Endo-ERN Publications Database
890 publication(s) found matching the search criteria
Apparent resistance to thyroid hormones: From biological interference to genetics
Author(s):
Dieu X, Sueur G, Moal V, Boux de Casson F, Bouzamondo N, Bouhours N, Briet C, Illouz F, Reynier P, Coutant R, Rodien P, Mirebeau-Prunier D
Affiliated Institution / ERN:
Condition / Disease:
Thyroid hormone resistance syndromes
Publication:
Annales d'Endocrinologie v80.5-6 p280-285
Year:
2019
ORPHAcode / other:
ORPHA596426
DOI:
10.1016/j.ando.2019.06.005
Keywords:
Albumin,Albumine,Immunoassay interference,Interférence analytique,Resistance to thyroid hormones,Résistance aux hormones thyroïdiennes,TBG,THRB,Transthyretin,Transthyrétine
Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet
Author(s):
Flück C, Nordenström A, Ahmed SF, Ali SR, Berra M, Hall J, Köhler B, Pasterski V, Robeva R, Schweizer K, Springer A, Westerveld P, Hiort O, Cools M, _ _
Affiliated Institution / ERN:
Condition / Disease:
DSD
Publication:
European Journal of Endocrinology v181.5 p545-564
Year:
2019
ORPHAcode / other:
ORPHA90771
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Author(s):
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Clinical Biochemistry Volume 73, 2019, Pages 50-56
Year:
2019
ORPHAcode / other:
Time to Diagnosis in Cushing’s Syndrome: A Meta-Analysis Based on 5367 Patients
Author(s):
German Rubinstein, Andrea Osswald, Eva Hoster, Marco Losa, Atanaska Elenkova, Sabina Zacharieva, Márcio Carlos Machado, Felicia Alexandra Hanzu, Stephanie Zopp, Katrin Ritzel, Anna Riester, Leah Theresa Braun, Ilonka Kreitschmann-Andermahr, Helen L Storr, Prachi Bansal, María-José Barahona, Elisa Cosaro, Sema Ciftci Dogansen, Philip C Johnston, Ricardo Santos de Oliveira, Christian Raftopoulos, Carla Scaroni, Elena Valassi, Steven J A van der Werff, Jochen Schopohl, Felix Beuschlein, Martin Reincke
Affiliated Institution / ERN:
University Medical Center Groningen ; Radboud University Medical Centre Nijmegen ; Erasmus MC: University Medical Center Rotterdam ; Amsterdam UMC ; Máxima Medisch Centrum Veldhoven ; Maastricht University Medical Center+ ; Leiden University Medical Center ;
Condition / Disease:
Cushing’s Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism Volume 105, Issue 3, March 2020, Pages e12–e22
Year:
2019
ORPHAcode / other:
ORPHA553
A Consensus on the Diagnosis and Treatment of Acromegaly Comorbidities: An Update
Author(s):
Andrea Giustina, Ariel Barkan, Albert Beckers, Nienke Biermasz, Beverly M K Biller, Cesar Boguszewski, Marek Bolanowski, Vivien Bonert, Marcello D Bronstein, Felipe F Casanueva, David Clemmons, Annamaria Colao, Diego Ferone, Maria Fleseriu,, Stefano Frara, Monica R Gadelha, Ezio Ghigo, Mark Gurnell, Anthony P Heaney, Ken Ho, Adriana Ioachimescu, Laurence Katznelson, Fahrettin Kelestimur, John Kopchick, Michal Krsek, Steven Lamberts, Marco Losa, Anton Luger, Pietro Maffei, Monica Marazuela, Gherardo Mazziotti, Moises Mercado, Pietro Mortini, Sebastian Neggers,, Alberto M Pereira, Stephan Petersenn, Manel Puig-Domingo, Roberto Salvatori, Ilan Shimon, Christian Strasburger, Stylianos Tsagarakis, A J van der Lely, John Wass, Maria Chiara Zatelli, Shlomo Melmed
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
The Journal of Clinical Endocrinology & Metabolism 2020 Apr 1;105(4):dgz096. doi: 10.1210/clinem/dgz096
Year:
2019
ORPHAcode / other:
ORPHA963
Diagnostic Accuracy of Computed Tomography to Exclude Pheochromocytoma: A Systematic Review, Meta-analysis, and Cost Analysis
Author(s):
Buitenwerf E, Berends AM, van Asselt AD, Korteweg T, Greuter MJ, Veeger NJ, Links TP, Dullaart RP, Kerstens MN
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma
Publication:
Mayo Clinic Proceedings v94.10 p2040-2052
Year:
2019
ORPHAcode / other:
ORPHA573163
Addressing gaps in care of people with conditions affecting sex development and maturation
Author(s):
Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy S, Kulle A, Ahmed S, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Nature Reviews Endocrinology volume 15, pages 615–622, 2019
Year:
2019
ORPHAcode / other:
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome
Author(s):
Welters A, El-Khairi R, Dastamani A, Bachmann N, Bergmann C, Gilbert C, Clement E, Hurst JA, Quercia N, Wasserman JD, Meissner T, Shah P, Kummer S
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
European Journal of Endocrinology v181.2 p121-128
Year:
2019
ORPHAcode / other:
ORPHA165985
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
Author(s):
Stefan Groeneweg, Prof Robin P Peeters, Carla Moran, Athanasia Stoupa, Françoise Auriol, Davide Tonduti, Alice Dica, Laura Paone, Klara Rozenkova, Jana Malikova, Adri van der Walt, Irenaeus F M de Coo, Anne McGowan, Greta Lyons, Femke K Aarsen, Diana Barca, Ingrid M van Beynum, Marieke M van der Knoop, Jurgen Jansen, Martien Manshande, Roelineke J Lunsing, Stan Nowak, Corstiaan A den Uil, Prof M Carola Zillikens, Frank E Visser, Paul Vrijmoeth, Marie Claire Y de Wit, Nicole I Wolf, Angelique Zandstra, Gautam Ambegaonkar, Yogen Singh, Prof Yolanda B de Rijke, Marco Medici, Prof Enrico S Bertini, Sylvia Depoorter, Prof Jan Lebl, Marco Cappa, Prof Linda De Meirleir, Prof Heiko Krude, Prof Dana Craiu, Federica Zibordi, Isabelle Oliver Petit, Prof Michel Polak, Krishna Chatterjee, Prof Theo J Visser, W Edward Visser
Affiliated Institution / ERN:
Condition / Disease:
Publication:
The Lancet Diabetes & Endocrinology VOLUME 7, ISSUE 9, P695-706
Year:
2019
ORPHAcode / other:
Journal Digest for Congenital Hyperinsulinism
Author(s):
Banerjee I, Mohnike K
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Year:
2019
ORPHAcode / other:
How can we make pregnancy safe for women with Turner syndrome?
Author(s):
Donadille B, Bernard V, Christin-Maitre S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
American Journal of Medical Genetics 2019 Mar;181(1):100-107
Year:
2019
ORPHAcode / other:
Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program
Author(s):
Child CJ, Zimmermann AG, Chrousos GP, Cummings E, Deal CL, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Pérez Sánchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld RG, Yeste D, Yorifuji T, Blum WF
Affiliated Institution / ERN:
Condition / Disease:
Short stature
Publication:
The Journal of Clinical Endocrinology & Metabolism v104.2 p379-389
Year:
2019
ORPHAcode / other:
ORPHA101957, ORPHA881
Are there Reliable Predictors for the Impaired Quality of Life in Patients With Cushing’s Syndrome?
Author(s):
Nankova A
Affiliated Institution / ERN:
Condition / Disease:
Cushing’s Syndrome
Publication:
Acta Endocrinologica (Bucharest) v15.4 p482-490
Year:
2019
ORPHAcode / other:
ORPHA553
DOI:
10.4183/aeb.2019.482
Keywords:
Cushing's syndrome,Quality of life,adrenal adenoma,adrenalectomy
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins
Author(s):
Kyrilli A, Lytrivi M, Bouquegneau MS, Demetter P, Lucidi V, Garcia C, Moreno-Reyes R, Tabarin A, Corvilain B, Driessens N
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
Journal of the Endocrine Society v3.1 p129-134
Year:
2019
ORPHAcode / other:
ORPHA647758
The current landscape of European registries for rare endocrine conditions
Author(s):
Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF
Affiliated Institution / ERN:
Condition / Disease:
Publication:
European Journal of Endocrinology Volume 180: Issue 1 Page(s): 89–98
Year:
2019
ORPHAcode / other:
Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”.
Author(s):
Bertalan R, Lucas-Herald A, Kolesinska Z, Berra M, Cools M, Balsamo A, Hiort O
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases 13, 227, 2018
Year:
2018
ORPHAcode / other:
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism
Author(s):
Persani L, Brabant G, Dattani M, Bonomi M, Feldt-Rasmussen U, Fliers E, Gruters A, Maiter D, Schoenmakers N, Trotsenburg A van
Affiliated Institution / ERN:
Condition / Disease:
Publication:
European Thyroid Journal 2018;7:225–237
Year:
2018
ORPHAcode / other:
Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network.
Author(s):
Hannema S, de Rijke Y
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Karger Authors Choice Sex Dev 2018;12:135-139
Year:
2018
ORPHAcode / other:
The impact of thyroid autoimmunity on IVF/ICSI outcome: a systematic review and meta-analysis
Author(s):
Busnelli A, Paffoni A, Fedele L, Somigliana E
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Publication:
Human Reproduction Update v22.6 p775-790
Year:
2016
ORPHAcode / other:
DOI:
10.1093/humupd/dmw019
Keywords:
ICSI,IVF,clinical pregnancy,fertilisation,implantation,live birth,miscarriage,oocyte number,thyroid,thyroid autoimmunity
Acromegaly: An Endocrine Society Clinical Practice Guideline
Author(s):
Laurence Katznelson, Edward R Laws, Jr, Shlomo Melmed, Mark E Molitch, Mohammad Hassan Murad, Andrea Utz, John A H Wass
Affiliated Institution / ERN:
Condition / Disease:
Publication:
The Journal of Clinical Endocrinology & Metabolism Volume 99, Issue 11, 1 November 2014, Pages 3933–3951
Year:
2014
ORPHAcode / other: