Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome
Author(s):
Zitzmann M, Rohayem J
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics v184.2 p302-312
Year:
2020
ORPHAcode / other:
LD50.31
DOI:
10.1002/ajmg.c.31786
Keywords:
47,XXY,Klinefelter syndrome,children with Klinefelter syndrome,fertility in Klinefelter syndrome,hypogonadism in Klinefelter syndrome
Germ cell loss in Klinefelter syndrome: When and why?
Author(s):
Willems M, Gies I, Van Saen D
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics v184.2 p356-370
Year:
2020
ORPHAcode / other:
Q98.4
DOI:
10.1002/ajmg.c.31787
Keywords:
Klinefelter syndrome,X-linked gene expression,aneuploidy,germ cell loss,infertility
Characterization of the stem cell niche components within the seminiferous tubules in testicular biopsies of Klinefelter patients
Author(s):
Van Saen D, Vloeberghs V, Gies I, De Schepper J, Tournaye H, Goossens E
Affiliated Institution / ERN:
Condition / Disease:
Klinefelter Syndrome
Publication:
Fertility and Sterility v113.6 p1183-1195.e3
Year:
2020
ORPHAcode / other:
Q98.4
DOI:
10.1016/j.fertnstert.2020.01.018
Keywords:
Extracellular matrix,Klinefelter syndrome,infertility,peritubular myoid cells,tubular integrity
T2-signal intensity, SSTR expression, and somatostatin analogs efficacy predict response to pasireotide in acromegaly
Author(s):
Coopmans EC, Schneiders JJ, El-Sayed N, Erler NS, Hofland LJ, van der Lely A, Petrossians P, Potorac J, Muhammad A, Neggers SJCMM
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Liège ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v182.6 p595-605
Year:
2020
ORPHAcode / other:
ORPHA963
Thyroid gland changes in patients with acromegaly
Author(s):
Emil Natchev, Silvia Vandeva, Roussanka Kovatcheva, Georgi Kirilov, Krasimir Kalinov, Sabina Zacharieva
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Arch Endocrinol Metab 64(3):269-275
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.20945/2359-3997000000247
Keywords:
Thyroid volume; acromegaly; disease activity; secondary hypothyroidism; nodular goiter;
A Randomized, Controlled Trial of Liraglutide for Adolescents with Obesity
Author(s):
Kelly AS, Auerbach P, Barrientos-Perez M, Gies I, Hale PM, Marcus C, Mastrandrea LD, Prabhu N, Arslanian S
Affiliated Institution / ERN:
Condition / Disease:
Obesity
Publication:
New England Journal of Medicine v382.22 p2117-2128
Year:
2020
ORPHAcode / other:
5B81.00
Eucaloric Very-Low-Carbohydrate Ketogenic Diet in Acromegaly Treatment
Author(s):
Coopmans EC, Berk KA, El-Sayed N, Neggers SJ, van der Lely AJ
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
New England Journal of Medicine v382.22 p2161-2162
Year:
2020
ORPHAcode / other:
ORPHA963
IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity
Author(s):
Kaleviste E, Rühlemann M, Kärner J, Haljasmägi L, Tserel L, Org E, Trebušak Podkrajšek K, Battelino T, Bang C, Franke A, Peterson P, Kisand K
Affiliated Institution / ERN:
ERN BOND ; ERN BOND ;
Condition / Disease:
APECED
Publication:
Frontiers in Immunology v11
Year:
2020
ORPHAcode / other:
ORPHA3453;
Primary sellar melanocytoma: pathological, clinical and treatment review
Author(s):
Albano L, Losa M, Barzaghi LR, Spatola G, Panni P, Terreni MR, Mortini P
Affiliated Institution / ERN:
Condition / Disease:
Acquired pituitary hormone deficiency
Publication:
Journal of Endocrinological Investigation v43.5 p575-585
Year:
2020
ORPHAcode / other:
ORPHA95502
DOI:
10.1007/s40618-019-01158-8
Keywords:
Leptomeningeal melanocytes,Pituitary tumor,Primary melanocytic brain tumors,Sellar melanocytoma,Transsphenoidal surgery
Thigh Muscle Fat Infiltration Is Associated With Impaired Physical Performance Despite Remission in Cushing’s Syndrome
Author(s):
Martel-Duguech L, Alonso-Jiménez A, Bascuñana H, Díaz-Manera J, Llauger J, Nuñez-Peralta C, Biagetti B, Montesinos P, Webb SM, Valassi E
Affiliated Institution / ERN:
Condition / Disease:
Cushing’s Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.5 pe2039-e2049
Year:
2020
ORPHAcode / other:
ORPHA553
DOI:
10.1210/clinem/dgz329
Keywords:
Cushing’s syndrome,fatty infiltration,muscle,muscle performance
Growth Hormone Therapy Does Not Increase the Risk of Craniopharyngioma and Nonfunctioning Pituitary Adenoma Recurrence
Author(s):
Losa M, Castellino L, Pagnano A, Rossini A, Mortini P, Lanzi R
Affiliated Institution / ERN:
Condition / Disease:
Craniopharyngioma, non-functioning pituitary adenoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.5 p1573-1580
Year:
2020
ORPHAcode / other:
ORPHA54595, ORPHA91349
DOI:
10.1210/clinem/dgaa089
Keywords:
growth hormone deficiency,hypopituitarism,pituitary neoplasm,pituitary surgery
Hypophosphataemic Rickets: Similar Phenotype of Different Diseases
Author(s):
de la Cerda-Ojeda F, González-Rodríguez JD, Madariaga L, Martínez-Díaz-Guerra G, Matoses-Ruipérez ML
Affiliated Institution / ERN:
Condition / Disease:
Hypophosphataemic rickets
Publication:
Advances in Therapy v37.S2 p80-88
Year:
2020
ORPHAcode / other:
ORPHA437
DOI:
10.1007/s12325-019-01182-3
Keywords:
Cutaneous skeletal hypophosphataemia syndrome,Differential diagnosis,Hypophosphataemic rickets,McCune–Albright syndrome,Oncogenic osteomalacia,Orthopaedics
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria
Author(s):
de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, Biermasz NR, Hiort O, Pereira AM
Affiliated Institution / ERN:
Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Universitätsklinikum Schleswig-Holstein ;
Condition / Disease:
ERNs
Publication:
European Journal of Endocrinology Volume 183, 2020, Issue 2
Year:
2020
ORPHAcode / other:
ORPHA97978
DOI:
10.1530/EJE-20-0197
Keywords:
European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
New Epidemiological, Clinical and Economic Data for Patients With Acromegaly in Bulgaria
Author(s):
Kamusheva M, Vandeva S, Mitov K, Rusenova Y, Elenkova A, Zacharieva S, Mitkova Z, Tachkov K, Dimitrova M, Doneva M, Tcharaktchiev D, Petrova G
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Frontiers in Public Health v8
Year:
2020
ORPHAcode / other:
ORPHA963
Acromegaly and joint pain: is there something more? A cross-sectional study to evaluate rheumatic disorders in growth hormone secreting tumor patients
Author(s):
N Prencipe, M Scarati, T Manetta, A M Berton, S Parisi, C Bona, M Parasiliti-Caprino, M C Ditto, V Gasco, E Fusaro & S Grottoli
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation 2020 43:1661–1667
Year:
2020
ORPHAcode / other:
ORPHA963
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;
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
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
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:
University Hospital Motol ; 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