Endo-ERN Publications Database
940 publication(s) found matching the search criteria
The Sun’s Vitamin in Adult Patients Affected by Prader–Willi Syndrome
Author(s):
Barrea L, Muscogiuri G, Pugliese G, Aprano S, de Alteriis G, Di Somma C, Colao A, Savastano S
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
Nutrients v12.4 p1132
Year:
2020
ORPHAcode / other:
ORPHA739
DOI:
10.3390/nu12041132
Keywords:
Prader–Willi syndrome (PWS),dietary vitamin D intake,fat mass,nutritionist,obesity,vitamin D
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
Author(s):
Bever Y, Brüggenwirth H, Wolffenbuttel K, Dessens A, Groenenberg I, Knapen M, De Baere E, Cools M, van Ravenswaaij-Arts C, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema S
Affiliated Institution / ERN:
Condition / Disease:
DSD
Publication:
Journal of Medical Genetics Published Online First: 17 April 2020. doi: 10.1136/jmedgenet-2019-106354
Year:
2020
ORPHAcode / other:
ORPHA90771; ORPHA2982; ORPHA98085; ORPHA325546;
Prognostic Significance of Thyroglobulin Antibodies in Differentiated Thyroid Cancer
Author(s):
Reverter JL, Rosas-Allende I, Puig-Jove C, Zafon C, Megia A, Castells I, Pizarro E, Puig-Domingo M, Granada ML
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Journal of Thyroid Research v2020 p1-6
Year:
2020
ORPHAcode / other:
ORPHA146
Bone Metabolism and Vitamin D Implication in Gastroenteropancreatic Neuroendocrine Tumors
Author(s):
Altieri B, Di Dato C, Modica R, Bottiglieri F, Di Sarno A, Pittaway JF, Martini C, Faggiano A, Colao A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Gastroenteropancreatic neuroendocrine neoplasm
Publication:
Nutrients v12.4 p1021
Year:
2020
ORPHAcode / other:
ORPHA100092
DOI:
10.3390/nu12041021
Keywords:
MEN1,bone,cortisol,miRNA,mineral bone density,neuroendocrine tumor,osteoporosis,serotonin,therapy,vitamin D
Serum 25-hydroxyvitamin D concentration in childhood and risk of islet autoimmunity and type 1 diabetes: the TRIGR nested case–control ancillary study
Author(s):
Miettinen ME, Niinistö S, Erlund I, Cuthbertson D, Nucci AM, Honkanen J, Vaarala O, Hyöty H, Krischer JP, Knip M, Virtanen SM
Affiliated Institution / ERN:
Condition / Disease:
Type 1 diabetes mellitus
Publication:
Diabetologia v63.4 p780-787
Year:
2020
ORPHAcode / other:
5A10
DOI:
https://doi.org/10.1007/s00125-019-05077-4
Keywords:
serum 25-hydroxyvitamin D (25OHD) concentration; islet autoimmunity; type 1 diabetes, children; postnatal vitamin D;
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
Author(s):
Malikova J, Kaci A, Dusatkova P, Aukrust I, Torsvik J, Vesela K, Kankova PD, Njølstad PR, Pruhova S, Bjørkhaug L
Affiliated Institution / ERN:
Motol and Homolka University Hospital ; Bergen Hospital Trust ;
Condition / Disease:
Monogenic diabetes
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.4 pe1377-e1386
Year:
2020
ORPHAcode / other:
ORPHA99885
DOI:
10.1210/clinem/dgaa051
Keywords:
ACMG classification,HNF1A-MODY,functional study,hepatocyte nuclear factor-1 alpha variants,reclassification
Clinico–pathological features, treatments and survival of malignant insulinomas: a multicenter study
Author(s):
Veltroni A, Cosaro E, Spada F, Fazio N, Faggiano A, Colao A, Pusceddu S, Zatelli MC, Campana D, Piovesan A, Pia A, Grossrubatscher EM, Filice A, Bianchi A, Razzore P, Toaiari M, Cingarlini S, Landoni L, Micciolo R, Davì MV
Affiliated Institution / ERN:
Condition / Disease:
Malignant insulinoma
Publication:
European Journal of Endocrinology v182.4 p439-446
Year:
2020
ORPHAcode / other:
ORPHA97279
Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial
Author(s):
Sävendahl L, Battelino T, Brod M, Højby Rasmussen M, Horikawa R, Juul RV, Saenger P, Furthner D, Piringer B, Auer-Hackenberg L, Schmitt K, Reitmayr M, Bronstein MD, Lima FSM, Wabitsch M, Posovszky C, Böttcher V, Mann A, Hershkovitz E, Haim A, Lowenthal N, Hamiel O, Levin SS, Mazor-Aronovitch K, Ben-Ami M, Shraga YL, Modan D, Gruber N, Phillip M, Lebenthal Y, Tenenbaum A, Eliakim A, Dror N, Haviv R, Zuckerman-Levin N, Shehadeh N, Givon L, Elemy A, Marji M, Gepstein V, Praveen VP, Aswin P, Abraham N, Khadgawat R, Gupta Y, Khadilkar V, Khadilkar A, Lad S, Horikawa R, Naiki Y, Ogiwara Y, Chiba Y, Fujisawa Y, Terada Y, Yoshida T, Kinjo K, Tsukamura A, Ida S, Etani Y, Shoji Y, Kawai M, Nakajima H, Mori J, Fukuhara S, Shigehara K, Morimoto H, Tsuma Y, Kawabe Y, Ota T, Kashimada K, Nakagawa R, Tsuji A, Nomura R, Takasawa K, Yamauchi T, Ishii K, Toda N, Ohkubo K, Yorifuji T, Hosokawa Y, Kawakita R, Hashimoto Y, Sakakibara A, Higuchi S, Soneda S, Ogushi K, Yatsuga S, Koga Y, Matsumoto T, Kitamura M, Sävendahl L, Nergårdh R, Battelino T, Tansek MZ, Turan S, Bereket A, Atay Z, Akbarzade A, Bolshova O, Tronko M, Vyshnevskaya O, Sprynchuk N, Lukashuk I, Muz N, Marchenko T, Chorna N, Konovalova M, Zelinska L, Silverman L, Cerame B, Cheruvu S, Chin D, Ebner-Lyon L, Fox M, Nicolette-Gentile M, Sabanosh K, Starkman H, Marshall I, Gangat M, Balachandar S, Backeljauw P, Dauber A, Tyzinski L, Saenger PH, Siliezar LZ, Velasco JP, Ross JL, Bardsley M, Kowal K, Kletter GB, Frazier BG, Garrison K
Affiliated Institution / ERN:
Condition / Disease:
Growth Hormone Deficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.4 pe1847-e1861
Year:
2020
ORPHAcode / other:
ORPHA101957
DOI:
10.1210/clinem/dgz310
Keywords:
growth hormone,growth hormone deficiency,growth hormone replacement therapy,long-acting growth hormone,somapacitan,treatment burden
Navigation Fractures, Bone Mineral Density, and Final Height in Craniopharyngioma Patients with a Follow-up of 16 Years
Author(s):
van Santen SS, Olsson DS, van den Heuvel-Eibrink MM, Wijnen M, Hammarstrand C, Janssen JAMJL, Johannsson G, van der Lely AJ, Neggers SJCMM
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Sahlgrenska University Hospital ; University Medical Center Utrecht ;
Condition / Disease:
Craniopharyngioma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.4 pe1397-e1407
Year:
2020
ORPHAcode / other:
ORPHA54595
DOI:
10.1210/clinem/dgz279
Keywords:
bone health,bone mineral density,craniopharyngioma,final height,fractures
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype
Author(s):
Parween S, Fernández-Cancio M, Benito-Sanz S, Camats N, Rojas Velazquez MN, López-Siguero J, Udhane SS, Kagawa N, Flück CE, Audí L, Pandey AV
Affiliated Institution / ERN:
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.4 pe1272-e1290
Year:
2020
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgaa076
Keywords:
CY19A1,CYP17A1,CYP21A2,POR,PORD,congenital adrenal hyperplasia
Association between biochemical control and comorbidities in patients with acromegaly: an Italian longitudinal retrospective chart review study
Author(s):
Colao A, Grasso LFS, Di Cera M, Thompson-Leduc P, Cheng WY, Cheung HC, Duh MS, Neary MP, Pedroncelli AM, Maamari R, Pivonello R
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v43.4 p529-538
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-019-01138-y
Keywords:
Acromegaly,Comorbidity,Growth hormone,Insulin-like growth factor I,Pituitary diseases
Is less always more in a national well-differentiated thyroid cancer population?
Author(s):
Metman M, Lončar I, Kruijff S, Engelsman A, van Ginhoven T
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
European Journal of Surgical Oncology v46.4 p709-711
Year:
2020
ORPHAcode / other:
ORPHA146
Diagnosis, treatment and follow-up of patients with acromegaly in a clinical practice setting in Spain: the ACROPRAXIS program Delphi survey
Author(s):
de Pablos-Velasco P, Venegas EM, Álvarez Escolá C, Fajardo C, de Miguel P, González N, Bernabéu I, Valdés N, Paja M, Díez JJ, Biagetti B
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Pituitary v23.2 p129-139
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-019-01012-3
Keywords:
Acromegaly,Clinical practice,Guidelines,Patient management
Surgical indications for pituitary tumors during pregnancy: a literature review
Author(s):
Graillon T, Cuny T, Castinetti F, Courbière B, Cousin M, Albarel F, Morange I, Bruder N, Brue T, Dufour H
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
Pituitary v23.2 p189-199
Year:
2020
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-019-01004-3
Keywords:
Craniopharyngioma,Meningioma,Pituitary adenoma,Pituitary cyst,Pregnancy,Surgery
Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis
Author(s):
Passone CdGB, Franco RR, Ito SS, Trindade E, Polak M, Damiani D, Bernardo WM
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
BMJ Paediatrics Open v4.1 pe000630
Year:
2020
ORPHAcode / other:
ORPHA739
Serum 25-hydroxyvitamin D concentration in childhood and risk of islet autoimmunity and type 1 diabetes: the TRIGR nested case–control ancillary study
Author(s):
Miettinen ME, Niinistö S, Erlund I, Cuthbertson D, Nucci AM, Honkanen J, Vaarala O, Hyöty H, Krischer JP, Knip M, Virtanen SM
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Diabetologia v63.4 p780-787
Year:
2020
ORPHAcode / other:
DOI:
10.1007/s00125-019-05077-4
Keywords:
25-Hydroxyvitamin D,Islet autoimmunity,Type 1 diabetes,Vitamin D
Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome
Author(s):
Anna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony P Goldstone, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Muriel Coupaye, Sjoerd A A Van Den Berg, Aart Jan Van Der Lely, Laura C G De Graaff
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Karolinska University Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Prader-Willi Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism 2020 Jul 1;105(7):e2563-e2571. doi: 10.1210/clinem/dgaa168
Year:
2020
ORPHAcode / other:
ORPHA739
DOI:
10.1210/clinem/dgaa168
Keywords:
Prader–Willi syndrome; central adrenal insufficiency; hypocortisolism; insulin tolerance test; metyrapone test;
Calcitonin testing for detection of medullary thyroid cancer in people with thyroid nodules
Author(s):
Verbeek HH, de Groot JWB, Sluiter WJ, Muller Kobold AC, van den Heuvel ER, Plukker JT, Links TP
Affiliated Institution / ERN:
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Cochrane Database of Systematic Reviews v2020.3
Year:
2020
ORPHAcode / other:
ORPHA1332
Sexual Dimorphism in Cellular and Molecular Features in Human ACTH-Secreting Pituitary Adenomas
Author(s):
Pecori Giraldi F, Cassarino MF, Sesta A, Terreni M, Lasio G, Losa M
Affiliated Institution / ERN:
Condition / Disease:
Cushing disease
Publication:
Cancers v12.3 p669
Year:
2020
ORPHAcode / other:
ORPHA96253
DOI:
10.3390/cancers12030669
Keywords:
ACTH-secreting adenomas,Cushing’s disease,gender,gene expression profiling,neuroendocrine tumours
Oligogenic Origin of Differences of Sex Development in Humans
Author(s):
Camats N, Flück CE, Audí L
Affiliated Institution / ERN:
Condition / Disease:
DSD
Publication:
International Journal of Molecular Sciences v21.5 p1809
Year:
2020
ORPHAcode / other:
ORPHA90771
DOI:
10.3390/ijms21051809
Keywords:
46,XX DSD,46,XY DSD,DSD,HTS,differences of sex development,high throughput sequencing techniques,hypospadias,oligogenic disease,oligogenicity
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
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:
Motol and Homolka University Hospital ;
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
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
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
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
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
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