization
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
Author(s):
Eggermann T, Davies JH, Tauber M, van den Akker E, Hokken-Koelega A, Johansson G, Netchine I
Affiliated Institution / ERN:
University Hospital Aachen ; CHU de Toulouse ; Erasmus MC: University Medical Center Rotterdam ; Sahlgrenska University Hospital ;
Condition / Disease:
Imprinting disorders and growth disturbance
Publication:
Genes v12.4 p585
Year:
2021
ORPHAcode / other:
ORPHA739, ORPHA813, ORPHA254516, ORPHA94089
DOI:
10.3390/genes12040585
Keywords:
Prader-Willi syndrome,Silver-Russell syndrome,differentially methylated regions,growth restriction,imprinted gene network,imprinting disorders,overgrowth,pseudoparahypoparathyreoidism,temple syndrome,transient neonatal diabetes
High Prevalence of Weight Gain in Childhood Brain Tumor Survivors and Its Association With Hypothalamic-Pituitary Dysfunction
Author(s):
van Schaik J, van Roessel IMAA, Schouten-van Meeteren NAYN, van Iersel L, Clement SC, Boot AM, Claahsen-van der Grinten HL, Fiocco M, Janssens GO, van Vuurden DG, Michiels EM, Han SKS, van Trotsenburg PASP, Vandertop PWP, Kremer LCM, van Santen HM
Affiliated Institution / ERN:
University Medical Center Utrecht ; Amsterdam UMC ; University Medical Center Groningen ; Radboud University Medical Centre Nijmegen ; Leiden University Medical Center ;
Condition / Disease:
Hypothalamic-Pituitary Dysfunction
Publication:
Journal of Clinical Oncology v39.11 p1264-1273
Year:
2021
ORPHAcode / other:
ORPHA95503, ORPHA54595, ORPHA99408
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy
Author(s):
Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D’Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F, _ _, _ _, Aloe M, Amadeo S, Arnaldi C, Bassi M, Beccaria L, Benelli M, Maria Berioloi G, Bertelli E, Biagioni M, Bobbio A, Boccato S, Bologna O, Bontempi F, Bonura C, Bracciolini G, Brufani C, Bruzzi P, Buono P, Calcaterra V, Cardani R, Cardinale G, Casertano A, Cristina Castiglione M, Cauvin V, Cherubini V, Chiarelli F, Chiari G, Cianfarani S, Cirillo D, Citriniti F, Coccioli S, Cogliardi A, Confetto S, Contreas G, Corò A, Corsini E, Cresta N, De Berardinis F, De Donno V, De Filippo G, De Marco R, Deodati A, Faleschini E, Fattorusso V, Favalli V, Felappi B, Ferrito L, Fichera G, Fontana F, Fornari E, Franceschi R, Franco F, Franzese A, Paola Frongia A, Gaiero A, Gallo F, Gargantini L, Giani E, Giorgetti C, Bianchi G, Graziani V, Gualtieri A, Guasti M, Iannicelli G, Iannilli A, Giovanna I, Ingletto D, Innaurato S, Inzaghi E, Iovane B, Kaufmann P, La Loggia A, Lapolla R, Lasagni A, Lazzaro N, Lenzi L, Lera R, Levantini G, Lombardo F, Lonero A, Longhi S, Lucchesi S, Paola Guerraggio L, Lucieri S, Macellaro P, Maffeis C, Mainetti B, Maltoni G, Mameli C, Mammì F, Luisa Manca-Bitti M, Manco M, Marino M, Mariano M, Marigliano M, Marsciani A, Mastrangelo C, Cristina Matteoli M, Mazzali E, Meschi F, MIgliaccio A, Morandi A, Morganti G, Mozzillo E, Musolino G, Nugnes R, Ortolani F, Pardi D, Pascarella F, Passanisi S, Pedini A, Pennati C, Perrotta A, Peruzzi S, Peverelli P, Pezzino G, Claudia Piona A, Piredda G, Pistone C, Prandi E, Pedieri B, Di Bonito P, Pulcina A, Quinci M, Randazzo E, Ricciardi R, Ripoli C, Roppolo R, Rutigliano I, Sabbio A, salardi S, Salvatoni A, Saporiti A, Sardi R, Scanu M, Scaramuzza A, Eleonardo Schiven,, Secco A, Sessa L, Sogno Valin P, Sordelli S, Spallino L, Stagi S, Stamati F, Suprani T, Talarico V, Timapanaro T, Tirendi A, Tomaselli L, Tornese G, Andrea Trettene A, Tumini S, Valerio G, Ventrici C, Viscardi M, Zaffani S, Zampolli M, Zanette G, Zecchino C, Antonietta Zedda M, Zonca S, Zucchini S
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; AOU University of Campania "Luigi Vanvitelli", Naples ; AO City of Health and Science - Turin ; AOU - Modena ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ;
Condition / Disease:
Neonatal diabetes mellitus
Publication:
European Journal of Endocrinology v184.4 p575-585
Year:
2021
ORPHAcode / other:
ORPHA224
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry
Author(s):
Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abali Z, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Costa EC, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran T, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay A, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano R, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ, Krone NP
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; Aarhus University Hospital ; Leiden University Medical Center ; Beaumont & CHI - Dublin ; Klinikum Wels Grieskirchen ; AOU-Bologna ; Charité Universitätsmedizin Berlin ; Klinikum der Universität München ; Ghent University Hospital ; Amsterdam UMC ; Radboud University Medical Centre Nijmegen ; Erasmus MC: University Medical Center Rotterdam ; UMHAT “Sveta Marina” (Varna) ; University Medical Center Utrecht ; Universitätsklinikum Magdeburg ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
European Journal of Endocrinology v184.4 p553-563
Year:
2021
ORPHAcode / other:
ORPHA418
Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk
Author(s):
Nucci AM, Virtanen SM, Cuthbertson D, Ludvigsson J, Einberg U, Huot C, Castano L, Aschemeier B, Becker DJ, Knip M, Krischer JP, Mandrup-Poulsen T, Arjas E, Läärä E, Lernmark Ã, Schmidt B, Krischer JP, Åkerblom HK, Hyytinen M, Knip M, Koski K, Koski M, Pajakkala E, Salonen M, Cuthbertson D, Krischer JP, Shanker L, Bradley B, Dosch H, Dupré J, Fraser W, Lawson M, Mahon JL, Sermer M, Taback SP, Becker D, Franciscus M, Nucci A, Palmer J, Virtanen SM, Catteau J, Howard N, Crock P, Craig M, Clarson CL, Bere L, Thompson D, Metzger D, Marshall C, Kwan J, Stephure DK, Pacaud D, Schwarz W, Girgis R, Thompson M, Taback SP, Catte D, Lawson ML, Bradley B, Daneman D, Sermer M, Martin M, Morin V, Frenette L, Ferland S, Sanderson S, Heath K, Huot C, Gonthier M, Thibeault M, Legault L, Laforte D, Cummings EA, Scott K, Bridger T, Crummell C, Houlden R, Breen A, Carson G, Kelly S, Sankaran K, Penner M, White RA, King N, Popkin J, Robson L, Al Taji E, Mendlova P, Romanova M, Vavrinec J, Vosahlo J, Brazdova L, Venhacova J, Venhacova P, Cipra A, Tomsikova Z, Paterová P, Gogelova P, Einberg Ã, Riikjärv M, Ormisson A, Tillmann V, Johansson S, Kleemola P, Parkkola A, Järvenpää A, Hämäläinen A, Kiiveri S, Salonen M, Tenhola S, Salonen P, Jason E, Selvenius J, Siljander H, Ylitalo S, Paajanen I, Talvitie T, Lindström K, Huopio H, Pesola J, Veijola R, Tapanainen P, Alar A, Popov E, Virransalo R, Nykänen P, Aschemeier B, Danne T, Kordonouri O, Krikovszky D, Madácsy L, Khazrai YM, Maddaloni E, Pozzilli P, Mannu C, Songini M, de Beaufort C, Schierloh U, Bruining J, Bisschoff M, Basiak A, Wasikowa R, Ciechanowska M, Deja G, Jarosz-Chobot P, Szadkowska A, Cypryk K, Zawodniak-Szalapska M, Castano L, Frutos TG, Oyarzabal M, Serrano-Ríos M, Martínez-Larrad MT, Hawkins FG, Arnau DR, Ludvigsson J, Konefal MS, Hanas R, Lindblad B, Nilsson N, Fors H, Nordwall M, Lindh A, Edenwall H, Åman J, Johansson C, Gadient M, Konrad D, Schoenle E, Becker D, Daftary A, Klein MB, Gilmour C, Palmer J, Malone P, Tanner-Blasiar M, White N, Devaskar U, Horowitz H, Rogers L, Colon R, Frazer T, Torres J, Goland R, Greenberg E, Schachner H, Softness B, Ilonen J, Trucco M, Nichol L, Savilahti E, Härkönen T, Knip M, Vaarala O, Luopajärvi K, Dosch H
Affiliated Institution / ERN:
Condition / Disease:
Type 1 Diabetes Mellitus
Publication:
Diabetologia v64.4 p826-835
Year:
2021
ORPHAcode / other:
5A10
DOI:
10.1007/s00125-020-05358-3
Keywords:
Beta cell autoimmunity,Childhood growth,Genetic risk,Length,Type 1 diabetes,Weight
Prognosis after surgery for multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors: Functionality matters
Author(s):
van Beek D, Nell S, Verkooijen HM, Borel Rinkes IH, Valk GD, Vriens MR, Goudet P, Santucci N, Bartsch DK, Manoharan J, Perrier ND, Zagzag J, Brandi ML, Giusti F, Nilubol N, Brunaud L, Pasternak JD, Hsiao R, Sturgeon C, Giri S, Conemans EB, Brosens LA, Bonsing BA, van Eijck CH, van Goor H, de Kleine RH, Nieveen van Dijkum EJ, Kazemier G, Dejong CH
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Surgery v169.4 p963-973
Year:
2021
ORPHAcode / other:
ORPHA652
Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction
Author(s):
Tauber M, Hoybye C
Affiliated Institution / ERN:
CHU de Toulouse ;
Condition / Disease:
Prader-Willi syndrome
Publication:
The Lancet Diabetes & Endocrinology v9.4 p235-246
Year:
2021
ORPHAcode / other:
ORPHA739
Generation and Differentiation of Adult Tissue-Derived Human Thyroid Organoids
Author(s):
Ogundipe VM, Groen AH, Hosper N, Nagle PW, Hess J, Faber H, Jellema AL, Baanstra M, Links TP, Unger K, Plukker JT, Coppes RP
Affiliated Institution / ERN:
Klinikum der Universität München ; University Medical Center Groningen ;
Condition / Disease:
Thyroid regeneration
Publication:
Stem Cell Reports v16.4 p913-925
Year:
2021
ORPHAcode / other:
DOI:
10.1016/j.stemcr.2021.02.011
Keywords:
hypothyroidism,regeneration,stem cells,thyroglobulin,thyroid cancer,thyroid-tissue-derived organoids,xeno-transplanation
Somatostatin Analogs for Pancreatic Neuroendocrine Tumors: Any Benefit When Ki-67 Is ≥10%?
Author(s):
Merola E, Alonso Gordoa T, Zhang P, Al-Toubah T, Pellè E, Kolasińska-Ćwikła A, Zandee W, Laskaratos F, Mestier L, Lamarca A, Hernando J, Cwikla J, Strosberg J, Herder W, Caplin M, Cives M, Leeuwaarde R
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Pancreatic neuroendocrine neoplasms
Publication:
The Oncologist v26.4 p294-301
Year:
2021
ORPHAcode / other:
ORPHA97253
DOI:
10.1002/onco.13633
Keywords:
G2,G3,Hepatic tumor load,Lanreotide,Octreotide,Pancreatic neuroendocrine tumor
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO
Author(s):
Ziegler A, Denommé‐Pichon A, Boucher S, Bouzamondo N, Colin E, Dieu X, Jean Yves T, Bouhours N, Rouleau S, Coutant R, Rodien P, Prunier D, Bonneau D
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Congenital hypothyroidism
Publication:
Clinical Genetics v99.4 p604-606
Year:
2021
ORPHAcode / other:
ORPHA442
SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis
Author(s):
Lambert S, Peycelon M, Samara‐Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye‐Jaouen A, Bouligand J, Siffroi J, Carel J, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Hôpital Bicêtre ;
Condition / Disease:
Ovotesticular DSD
Publication:
Clinical Endocrinology v94.4 p667-676
Year:
2021
ORPHAcode / other:
ORPHA2138
DOI:
10.1111/cen.14389
Keywords:
46,XX-SRY-negative DSD,GnRH analog,minipuberty,ovotesticular DSD,testicular DSD
HOMA-IR in acromegaly: a systematic review and meta-analysis
Author(s):
Biagetti B, Aulinas A, Casteras A, Pérez-Hoyos S, Simó R
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ; Hospital de la Santa Creu i Sant Pau ;
Condition / Disease:
Acromegaly
Publication:
Pituitary v24.2 p146-158
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-020-01092-6
Keywords:
Acromegaly,Diabetes mellitus,HOMA,Insulin resistance,Meta-analysis
Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
Author(s):
Casar-Borota O, Boldt H, Engström B, Andersen MS, Baussart B, Bengtsson D, Berinder K, Ekman B, Feldt-Rasmussen U, Höybye C, Jørgensen JOL, Kolnes AJ, Korbonits M, Rasmussen ÃK, Lindsay JR, Loughrey PB, Maiter D, Manojlovic-Gacic E, Pahnke J, Poliani PL, Popovic V, Ragnarsson O, Schalin-Jäntti C, Scheie D, Tóth M, Villa C, Wirenfeldt M, Kunicki J, Burman P
Affiliated Institution / ERN:
Karolinska University Hospital ; Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; Oslo University Hospital ; University Hospitals Saint-Luc ; Universitätsklinikum Schleswig-Holstein ; Sahlgrenska University Hospital ; Helsinki University Hospital (HUS) ; Semmelweis University ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Maria Sklodowska-Curie National Research Institute of Oncology (MSCNRIO) ;
Condition / Disease:
Cushing disease
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 pe1183-e1194
Year:
2021
ORPHAcode / other:
ORPHA96253
DOI:
10.1210/clinem/dgaa749
Keywords:
ATRX (alpha thalassemia/mental retardation syndrome X-linked),Cushing’s disease,aggressive PitNETs,pituitary adenoma,pituitary carcinoma
Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension
Author(s):
Erlic Z, Reel P, Reel S, Amar L, Pecori A, Larsen CK, Tetti M, Pamporaki C, Prehn C, Adamski J, Prejbisz A, Ceccato F, Scaroni C, Kroiss M, Dennedy MC, Deinum J, Langton K, Mulatero P, Reincke M, Lenzini L, Gimenez-Roqueplo A, Assié G, Blanchard A, Zennaro MC, Jefferson E, Beuschlein F
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma and paraganglioma, Cushing syndrome, Primary aldosteronism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 pe1111-e1128
Year:
2021
ORPHAcode / other:
ORPHA573163, ORPHA553, ORPHA181415
DOI:
10.1210/clinem/dgaa954
Keywords:
Cushing syndrome,arterial hypertension,pheochromocytoma,primary aldosteronism,screening,targeted metabolomics
Distant Metastases From Childhood Differentiated Thyroid Carcinoma: Clinical Course and Mutational Landscape
Author(s):
Nies M, Vassilopoulou-Sellin R, Bassett RL, Yedururi S, Zafereo ME, Cabanillas ME, Sherman SI, Links TP, Waguespack SG
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 p1683-1697
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1210/clinem/dgaa935
Keywords:
fusion gene,lung metastasis,pediatric thyroid cancer,prognosis,somatic mutation,stage II
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease
Author(s):
Hokken-Koelega A, Reincke M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
Author(s):
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux J, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Affiliated Institution / ERN:
UZ Leuven ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Ghent University Hospital ; University Hospitals Saint-Luc ; University Hospital Liège ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA89936
DOI:
10.3389/fendo.2021.641543
Keywords:
X-linked hypophosphatemia,burosumab,fibroblast growth factor 23 (FGF23),osteomalacia,rickets,vitamin D
European Reference Networks: challenges and opportunities
Author(s):
Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus & Nicoline Hoogerbrugge
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Community Genetics 2021
Year:
2021
ORPHAcode / other:
Disease and Treatment-Related Burden in Patients With Acromegaly Who Are Biochemically Controlled on Injectable Somatostatin Receptor Ligands
Author(s):
Fleseriu M, Molitch M, Dreval A, Biermasz NR, Gordon MB, Crosby RD, Ludlam WH, Haviv A, Gilgun-Sherki Y, Mathias SD
Affiliated Institution / ERN:
Leiden University Medical Center ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2021.627711
Keywords:
Acro-TSQ,acromegaly,burden,patient-reported outcome,quality of life,somatostatin receptor ligands
Multiple Endocrine Neoplasia Type 1: Latest Insights
Author(s):
Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Endocrine Reviews v42.2 p133-170
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1210/endrev/bnaa031
Keywords:
MEN1,epigenetics,menin,mouse models,mutation-negative,neuroendocrine tumors,pharmacological therapies,phenocopy,quality of life,surgical approaches
Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology
Author(s):
Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Veronique Beauloye, Joachim Pohlenz, Patrice Rodien, Regis Coutant, Gabor Szinnai, Philip Murray, Beate Bartés, Dominique Luton, Mariacarolina Salerno, Luisa de Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, and Michel Polak
Affiliated Institution / ERN:
Condition / Disease:
Congenital Hypothyroidism
Publication:
Mary Ann Liebert, Inc ThyroidVol. 31, No. 3
Year:
2021
ORPHAcode / other:
ORPHA442
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Author(s):
Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.3 pe1231-e1239
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgaa901
Keywords:
IQ,central hypothyroidism,cognitive outcome,congenital hypopituitarism,congenital hypothyroidism,neonatal screening