Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Parathyroid Function Saving Total Thyroidectomy Using Autofluorescence and Quantified Indocyanine Green Angiography
Author(s):
Noltes ME, Metman MJ, Jansen L, Peeperkorn EW, Engelsman AF, Kruijff S
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Thyroid carcinoma
Publication:
VideoEndocrinology v9.1
Year:
2022
ORPHAcode / other:
ORPHA100088
DOI:
10.1089/ve.2021.0008
Keywords:
ICG angiography,autofluorescence,hypoparathyroidism,parathyroid,total thyroidectomy
Artificial Sepsis: Think Twice Before Pausing Therapy
Author(s):
Mathew A, Führer D, Lahner H
Affiliated Institution / ERN:
ERN BOND ; University Hospital Essen ;
Condition / Disease:
Pancreatic neuroendocrine tumour
Publication:
The American Journal of Medicine v135.3 pe73-e74
Year:
2022
ORPHAcode / other:
ORPHA97253
Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients
Author(s):
Cooiman MI, Alsters SIM, Duquesnoy M, Hazebroek EJ, Meijers-Heijboer HJ, Chahal H, Le Beyec-Le Bihan J, Clément K, Soula H, Blakemore AI, Poitou C, van Haelst MM
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Rare Genetic Obesity
Publication:
Obesity Surgery v32.3 p837-844
Year:
2022
ORPHAcode / other:
ORPHA77828
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency
Author(s):
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Primary Ovarian Insufficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.3 p685-714
Year:
2022
ORPHAcode / other:
ORPHA95709
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
Author(s):
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken A, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Semmelweis University ; Universitätsklinikum Düsseldorf ; AO City of Health and Science - Turin ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ; Clinical Psychiatric Hospital "Alexandru Obregia" ; CHU d'Angers ;
Condition / Disease:
MCT8 deficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.3 pe1136-e1147
Year:
2022
ORPHAcode / other:
ORPHA59
DOI:
10.1210/clinem/dgab750
Keywords:
AHDS,Allan-Herndon-Dudley syndrome,MCT8 deficiency,T3 analogue,thyromimetic drug
The Accuracy of Simple and Adjusted Aldosterone Indices for Assessing Selectivity and Lateralization of Adrenal Vein Sampling in the Diagnosis of Primary Aldosteronism Subtypes
Author(s):
Parasiliti-Caprino M, Bioletto F, Ceccato F, Lopez C, Bollati M, Di Carlo MC, Voltan G, Rossato D, Giraudo G, Scaroni C, Ghigo E, Maccario M
Affiliated Institution / ERN:
Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ; AO City of Health and Science - Turin ; University Hospital of Padova ;
Condition / Disease:
Primary aldosteronism
Publication:
Frontiers in Endocrinology v13
Year:
2022
ORPHAcode / other:
ORPHA181415
DOI:
10.3389/fendo.2022.801529
Keywords:
adrenal glands,adrenal tumor,adrenalectomy,aldosterone,cortisol,endocrine hypertension,hypokalemia,secondary hypertension
Atrial Fibrillation and Aortic Ectasia as Complications of Primary Aldosteronism: Focus on Pathophysiological Aspects
Author(s):
Bollati M, Lopez C, Bioletto F, Ponzetto F, Ghigo E, Maccario M, Parasiliti-Caprino M
Affiliated Institution / ERN:
Condition / Disease:
Primary aldosteronism
Publication:
International Journal of Molecular Sciences v23.4 p2111
Year:
2022
ORPHAcode / other:
ORPHA181415
DOI:
10.3390/ijms23042111
Keywords:
adrenal glands,aldosterone,aortic ectasia,atrial fibrillation,cardiovascular risk,endocrine hypertension,hypokalemia,primary aldosteronism,secondary hypertension
Pubertal development in 46,XY patients with NR5A1 mutations
Author(s):
Mönig I, Schneidewind J, Johannsen TH, Juul A, Werner R, Lünstedt R, Birnbaum W, Marshall L, Wünsch L, Hiort O
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease:
Disorder of gonadal development
Publication:
Endocrine v75.2 p601-613
Year:
2022
ORPHAcode / other:
ORPHA325118
DOI:
10.1007/s12020-021-02883-y
Keywords:
Differences of sex development,NR5A1 mutation,Pubertal development,Virilization
Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes
Author(s):
Dusatkova P, Pavlikova M, Spirkova A, Elblova L, Zdarska DJ, Rozenkova K, Hron J, Sumnik Z, Cinek O, Lebl J, Pruhova S
Affiliated Institution / ERN:
Condition / Disease:
Monogenic diabetes
Publication:
Experimental and Clinical Endocrinology & Diabetes v130.02 p85-93
Year:
2022
ORPHAcode / other:
ORPHA99885
Función tiroidea en el recién nacido prematuro con edad gestacional igual o menor a 32 semanas
Author(s):
Montaner-Ramón A, Hernández-Pérez S, Campos-Martorell A, Ballesta-Anguiano M, Clemente-León M, Castillo- Salinas F
Affiliated Institution / ERN:
Condition / Disease:
Thyroid dysfunction and prematurity
Publication:
Anales de Pediatría v96.2 p130-137
Year:
2022
ORPHAcode / other:
KB64
DOI:
10.1016/j.anpedi.2020.10.023
Keywords:
Función tiroidea,Pequeño para la edad gestacional,Prematuridad,Prematurity,Small for gestational age,Thyroid function,Thyrotropin,Thyroxine,Tirotropina,Tiroxina
Congenital Micropenis: Etiology And Management
Author(s):
Stancampiano MR, Suzuki K, O’Toole S, Russo G, Yamada G, Faisal Ahmed S
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; Leiden University Medical Center ;
Condition / Disease:
Micropenis
Publication:
Journal of the Endocrine Society v6.2
Year:
2022
ORPHAcode / other:
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
Author(s):
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau M, Touraine P, Jaillard S, Sinclair AH
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Premature ovarian insufficiency
Publication:
European Journal of Human Genetics v30.2 p219-228
Year:
2022
ORPHAcode / other:
ORPHA95710
Glucose control in home-isolated adults with type 1 diabetes affected by COVID-19 using continuous glucose monitoring
Author(s):
Longo M, Scappaticcio L, Petrizzo M, Castaldo F, Sarnataro A, Forestiere D, Caiazzo F, Bellastella G, Maiorino MI, Capuano A, Esposito K
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.2 p445-452
Year:
2022
ORPHAcode / other:
Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors
Author(s):
Altieri B, Barrea L, Modica R, Bottiglieri F, de Cicco F, Muscogiuri G, Circelli L, Savarese G, Di Somma C, Savastano S, Colao A, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Endocrine v75.2 p623-634
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s12020-021-02869-w
Keywords:
25(OH)D,MEN1,Neuroendocrine tumor,PTH,Prognosis,Somatostatin analogs,Vitamin D
Pituitary Society Delphi Survey: An international perspective on endocrine management of patients undergoing transsphenoidal surgery for pituitary adenomas
Author(s):
Tritos NA, Fazeli PK, McCormack A, Mallea-Gil SM, Pineyro MM, Christ-Crain M, Frara S, Labadzhyan A, Ioachimescu AG, Shimon I, Takahashi Y, Gurnell M, Fleseriu M, Bancos I, Bidlingmaier M, Biermasz N, Boguszewski CL, Brzana J, Carmichael J, Chanson P, Drincic A, Eisenberg Y, Fukuoka H, Gadelha M, Ghalib L, Gordon M, Greenman Y, Guarda F, Hinojosa-Amaya M, Ho K, Ilie M, Karavitaki N, Katznelson L, Keleştimur F, Lacroix A, Langlois F, Lim D, Neggers S, Niculescu D, Petersenn S, Pivonello R, Raverot G, Ross R, Salvatori R, Scaroni C, Shafiq I, Sharma S, Tabarin A, Tsagarakis S, Valassi E, Vila G, Wierman M
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Pituitary Adenoma
Publication:
Pituitary v25.1 p64-73
Year:
2022
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-021-01170-3
Keywords:
Delphi process,Hypopituitarism,Perioperative,Pituitary adenoma,Postoperative assessment,Transsphenoidal surgery
Management recommendations for pancreatic manifestations of von Hippel–Lindau disease
Author(s):
Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, Links TP, Halfdanarson TR, Daniels AB, Tirosh A
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
VHL Syndrome
Publication:
Cancer v128.3 p435-446
Year:
2022
ORPHAcode / other:
ORPHA892
DOI:
10.1002/cncr.33978
Keywords:
neuroendocrine tumor,pancreas,recommendations,surveillance,von Hippel-Lindau
Low-Iodine Diet of 4 Days Is Sufficient Preparation for 131I Therapy in Differentiated Thyroid Cancer Patients
Author(s):
Dekker BL, Links MH, Muller Kobold AC, Swart-Busscher LG, Kars M, Bons JAP, Brouwers AH, Links TP, van der Horst-Schrivers ANA
Affiliated Institution / ERN:
University Hospital Essen ; Ulm University Medical Center ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.2 pe604-e611
Year:
2022
ORPHAcode / other:
ORPHA146
DOI:
10.1210/clinem/dgab691
Keywords:
individual perceptions,iodine intake,low-iodine diet,nutrition diary,radioactive iodine therapy,urinary iodine excretion
Resistance to Dopamine Agonists in Pituitary Tumors: Molecular Mechanisms
Author(s):
Pivonello C, Patalano R, Negri M, Pirchio R, Colao A, Pivonello R, Auriemma RS
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Pituitary Adenoma
Publication:
Frontiers in Endocrinology v12
Year:
2022
ORPHAcode / other:
ORPHA99408
DOI:
10.3389/fendo.2021.791633
Keywords:
cabergoline,dopamine,dopamine agonist,pituitary tumors,prolactinomas
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
Type 1 diabetes technology management traps in a pediatric patient: not all that glitters is gold
Author(s):
Piccini B, Casalini E, Macucci C, Toni S
Affiliated Institution / ERN:
Meyer Children’s Hospital Florence ;
Condition / Disease:
Type 1 Diabetes Mellitus
Publication:
Acta Diabetologica v59.1 p137-141
Year:
2022
ORPHAcode / other:
5A10
DOI:
10.1007/s00592-021-01781-z
Keywords:
Advanced hybrid closed loop,Children,Diabetes technology,Type 1 diabetes
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
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
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
Adipocyte–Breast Cancer Cell Co-Culture in Transwells
Author(s):
Ayaani SP, Wabitsch M, Christian M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Methods in Molecular Biology p59-68
Year:
2022
ORPHAcode / other:
DOI:
10.1007/978-1-0716-2376-3_6
Keywords:
Adipocyte,Breast cancer,Cell co-culture,Corning® Transwell®,MCF-7,SGBS,Simpson–Golabi–Behmel syndrome
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