Endo-ERN Publications Database
890 publication(s) found matching the search criteria
Streptozocin/5-fluorouracil chemotherapy of pancreatic neuroendocrine tumours in the era of targeted therapy
Author(s):
Lahner H, Mathew A, Klocker AL, Unger N, Theysohn J, Rekowski J, Jöckel K, Theurer S, Schmid KW, Herrmann K, Führer D
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Pancreatic neuroendocrine tumour
Publication:
Endocrine v75.1 p293-302
Year:
2022
ORPHAcode / other:
ORPHA97253
DOI:
10.1007/s12020-021-02859-y
Keywords:
5-fluorouracil,Objective response,Pancreatic neuroendocrine tumor,Streptozocin,Survival
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity
Author(s):
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ; AOU Federico II - Naples ; Klinikum der Universität München ;
Condition / Disease:
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.1 pe401-e416
Year:
2022
ORPHAcode / other:
DOI:
10.1210/clinem/dgab550
Keywords:
GHR 6Ω pseudoexon; growth hormone insensitivity; severe primary IGF-1 deficiency; short stature
State of the art and future directions in the systemic treatment of medullary thyroid cancer
Author(s):
Jager EC, Broekman KE, Kruijff S, Links TP
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Current Opinion in Oncology v34.1 p1-8
Year:
2022
ORPHAcode / other:
ORPHA1332
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa
Author(s):
Gordon DM, Beckers P, Castermans E, Neggers SJCMM, Rostomyan L, Bours V, Petrossians P, Dideberg V, Beckers A, Daly AF
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Liège ;
Condition / Disease:
Pheochromocytoma-paraganglioma
Publication:
Endocrine Connections v11.1
Year:
2022
ORPHAcode / other:
ORPHA573163
DOI:
10.1530/EC-21-0560
Keywords:
Dutch,Netherlands,SDHB,South Africa,founder mutation,paraganglioma,pheochromocytoma
The Influence of DXA Hardware, Software, Reference Population and Software Analysis Settings on the Bone Mineral Density and T-Score Relationship
Author(s):
Lundstam K, Godang K, Pretorius M, Markwardt P, Hellström M, Bollerslev J, Heck A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Clinical Densitometry v25.1 p24-33
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.jocd.2021.07.002
Keywords:
BMD,hardware,reference population,settings,software,t-score
Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors
Author(s):
Schröder MAM, Turcu AF, O’Day P, van Herwaarden AE, Span PN, Auchus RJ, Sweep FCGJ, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.1 pe272-e280
Year:
2022
ORPHAcode / other:
ORPHA418
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
Author(s):
Mooij CF, Tacke CE, van Albada ME, Barthlen W, Bikker H, Mohnike K, Oomen MW, van Trotsenburg AP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Amsterdam UMC ; University Medical Center Groningen ; Universitätsklinikum Magdeburg ;
Condition / Disease:
Congenital isolated hyperinsulinism
Publication:
Annals of Pediatric Endocrinology & Metabolism v26.4 p278-283
Year:
2021
ORPHAcode / other:
ORPHA657
DOI:
10.6065/apem.2142010.005
Keywords:
Congenital hyperinsulinism,Pancreatectomy,Pasireotide,Somatostatin analogue
Multiple hormonal and metabolic deficiency syndrome predicts outcome in heart failure: the T.O.S.CA. Registry
Author(s):
Cittadini A, Salzano A, Iacoviello M, Triggiani V, Rengo G, Cacciatore F, Maiello C, Limongelli G, Masarone D, Perticone F, Cimellaro A, Perrone Filardi P, Paolillo S, Mancini A, Volterrani M, Vriz O, Castello R, Passantino A, Campo M, Modesti PA, De Giorgi A, Monte IP, Puzzo A, Ballotta A, D’Assante R, Arcopinto M, Gargiulo P, Sciacqua A, Bruzzese D, Colao A, Napoli R, Suzuki T, Eagle KA, Ventura HO, Marra AM, Bossone E
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Hormone deficiency
Publication:
European Journal of Preventive Cardiology v28.15 p1691-1700
Year:
2021
ORPHAcode / other:
5B3Z
DOI:
10.1093/eurjpc/zwab020
Keywords:
Anabolic deficiency,Heart failure,Hormones,Multiple hormonal and metabolic deficiency syndrome,Prognosis,TOSCA
Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients
Author(s):
Frontino G, Raouf T, Canarutto D, Tirelli E, Di Tonno R, Rigamonti A, Cascavilla ML, Baldoli C, Scotti R, Leocani L, Huang S, Meschi F, Barera G, Broccoli V, Rossi G, Torchio S, Chimienti R, Bonfanti R, Piemonti L
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Wolfram syndrome
Publication:
Frontiers in Pediatrics v9
Year:
2021
ORPHAcode / other:
ORPHA3463
DOI:
10.3389/fped.2021.755365
Keywords:
GLP1 receptor agonists,Wolfram syndrome,Wolfram syndrome 1 (WFS1),liraglutide,monogenic diabetes,neurodegeneration
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series
Author(s):
De Pellegrin M, Brogioni L, Laskow G, Barera G, Pajno R, Osimani S, Russo S, Marcucci L
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Beckwith-Wiedemann Syndrome
Publication:
Children v8.12 p1152
Year:
2021
ORPHAcode / other:
ORPHA116
DOI:
10.3390/children8121152
Keywords:
BWS,LLD,lateralized overgrowth,leg length discrepancy,temporary epiphysiodesis
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
Author(s):
Berger A, Rustemeier A, Göbel J, Kadioglu D, Britz V, Schubert K, Mohnike K, Storf H, Wagner TOF
Affiliated Institution / ERN:
São João University Hospital(CHUSJ) ;
Condition / Disease:
Rare endocrine conditions
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA97978
Technical aspects of paediatric robotic pancreatic enucleation based on a case of an insulinoma
Author(s):
Schulte am Esch J, Krüger M, Barthlen W, Förster C, Mohnike K, Empting S, Benhidjeb T, Vossschulte H
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ;
Condition / Disease:
Insulinoma
Publication:
The International Journal of Medical Robotics and Computer Assisted Surgery v17.6
Year:
2021
ORPHAcode / other:
ORPHA97279
DOI:
10.1002/rcs.2317
Keywords:
abdominal,augmented reality,computer-assisted surgery,digestive system,gastrointestinal,general surgery,hepato-pancreato-biliary,imaged guided surgery,insulinoma,minimal invasive surgery,paediatric surgery,pancreas,pancreatectomy,pancreatic,preoperative planning,resection,robotic visceral surgery,ultrasound
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Author(s):
Javaid MK, Mordenti M, Boarini M, Sangiorgi L, Westerheim I, Alves I, Skarberg RT, Appelman-Dijkstra NM, Grasemann C
Affiliated Institution / ERN:
Leiden University Medical Center ; Katholisches Klinikum Bochum ;
Condition / Disease:
Rare mineral conditions
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA68415
DOI:
10.1186/s13023-021-02069-9
Keywords:
Natural History,Osteogenesis imperfecta,Rare bone and mineral conditions,Rare disease registries,Survey
Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study
Author(s):
Marcucci G, Altieri P, Benvenga S, Bondanelli M, Camozzi V, Cetani F, Cianferotti L, Duradoni M, Fossi C, degli Uberti E, Famà F, Mantovani G, Marcocci C, Masi L, Pagotto U, Palermo A, Parri S, Ruggeri RM, Zatelli MC, Brandi ML
Affiliated Institution / ERN:
University Hospital Florence ; AOU polyclinic "G.Martino" of Messina ; AOU - Ferrara ; University Hospital of Padova ; AOU Pisan ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Hypoparathyroidism and pseudohypoparathyroidism
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA181405, ORPHA97593
DOI:
10.1186/s13023-021-02053-3
Keywords:
Breastfeeding,Calcitriol,Calcium carbonate,Hypocalcemia,Hypoparathyroidism,Miscarriages,Pregnancy,Preterm birth,Pseudohypoparathyroidism,Treatment
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome: a multicentre, retrospective, cohort study
Author(s):
Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq A, Deméocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, de Herder W, Pattou F, Tétreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenický P
Affiliated Institution / ERN:
Hôpital Bicêtre ; Evangelismos General Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ; University Hospital of Padova ; Erasmus MC: University Medical Center Rotterdam ; CHU de Toulouse ; University Hospitals Saint-Luc ;
Condition / Disease:
Cushing syndrome due to bilateral macronodular adrenocortical disease
Publication:
The Lancet Diabetes & Endocrinology v9.12 p813-824
Year:
2021
ORPHAcode / other:
ORPHA189427
Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings
Author(s):
Yeste Fernández D, Vega Amenabar E, Coma Muñoz A, Arciniegas Vallejo L, Clemente León M, Planes-Conangla M, Iglesias Felip C, Sábado Álvarez C, Guillén Burrieza G, Campos-Martorell A
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Endocrinología, Diabetes y Nutrición (English ed.) v68.10 p728-734
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1016/j.endien.2020.11.006
Keywords:
Adolescencia,Adolescent,Bethesda classification,Citología,Clasificación Bethesda,Cytology,Cáncer de tiroides,EU-TIRADS,Ecografía de tiroides,FNAB,Nódulos tiroideos,PAAF,Thyroid cancer,Thyroid nodule,Thyroid ultrasound
Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients
Author(s):
Coupaye M, Laurier V, Benvegnu G, Poitou C, Faucher P, Mosbah H, Diene G, Pinto G, Briceño LG, Merrien C, Toyos AC, Montastier E, Tauber M, Mourre F
Affiliated Institution / ERN:
CHU de Toulouse ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA739
DOI:
10.1186/s13023-021-01949-4
Keywords:
COVID-19,Obesity,Oxytocin,Prader-Willi syndrome,SARS-CoV-2
Use of Salivary Iodine Concentrations to Estimate the Iodine Status of Adults in Clinical Practice
Author(s):
Dekker BL, Touw DJ, van der Horst-Schrivers ANA, Vos MJ, Links TP, Dijck-Brouwer DJ, Muller Kobold AC
Affiliated Institution / ERN:
University Medical Center Groningen ; Maastricht University Medical Center+ ;
Condition / Disease:
Iodine status
Publication:
The Journal of Nutrition v151.12 p3671-3677
Year:
2021
ORPHAcode / other:
DOI:
10.1093/jn/nxab303
Keywords:
iodine intake,salivary iodine,salivary protein,salivary urea,urinary iodine
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Author(s):
Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel J, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Affiliated Institution / ERN:
Hospital Universitario Cruces ;
Condition / Disease:
Congenital endocrine conditions
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA631, ORPHA238666, ORPHA2614, ORPHA562, ORPHA99429, ORPHA1772
Paediatric Cushing’s disease: Epidemiology, pathogenesis, clinical management and outcome
Author(s):
Ferrigno R, Hasenmajer V, Caiulo S, Minnetti M, Mazzotta P, Storr HL, Isidori AM, Grossman AB, De Martino MC, Savage MO
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Cushing disease
Publication:
Reviews in Endocrine and Metabolic Disorders v22.4 p817-835
Year:
2021
ORPHAcode / other:
ORPHA96253
Oral octreotide capsules for the treatment of acromegaly: comparison of 2 phase 3 trial results
Author(s):
Labadzhyan A, Nachtigall LB, Fleseriu M, Gordon MB, Molitch M, Kennedy L, Samson SL, Greenman Y, Biermasz N, Bolanowski M, Haviv A, Ludlam W, Patou G, Strasburger CJ
Affiliated Institution / ERN:
Leiden University Medical Center ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Acromegaly
Publication:
Pituitary v24.6 p943-953
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-021-01163-2
Keywords:
Acromegaly,Growth hormone,IGF-I,Oral octreotide,Somatostatin analogs,Somatostatin receptor ligands
Long-term male fertility after treatment with radioactive iodine for differentiated thyroid carcinoma
Author(s):
Nies M, Arts EGJM, van Velsen EFS, Burgerhof JGM, Muller Kobold AC, Corssmit EPM, Netea-Maier RT, Peeters RP, van der Horst-Schrivers ANA, Cantineau AEP, Links TP
Affiliated Institution / ERN:
University Hospital Essen ; Universitätsklinikum Schleswig-Holstein ; Universitätsklinikum Tübingen ; Sestre milosrdnice University Hospital Center ; Ulm University Medical Center ;
Condition / Disease:
Differentiated Thyroid Carcinoma
Publication:
European Journal of Endocrinology v185.6 p775-782
Year:
2021
ORPHAcode / other:
ORPHA142
The first European consensus on principles of management for achondroplasia
Author(s):
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K
Affiliated Institution / ERN:
IRCCS Istituto Giannina Gaslini, Genova ; UZ Antwerpen ; Universitätsklinikum Magdeburg ; ERN BOND ;
Condition / Disease:
Achondroplasia
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA15
DOI:
10.1186/s13023-021-01971-6
Keywords:
Achondroplasia,European Achondroplasia Forum,Guiding principles
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
Author(s):
Bezdicka M, Kleiblova P, Soucek J, Borecka M, El-Lababidi E, Smrz D, Rataj M, Sumnik Z, Malikova J, Soucek O
Affiliated Institution / ERN:
University Hospital Motol ; General University Hospital in Prague ;
Condition / Disease:
Familial hyperthyroidism due to mutations in TSH receptor
Publication:
Hormones v20.4 p803-812
Year:
2021
ORPHAcode / other:
ORPHA424
DOI:
10.1007/s42000-021-00299-x
Keywords:
Activating TSHR pathogenic variant,Case report,Familial non-autoimmune hyperthyroidism,Functional study,Radioiodine ablative treatment,Repeated thyroid surgery
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Author(s):
Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Rare disorder with hypergonadotropic hypogonadism
Publication:
Human Genetics v140.12 p1733-1751
Year:
2021
ORPHAcode / other:
ORPHA181441
Sunitinib-Induced Hypothyroidism and Survival in Pancreatic Neuroendocrine Tumors
Author(s):
Mathew A, Führer D, Lahner H
Affiliated Institution / ERN:
ERN BOND ; University Hospital Essen ;
Condition / Disease:
Neuroendocrine tumours
Publication:
Hormone and Metabolic Research v53.12 p794-800
Year:
2021
ORPHAcode / other:
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Author(s):
Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JR
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Achondroplasia
Publication:
Genetics in Medicine v23.12 p2443-2447
Year:
2021
ORPHAcode / other:
ORPHA15
Sex Bias in Differentiated Thyroid Cancer
Author(s):
Suteau V, Munier M, Briet C, Rodien P
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
International Journal of Molecular Sciences v22.23 p12992
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.3390/ijms222312992
Keywords:
estrogens,oncogenes,reactive oxygen species (ROS),sex bias,thyroid cancer
Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia
Author(s):
Katkevica A, Kreile M, Grinfelde I, Taurina G, Micule I, Dzivite-Krisane I, Smite-Laguna A, Malniece I
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Case Reports in Medicine v2021 p1-5
Year:
2021
ORPHAcode / other:
The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry
Author(s):
Ali SR, Bryce J, Kodra Y, Taruscio D, Persani L, Ahmed SF
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Leiden University Medical Center ;
Condition / Disease:
Rare disease registries
Publication:
International Journal of Environmental Research and Public Health v18.22 p11968
Year:
2021
ORPHAcode / other:
ORPHA97978