Endo-ERN Publications Database
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
<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
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
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
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
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
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
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
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
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
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
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