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Endo ERN
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

Filter list of publications

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
MTG8

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
DOI: 10.1530/EJE-19-0363 Keywords:

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:
DOI: Keywords:
MTG1

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
DOI: 10.1210/clinem/dgz188 Keywords: hypercortisolism; ACTH; cortisol; symptoms; meta-analysis;
MTG1 MTG6

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
DOI: 10.1210/clinem/dgz096 Keywords: acromegaly; comorbidities; consensus; diagnosis; treatment;
MTG6

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
DOI: 10.1016/j.mayocp.2019.03.030 Keywords:
MTG1 MTG4

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:
DOI: Keywords:
MTG7

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
DOI: 10.1530/EJE-19-0119 Keywords:
MTG3

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:
DOI: Keywords:

Journal Digest for Congenital Hyperinsulinism


Author(s): Banerjee I, Mohnike K
Affiliated Institution / ERN:
Condition / Disease:
Publication: Year: 2019 ORPHAcode / other:
DOI: Keywords:
MTG3

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:
DOI: Keywords:
MTG7

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
DOI: 10.1210/jc.2018-01189 Keywords:
MTG5 MTG6

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
MTG1 MTG6

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
DOI: DOI: 10.1210/js.2018-00261 Keywords: Cushing syndrome,PPNAD,twins,unilateral adrenalectomy
MTG1

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:
DOI: Keywords:

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:
DOI: Keywords:

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:
DOI: Keywords:

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:
DOI: Keywords:
MTG7

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:
DOI: 10.1210/jc.2014-2700 Keywords:
MTG6
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