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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

Fertility preservation in boys: recent developments and new insights †


Author(s): Goossens E, Jahnukainen K, Mitchell R, van Pelt A, Pennings G, Rives N, Poels J, Wyns C, Lane S, Rodriguez-Wallberg K, Rives A, Valli-Pulaski H, Steimer S, Kliesch S, Braye A, Andres M, Medrano J, Ramos L, Kristensen S, Andersen C, Bjarnason R, Orwig K, Neuhaus N, Stukenborg J
Affiliated Institution / ERN:
Condition / Disease: Fertility preservation
Publication: Human Reproduction Open v2020.3 Year: 2020 ORPHAcode / other:
DOI: 10.1093/hropen/hoaa016 Keywords: cryopreservation,fertility preservation,fertility restoration,in vitro spermatogenesis,prepubertal boys,spermatogonial stem cell,testicular tissue freezing,testis,transplantation

Increasing physical activity in adult women with Prader–Willi syndrome: A transferability study


Author(s): Bellicha A, Coupaye M, Hocquaux L, Speter F, Oppert J, Poitou C
Affiliated Institution / ERN:
Condition / Disease: Prader-Willi syndrome
Publication: Journal of Applied Research in Intellectual Disabilities v33.2 p258-267 Year: 2020 ORPHAcode / other: ORPHA739
DOI: 10.1111/jar.12669 Keywords: Prader-Willi syndrome,accelerometers,exercise training,obesity,physical activity
MTG5

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation


Author(s): Esmel-Vilomara R, Hernández S, Campos-Martorel A, González-Roca E, Yeste D, Castillo F
Affiliated Institution / ERN: ERN BOND ; ERN BOND ;
Condition / Disease: Hypophosphatasia
Publication: Journal of Clinical Research in Pediatric Endocrinology v12.1 p104-108 Year: 2020 ORPHAcode / other: ORPHA436
DOI: 10.4274/jcrpe.galenos.2019.2018.0263 Keywords: Hypophosphatasia,mutation,newborn,alkaline phosphatase

Increased number of retinal vessels in acromegaly


Author(s): Füchtbauer L, Olsson DS, Coopmans EC, Bengtsson B, Norrman L, Neggers SJCMM, Hellström A, Johannsson G
Affiliated Institution / ERN: Sahlgrenska University Hospital ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Acromegaly
Publication: European Journal of Endocrinology v182.3 p293-302 Year: 2020 ORPHAcode / other: ORPHA963
DOI: 10.1530/EJE-19-0778 Keywords:
MTG6

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy


Author(s): Plachy L, Dusatkova P, Maratova K, Petruzelkova L, Zemkova D, Elblova L, Kucerova P, Toni L, Kolouskova S, Snajderova M, Sumnik Z, Lebl J, Pruhova S
Affiliated Institution / ERN: University Hospital Motol ;
Condition / Disease: Familial Short Stature
Publication: The Journal of Clinical Endocrinology & Metabolism v105.3 pe746-e752 Year: 2020 ORPHAcode / other: MG44.14
DOI: 10.1210/clinem/dgaa037 Keywords: NPR2,familial short stature,growth hormone treatment,growth plate disorders,next-generation sequencing
MTG5

The External Genitalia Score (EGS): A European Multicenter Validation Study


Author(s): van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
Affiliated Institution / ERN:
Condition / Disease: Measure validation
Publication: The Journal of Clinical Endocrinology & Metabolism v105.3 pe222-e230 Year: 2020 ORPHAcode / other: ORPHA90771
DOI: 10.1210/clinem/dgz142 Keywords: anogenital distances,atypical genitalia,external genitalia score,external masculinization score
MTG7

Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study


Author(s): Rojo-Martínez G, Valdés S, Soriguer F, Vendrell J, Urrutia I, Pérez V, Ortega E, Ocón P, Montanya E, Menéndez E, Lago-Sampedro A, González- Frutos T, Gomis R, Goday A, García-Serrano S, García-Escobar E, Galán-García JL, Castell C, Badía-Guillén R, Aguilera-Venegas G, Girbés J, Gaztambide S, Franch-Nadal J, Delgado E, Chaves FJ, Castaño L, Calle-Pascual A
Affiliated Institution / ERN:
Condition / Disease: Type 2 Diabetes Mellitus
Publication: Scientific Reports v10.1 Year: 2020 ORPHAcode / other: 5A11
DOI: 10.1038/s41598-020-59643-7 Keywords:
MTG3

Prevalence and progression of carbohydrate disorders in patients with pheochromocytoma/paraganglioma: retrospective single-center study


Author(s): Elenkova A, Matrozova J, Vasilev V, Robeva R, Zacharieva S
Affiliated Institution / ERN:
Condition / Disease: Pheochromocytoma and paraganglioma
Publication: Annales d'Endocrinologie v81.1 p3-10 Year: 2020 ORPHAcode / other: ORPHA276621, ORPHA29072
DOI: 10.1016/j.ando.2020.01.001 Keywords: Adrenergic receptors,Catecholamines,Catécholamines,Diabetes,Diabète sucré,Insulin resistance,Insulin secretion,Intolérance au glucose,Pheochromocytoma,Phéochromocytome,Prediabetes,Récepteurs adrénergiques,Résistance à l’insuline
MTG1 MTG4

Androgen receptor expression in preputial dartos tissue correlates with physiological androgen exposure in congenital malformations of the penis and in controls


Author(s): Tack L, Praet M, Van Dorpe J, Haid B, Buelens S, Hoebeke P, Van Laecke E, Cools M, Spinoit A
Affiliated Institution / ERN:
Condition / Disease: Hypospadias
Publication: Journal of Pediatric Urology v16.1 p43.e1-43.e8 Year: 2020 ORPHAcode / other: LB53
DOI: 10.1016/j.jpurol.2019.10.031 Keywords: AR,Androgen receptor,Buried penis,Foreskin,Hypospadias,Pathophysiology
MTG7

Effectiveness and toxicity of lenvatinib in refractory thyroid cancer: Dutch real-life data


Author(s): Aydemirli MD, Kapiteijn E, Ferrier KRM, Ottevanger PB, Links TP, van der Horst-Schrivers ANA, Broekman KE, Groenwold RHH, Zwaveling J
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: European Journal of Endocrinology v182.2 p131-138 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1530/EJE-19-0763 Keywords:
MTG8

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient


Author(s): Jullien M, Reichert T, D’Anella P, Castinetti F, Barlier A, Brue T, Taieb D, Cuny T
Affiliated Institution / ERN:
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Annales d'Endocrinologie v81.1 p39-43 Year: 2020 ORPHAcode / other: ORPHA652
DOI: 10.1016/j.ando.2019.11.001 Keywords: (18)F-FDOPA TEP/TDM,18F-FDOPA PET/CT,68(Ga)-DOTATATE TEP/TDM,68Ga-Dotatate PET/CT,MEN1,NEM1,Neuroendocrine,Pancreas,Pancréas
MTG4

The Efficacy of Mitotane in Human Primary Adrenocortical Carcinoma Cultures


Author(s): van Koetsveld PM, Creemers SG, Dogan F, Franssen GJH, de Herder WW, Feelders RA, Hofland LJ
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Adrenocortical carcinoma
Publication: The Journal of Clinical Endocrinology & Metabolism v105.2 p407-417 Year: 2020 ORPHAcode / other: ORPHA1501
DOI: 10.1210/clinem/dgz001 Keywords:
MTG1

Radiotherapy of Parasellar Tumours


Author(s): Albano L, Losa M, Flickinger J, Mortini P, Minniti G
Affiliated Institution / ERN:
Condition / Disease: Craniopharyngioma
Publication: Neuroendocrinology v110.9-10 p848-858 Year: 2020 ORPHAcode / other: ORPHA54595
DOI: 10.1159/000506902 Keywords: Craniopharyngioma,Meningioma,Oncology,Parasellar,Radiation
MTG6

Effect of Vasopressin on the Hypothalamic-Pituitary-Adrenal Axis in ADPKD Patients during V2 Receptor Antagonism


Author(s): Heida JE, Minović I, van Faassen M, Kema IP, Boertien WE, Bakker SJ, van Beek AP, Gansevoort RT
Affiliated Institution / ERN: University Hospital Essen ; ERN BOND ;
Condition / Disease: Autosomal dominant polycystic kidney disease
Publication: American Journal of Nephrology v51.11 p861-870 Year: 2020 ORPHAcode / other: ORPHA730
DOI: 10.1159/000511000 Keywords: Autosomal dominant polycystic kidney disease,Cortisol,Glucocorticoid metabolites,V2 receptor antagonist

Clinical implications of the oncometabolite succinate in SDHx‐mutation carriers


Author(s): Eijkelenkamp K, Osinga TE, Links TP, van der Horst‐Schrivers AN
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Pheochromocytoma
Publication: Clinical Genetics v97.1 p39-53 Year: 2020 ORPHAcode / other: ORPHA573163
DOI: 10.1111/cge.13553 Keywords: SDH mutation,oncometabolites,paraganglioma,pheochromocytoma,succinate
MTG4

Congenital Hyperinsulinism Caused by Novel Homozygous K<sub>ATP</sub> Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families


Author(s): Amaratunga S, Hussein Tayeb T, Rozenkova K, Kucerova P, Pruhova S, Lebl J
Affiliated Institution / ERN: University Hospital Motol ;
Condition / Disease: Congenital isolated hyperinsulinism
Publication: Hormone Research in Paediatrics v93.1 p58-65 Year: 2020 ORPHAcode / other: ORPHA657
DOI: 10.1159/000506476 Keywords: ABCC8,Congenital hyperinsulinism,Consanguinity,KATP channel variants,KCNJ11
MTG3

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency


Author(s): Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Faisal Ahmed S, Balsamo A, Baronio F, Cannuccia A, Guven A, Guran T, Darendeliler F, Higham C, Bonfig W, de Vries L, Bachega TASS, Miranda MC, Mendonca BB, Iotova V, Korbonits M, Krone NP, Krone R, Lenzi A, Arlt W, Ross RJ, Isidori AM, Tomlinson JW
Affiliated Institution / ERN:
Condition / Disease: Primary adrenal insufficiency
Publication: The Journal of Clinical Endocrinology & Metabolism v105.1 p314-326 Year: 2020 ORPHAcode / other: ORPHA101958
DOI: 10.1210/clinem/dgz055 Keywords:
MTG1

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia


Author(s): Wasniewska MG, Morabito LA, Baronio F, Einaudi S, Salerno M, Bizzarri C, Russo G, Chiarito M, Grandone A, Guazzarotti L, Spinuzza A, Corica D, Ortolano R, Balsamo A, Abrigo E, Baldini Ferroli B, Alibrandi A, Capalbo D, Aversa T, Faienza MF
Affiliated Institution / ERN:
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Hormone Research in Paediatrics v93.3 p173-181 Year: 2020 ORPHAcode / other: ORPHA418
DOI: 10.1159/000509548 Keywords: 21-hydroxylase deficiency,Adult height,Growth and puberty,Nonclassical 21-hydroxylase deficiency,Severity of phenotype
MTG7

<b><i>Ubiquitin-Specific Protease 8</i></b> Mutant Corticotrope Adenomas Present Unique Secretory and Molecular Features and Shed Light on the Role of Ubiquitylation on ACTH Processing


Author(s): Sesta A, Cassarino M, Terreni M, Ambrogio A, Libera L, Bardelli D, Lasio G, Losa M, Pecori Giraldi F
Affiliated Institution / ERN:
Condition / Disease: Cushing disease
Publication: Neuroendocrinology v110.1-2 p119-129 Year: 2020 ORPHAcode / other: ORPHA96253
DOI: 10.1159/000500688 Keywords: ACTH-secreting adenomas,Cushing’s disease,Gene expression profiling,POMC,Ubiquitin-specific protease 8,Ubiquitylation
MTG6

Does an immobilization mask have added value during planning magnetic resonance imaging for stereotactic radiotherapy of brain tumours?


Author(s): Nagtegaal SH, van Lier AL, den Boer AA, Kramer MC, Fanetti G, Eppinga WS, Philippens ME, Verhoeff JJ, Seravalli E
Affiliated Institution / ERN:
Condition / Disease: Meningioma
Publication: Physics and Imaging in Radiation Oncology v13 p7-13 Year: 2020 ORPHAcode / other: ORPHA2495
DOI: 10.1016/j.phro.2020.02.003 Keywords: Brain tumours,Immobilization mask,MRI,Radiation oncology,Treatment planning
MTG6

Molecular Aging Markers in Patients with Klinefelter Syndrome


Author(s): Pohl E, Muschal S, Kliesch S, Zitzmann M, Rohayem J, Gromoll J, Laurentino S
Affiliated Institution / ERN:
Condition / Disease: Klinefelter Syndrome
Publication: Aging and disease v11.3 p470 Year: 2020 ORPHAcode / other: Q98.4
DOI: 10.14336/AD.2019.0801 Keywords: DNA methylation,Klinefelter syndrome,ageing,telomere length
MTG7

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia


Author(s): Wasniewska MG, Morabito LA, Baronio F, Einaudi S, Salerno M, Bizzarri C, Russo G, Chiarito M, Grandone A, Guazzarotti L, Spinuzza A, Corica D, Ortolano R, Balsamo A, Abrigo E, Baldini Ferroli B, Alibrandi A, Capalbo D, Aversa T, Faienza MF
Affiliated Institution / ERN:
Condition / Disease:
Publication: Hormone Research in Paediatrics v93.3 p173-181 Year: 2020 ORPHAcode / other:
DOI: 10.1159/000509548 Keywords: 21-hydroxylase deficiency,Adult height,Growth and puberty,Nonclassical 21-hydroxylase deficiency,Severity of phenotype

Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome


Author(s): Jonker L, Lebbink C, Jongmans M, Nievelstein R, Merks J, Nieveen van Dijkum E, Links T, Hoogerbrugge N, van Trotsenburg A, van Santen H
Affiliated Institution / ERN: University Hospital Florence ;
Condition / Disease: Follicular thyroid carcinoma
Publication: European Thyroid Journal v9.5 p234-242 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1159/000508872 Keywords: Differentiated thyroid carcinoma,PTEN hamartoma tumor syndrome, pediatric,Thyroid cancer genetics,Thyroid carcinoma surveillance program
MTG8

Surgery alone for papillary thyroid microcarcinoma is less costly and more effective than long term active surveillance


Author(s): Lin JF, Jonker PK, Cunich M, Sidhu SB, Delbridge LW, Glover AR, Learoyd DL, Aniss A, Kruijff S, Sywak MS
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: Surgery v167.1 p110-116 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1016/j.surg.2019.05.078 Keywords:
MTG8

Safety and Effectiveness of Omnitrope®, a Biosimilar Recombinant Human Growth Hormone: More Than 10 Years’ Experience from the PATRO Children Study


Author(s): Pfäffle R, Bidlingmaier M, Kreitschmann-Andermahr I, Land C, Partsch C, Schwab K, Sommer H, Backeljauw P, Kanumakala S, Loche S, Zouater H, Strasburger C
Affiliated Institution / ERN: Klinikum der Universität München ; University Hospital Essen ; Charité Universitätsmedizin Berlin ;
Condition / Disease: Growth Hormone deficiency
Publication: Hormone Research in Paediatrics v93.3 p154-163 Year: 2020 ORPHAcode / other: ORPHA631; ORPHA739; ORPHA881;
DOI: 10.1159/000508190 Keywords: Childhood,Growth hormone deficiency,Long-term treatment,Recombinant human growth hormone,Small for gestational age,Turner syndrome
MTG5

Malignancy risk in adults with growth hormone deficiency undergoing long-term treatment with biosimilar somatropin (Omnitrope®): data from the PATRO Adults study


Author(s): Beck-Peccoz P, Höybye C, Murray RD, Simsek S, Zabransky M, Zouater H, Stalla G
Affiliated Institution / ERN:
Condition / Disease: Growth hormone deficiency
Publication: Therapeutic Advances in Endocrinology and Metabolism v11 p204201882094337 Year: 2020 ORPHAcode / other: ORPHA631, ORPHA739, ORPHA881
DOI: 10.1177/2042018820943377 Keywords: adult growth hormone deficiency,incidence,malignancies,recombinant human growth hormone,risk
MTG5

Early postoperative stimulated serum thyroglobulin quantifies risk of recurrence in papillary thyroid cancer


Author(s): Jayasekara J, Jonker P, Lin JF, Engelsman AF, Wong M, Kruijff S, Aniss A, Learoyd D, Bligh RC, Glover A, Delbridge L, Sidhu S, Sywak M
Affiliated Institution / ERN:
Condition / Disease: Follicular thyroid carcinoma
Publication: Surgery v167.1 p40-45 Year: 2020 ORPHAcode / other: ORPHA146
DOI: 10.1016/j.surg.2019.06.048 Keywords:
MTG8

Somatic and germline mutations in the pathogenesis of pituitary adenomas


Author(s): Vandeva S, Daly AF, Petrossians P, Zacharieva S, Beckers A
Affiliated Institution / ERN:
Condition / Disease: Pituitary adenoma
Publication: European Journal of Endocrinology v181.6 pR235-R254 Year: 2019 ORPHAcode / other: ORPHA99408
DOI: 10.1530/EJE-19-0602 Keywords:
MTG6

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center


Author(s): Pacoricona Alfaro DL, Lemoine P, Ehlinger V, Molinas C, Diene G, Valette M, Pinto G, Coupaye M, Poitou-Bernert C, Thuilleaux D, Arnaud C, Tauber M
Affiliated Institution / ERN:
Condition / Disease: Prader-Willi syndrome
Publication: Orphanet Journal of Rare Diseases v14.1 Year: 2019 ORPHAcode / other: ORPHA739
DOI: 10.1186/s13023-019-1214-2 Keywords: Epidemiology,Mortality,Prader-Willi syndrome,Respiratory complications,Sudden death
MTG5

Criteria for First-Year Growth Response to Growth Hormone Treatment in Prepubertal Children With Growth Hormone Deficiency: Do They Predict Poor Adult Height Outcome?


Author(s): Straetemans S, De Schepper J, Thomas M, Tenoutasse S, Beauloye V, Rooman R
Affiliated Institution / ERN: Maastricht University Medical Center+ ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Ghent University Hospital ; University Hospitals Saint-Luc ;
Condition / Disease: Non-acquired pituitary hormone deficiency
Publication: Frontiers in Endocrinology v10 Year: 2019 ORPHAcode / other: ORPHA95488
DOI: 10.3389/fendo.2019.00792 Keywords: adult height outcome,children,first-year growth response criteria,growth hormone deficiency,growth hormone treatment
MTG6
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