Endo-ERN Publications Database

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890 publication(s) found matching the search criteria

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Author(s): Lauffer P, Bikker H, Garrelfs MR, Hillebrand JJ, de Sonnaville MC, Zwaveling-Soonawala N, van Trotsenburg AP
Affiliated Institution / ERN: Amsterdam UMC ;
Condition / Disease: Congenital hypothyroidism
Publication: Thyroid v31.11 p1757-1762 Year: 2021 ORPHAcode / other: ORPHA442
DOI: 10.1089/thy.2021.0204 Keywords: congenital hypothyroidism,resistance to thyroid hormone,sodium-iodide symporter,thyroid hormone receptor-β

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile

Author(s): Campos-Martorell A, Fernández-Cancio M, Clemente León M, Mogas Viñals E, Fàbregas Martori A, Carrascosa Lezcano A, Yeste Fernández D
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Small for gestational age
Publication: Endocrinología, Diabetes y Nutrición (English ed.) v68.9 p612-620 Year: 2021 ORPHAcode / other:
DOI: 10.1016/j.endien.2021.11.024 Keywords: Adult height,Growth hormone,Hormona de crecimiento,Pequeño para la edad gestacional,Pubertad,Pubertal maturity group,Puberty,Small for gestational age,Talla adulta

Persistent Postthyroidectomy Hypoparathyroidism in the Netherlands

Author(s): Lončar I, Noltes ME, Dickhoff C, Engelsman AF, Schepers A, Vriens MR, Bouvy ND, Kruijff S, van Ginhoven TM
Affiliated Institution / ERN: Universitätsklinikum Schleswig-Holstein ; University Hospital Essen ; Universitätsklinikum Tübingen ; University Hospital Florence ; Ulm University Medical Center ;
Condition / Disease: Hypoparathyroidism
Publication: JAMA Otolaryngology–Head & Neck Surgery v147.11 p959 Year: 2021 ORPHAcode / other:
DOI: 10.1001/jamaoto.2021.2475 Keywords:

Effectiveness of a closed‐loop control system and a virtual educational camp for children and adolescents with type 1 diabetes: A prospective, multicentre, real‐life study

Author(s): Cherubini V, Rabbone I, Berioli MG, Giorda S, Lo Presti D, Maltoni G, Mameli C, Marigliano M, Marino M, Minuto N, Mozzillo E, Piccinno E, Predieri B, Ripoli C, Schiaffini R, Rigamonti A, Salzano G, Tinti D, Toni S, Zanfardino A, Scaramuzza AE, Gesuita R, Tiberi V, Savastio S, Pigniatiello C, Trada M, Zucchini S, Redaelli FC, Maffeis C, Bassi M, Rosanio FM, Delvecchio M, Buzzi P, Ricciardi MR, Carducci C, Bonfanti R, Lombardo F, Piccini B, Iafusco D, Calandretti M, Daga FA
Affiliated Institution / ERN: AO City of Health and Science - Turin ; AOU-Bologna ; AOUI Verona ; IRCCS Istituto Giannina Gaslini, Genova ; AOU Federico II - Naples ; San Raffaele hospital - Milan ; AOU polyclinic "G.Martino" of Messina ; Meyer Children’s Hospital Florence ; AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease: Type 1 Diabetes Mellitus
Publication: Diabetes, Obesity and Metabolism v23.11 p2484-2491 Year: 2021 ORPHAcode / other: 5A10
DOI: 10.1111/dom.14491 Keywords: CSII,continuous glucose monitoring,glycaemic control,insulin pump therapy,observational study,type 1 diabetes

Pheochromocytoma Resection in a Patient With Chronic Thromboembolic Pulmonary Hypertension and Thrombocytopenia

Author(s): Stombaugh DK, Thomas C, Dalton A, Chaney MA, Nunnally ME, Berends AM, Kerstens MN
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Phaeochromocytoma
Publication: Journal of Cardiothoracic and Vascular Anesthesia v35.11 p3423-3433 Year: 2021 ORPHAcode / other: ORPHA573163
DOI: 10.1053/j.jvca.2021.03.034 Keywords: Pheochromocytoma,chronic thromboembolic pulmonary hypertension,right ventricular dysfunction

Adrenalectomy for incidental and symptomatic phaeochromocytoma: retrospective multicentre study based on the Eurocrine® database

Author(s): Hallin Thompson L, Makay Ã, Brunaud L, Raffaelli M, Bergenfelz A, Musholt T, Palazzo F, Almquist M, Barczynski M, Clerici T, Vriens M, Raffaelli M, Makay Ã, Munos Pérez N, Hansen MH, Brunaud L, Van Slycke S, Riss P, Iacobone M, Nordenström E
Affiliated Institution / ERN: University Medical Center Mainz ; University Medical Center Utrecht ; San Raffaele hospital - Milan ; University Hospital of Padova ;
Condition / Disease: Phaeochromocytoma
Publication: British Journal of Surgery v108.10 p1199-1206 Year: 2021 ORPHAcode / other: ORPHA573163
DOI: 10.1093/bjs/znab199 Keywords: pheochromocytoma, hypertension, catecholamines, adrenal, ectomyperioperative carepreoperative caresurgical procedures, operativeneoplasms

Focal Thyroid Incidentalomas on 18F-FDG PET/CT: A Systematic Review and Meta-Analysis on Prevalence, Risk of Malignancy and Inconclusive Fine Needle Aspiration

Author(s): de Leijer JF, Metman MJH, van der Hoorn A, Brouwers AH, Kruijff S, van Hemel BM, Links TP, Westerlaan HE
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Thyroid carcinoma
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA100088
DOI: 10.3389/fendo.2021.723394 Keywords: FDG (18F-fluorodeoxyglucose)-PET/CT,incidentaloma,thyroid,thyroid cancer,thyroid nodule

Consensus on diagnosis and management of Cushing’s disease: a guideline update

Author(s): Maria Fleseriu, Richard Auchus, Irina Bancos, Anat Ben-Shlomo, Jerome Bertherat, Nienke R Biermasz, Cesar L Boguszewski, Marcello D Bronstein, Michael Buchfelder, John D Carmichael, Felipe F Casanueva, Frederic Castinetti, Philippe Chanson, James Findling, Mônica Gadelha, Eliza B Geer, Andrea Giustina, Ashley Grossman, Mark Gurnell, Ken Ho, Adriana G Ioachimescu, Ursula B Kaiser, Niki Karavitaki, Laurence Katznelson, Daniel F Kelly, André Lacroix, Ann McCormack, Shlomo Melmed, Mark Molitch, Pietro Mortini, John Newell-Price, Lynnette Nieman, Alberto M Pereira, Stephan Petersenn, Rosario Pivonello, Hershel Raff, Martin Reincke, Roberto Salvatori, Carla Scaroni, Ilan Shimon, Constantine A Stratakis, Brooke Swearingen, Antoine Tabarin, Yutaka Takahashi, Marily Theodoropoulou, Stylianos Tsagarakis, Elena Valassi, Elena V Varlamov, Greisa Vila, John Wass, Susan M Webb, Maria C Zatelli, Beverly M K Bill
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Leiden University Medical Center ; Assistance Publique-Hôpitaux de Marseille ; Hôpital Bicêtre ; San Raffaele hospital - Milan ; University Hospital Essen ; AOU Federico II - Naples ; Klinikum der Universität München ; University Hospital of Padova ; Evangelismos General Hospital ; Hospital de la Santa Creu i Sant Pau ; AOU - Ferrara ;
Condition / Disease: Cushing's disease
Publication: The Lancet Diabetes & Endocrinology Year: 2021 ORPHAcode / other: ORPHA96253
DOI: 10.1016/S2213-8587(21)00235-7 Keywords: Cushing's disease; guideline;

Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span

Author(s): Lebbink C, van den Broek M, Kwast A, Derikx J, Dierselhuis M, Kruijff S, Links T, van Trotsenburg A, Valk G, Vriens M, Verrijn Stuart A, van Santen H, Karim-Kos H
Affiliated Institution / ERN: University Hospital Florence ; University Hospital Essen ;
Condition / Disease: Differentiated and medullary thyroid carcinoma
Publication: Cancers v13.20 p5104 Year: 2021 ORPHAcode / other: ORPHA146, ORPHA1332
DOI: 10.3390/cancers13205104 Keywords: adolescents,children,epidemiology,incidence,survival,thyroid cancer,young adults

Cost-Utility of Acromegaly Pharmacological Treatments in a French Context

Author(s): Brue T, Chanson P, Rodien P, Delemer B, Drui D, Marié L, Juban L, Salvi L, Henocque R, Raverot G
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Marseille ; Hôpital Bicêtre ; CHU d'Angers ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ;
Condition / Disease: Acromegaly
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA963
DOI: 10.3389/fendo.2021.745843 Keywords: QALY,acromegaly,cost-utility,growth hormone,insulin-like growth factor-1,pasireotide,pegvisomant,somatostatin

Multicenter Analysis of Presacral Neuroendocrine Neoplasms—Clinicopathological Characterization and Treatment Outcomes of a Rare Disease

Author(s): Matrood S, Apostolidis L, Schrader J, Krug S, Lahner H, Ramaswamy A, Librizzi D, Kender Z, Kröcher A, Kreutzfeldt S, Gress TM, Rinke A
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: Neuroendocrine Neoplasms
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA877
DOI: 10.3389/fendo.2021.709256 Keywords: CUP-NET,PRRT,carcinoid,neuroendocrine carcinoma,neuroendocrine tumor,presacral,prognosis,retrorectal

Association between long term exposure to particulate matter and incident hypertension in Spain

Author(s): Doulatram-Gamgaram V, Valdés S, Maldonado-Araque C, Lago-Sampedro A, Badía-Guillén R, García-Escobar E, García-Serrano S, García-Vivanco M, Garrido JL, Theobald MR, Gil V, Martín-Llorente F, Calle-Pascual A, Bordiu E, Castaño L, Delgado E, Franch-Nadal J, Chaves FJ, Montanya E, Galán-García JL, Aguilera-Venegas G, Soriguer F, Rojo-Martínez G
Affiliated Institution / ERN:
Condition / Disease: Hypertension
Publication: Scientific Reports v11.1 Year: 2021 ORPHAcode / other:

A New Clinical Model to Estimate the Pre-Test Probability of Cushing’s Syndrome: The Cushing Score

Author(s): Parasiliti-Caprino M, Bioletto F, Frigerio T, D’Angelo V, Ceccato F, Ferraù F, Ferrigno R, Minnetti M, Scaroni C, Cannavò S, Pivonello R, Isidori A, Broglio F, Giordano R, Spinello M, Grottoli S, Arvat E
Affiliated Institution / ERN: AO City of Health and Science - Turin ; University Hospital of Padova ; AOU polyclinic "G.Martino" of Messina ; AOU Federico II - Naples ;
Condition / Disease: Cushing syndrome
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA553
DOI: 10.3389/fendo.2021.747549 Keywords: adrenal disease,adrenocorticotrophic hormone,corticosteroids,cortisol,hypercortisolism,pituitary disease

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Author(s): Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ, Dörgeloh BB, Farah RA, Glentis S, Golmard L, Hoyer J, Jahnukainen K, Jewell R, Karow A, Katsibardi K, Kuhlen M, Meinhardt A, Nemes K, Poluha A, Ripperger T, Waespe N, Adlard J, Ahmed M, Brennan B, Dabir T, Evans DG, Kelsey A, Kohut K, Kulkarni A, Murray A, Ong KR, Penn A, Semple T, Woodward ER, van Leeuwaarde RS, Littooij AS, Merks JHM, Rasmussen ÃK, van Santen HM, Smetsers SE
Affiliated Institution / ERN:
Condition / Disease:
Publication: Familial Cancer v20.4 p337-348 Year: 2021 ORPHAcode / other:
DOI: 10.1007/s10689-021-00264-y Keywords: Cancer predisposition syndrome,DICER1,Hereditary,Surveillance

Bone Quality as Measured by Trabecular Bone Score in Normocalcemic Primary Hyperparathyroidism

Author(s): Naciu AM, Tabacco G, Falcone S, Incognito GG, Chiodini I, Maggi D, Pedone C, Lelli D, Bilezikian JP, Napoli N, Manfrini S, Cesareo R, Palermo A
Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease: Hyperparathyroidism
Publication: Endocrine Practice v27.10 p992-997 Year: 2021 ORPHAcode / other: ORPHA181408
DOI: 10.1016/j.eprac.2021.04.884 Keywords: PTH,TBS,calcium,hyperparathyroidism,normocalcemic hyperparathyroidism,vertebral fractures

Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network

Author(s): Deflorenne E, Peuchmaur M, Vezzosi D, Ajzenberg C, Brunaud L, Chevalier N, Christin-Maitre S, Decoudier B, Driessens N, Drui DD, Gilly O, Goudet P, Illouz F, Jublanc C, Lefebvre H, Lopez A, Lussey C, Morini A, Raffin-Sanson M, Raingeard I, Renoult-Pierre P, Storey C, Tabarin A, Vantyghem MC, Vidal-Petiot E, Baudin E, Bertherat J, Amar L
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; CHU de Toulouse ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; CHU d'Angers ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Multiple endocrine neoplasia type 2B
Publication: European Journal of Endocrinology v185.4 p463-474 Year: 2021 ORPHAcode / other: ORPHA247709
DOI: 10.1530/EJE-20-1049 Keywords:

Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)

Author(s): Siurana JM, Ventura PS, Yeste D, Riaza-Martin L, Arciniegas L, Clemente M, Torres M, Amigó N, Giralt G, Roses-Noguer F, Sabate-Rotes A
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;
Condition / Disease: Obesity
Publication: The American Journal of Cardiology v157 p128-134 Year: 2021 ORPHAcode / other: 5B81.00

Illness-related burden, personal resources and need for support in patients with acromegaly: Results of a focus group analysis

Author(s): Siegel S, Kirstein CF, Schröder B, Unger N, Kreitschmann-Andermahr I
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Acromegaly
Publication: Growth Hormone & IGF Research v60-61 p101422 Year: 2021 ORPHAcode / other: ORPHA963
DOI: 10.1016/j.ghir.2021.101422 Keywords: Acromegaly,Coping,Focus group,Impairment,Quality of life

Distinct Late-Night Salivary Cortisol Cut-Off Values for the Diagnosis of Hypercortisolism

Author(s): van Baal L, Wichert M, Zwanziger D, Dralle H, Weber F, Kreitschmann-Andermahr I, Führer D, Unger N
Affiliated Institution / ERN: Children's Clinical University Hospital, Riga ;
Condition / Disease: Cushing's disease, Cushing's syndrome
Publication: Hormone and Metabolic Research v53.10 p662-671 Year: 2021 ORPHAcode / other: ORPHA96253, ORPHA189427
DOI: 10.1055/a-1608-1720 Keywords:

Detection by fluorescence of pituitary neuroendocrine tumour (PitNET) tissue during endoscopic transsphenoidal surgery using bevacizumab-800CW (DEPARTURE trial): study protocol for a non-randomised, non-blinded, single centre, feasibility and dose-finding trial

Author(s): Vergeer RA, Postma MR, Schmidt I, Korsten-Meijer AG, Feijen RA, Kruijff S, Nagengast WB, van Dijk JMC, den Dunnen WFA, van Beek AP, Kuijlen JMA, van den Berg G
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Pituitary adenoma
Publication: BMJ Open v11.10 pe049109 Year: 2021 ORPHAcode / other: ORPHA99408
DOI: 10.1136/bmjopen-2021-049109 Keywords: neurosurgery,pituitary disorders

Gene expression signatures predict response to therapy with growth hormone

Author(s): Stevens A, Murray P, De Leonibus C, Garner T, Koledova E, Ambler G, Kapelari K, Binder G, Maghnie M, Zucchini S, Bashnina E, Skorodok J, Yeste D, Belgorosky A, Siguero JL, Coutant R, Vangsøy-Hansen E, Hagenäs L, Dahlgren J, Deal C, Chatelain P, Clayton P
Affiliated Institution / ERN: Public Pediatric Teaching Hospital ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; IRCCS Ospedale Policlinico San Martino – Genova ; Merkur University Hospital ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; ERN BOND ;
Condition / Disease: Growth hormone deficiency, Turner syndrome
Publication: The Pharmacogenomics Journal v21.5 p594-607 Year: 2021 ORPHAcode / other: ORPHA631, ORPHA881

Circulating adrenomedullin and B-type natriuretic peptide do not predict blood pressure fluctuations during pheochromocytoma resection: a cross-sectional study

Author(s): Berends AMA, Buitenwerf E, Riphagen IJ, Lenders JWM, Timmers HJLM, Kruijff S, Links TP, van der Horst-Schrivers ANA, Stegeman CA, Eekhoff EMW, Feelders RA, Corssmit EPM, Groote Veldman R, Haak HR, Muller Kobold AC, Kerstens MN
Affiliated Institution / ERN: University Hospital Essen ; Sestre milosrdnice University Hospital Center ; Universitätsklinikum Schleswig-Holstein ; Universitätsklinikum Tübingen ; University Hospital Aachen ; Ulm University Medical Center ;
Condition / Disease: Phaeochromocytoma and paraganglioma
Publication: European Journal of Endocrinology v185.4 p507-514 Year: 2021 ORPHAcode / other: ORPHA573163
DOI: 10.1530/EJE-20-1452 Keywords:

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

Author(s): Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall’Anese C, Ariceta G, Castaño L, Madariaga L
Affiliated Institution / ERN:
Condition / Disease:
Publication: Pediatric Nephrology v36.10 p3133-3142 Year: 2021 ORPHAcode / other:
DOI: 10.1007/s00467-021-05066-z Keywords: ATP6V0A4,ATP6V1B1,Distal renal tubular acidosis,Genotype-phenotype correlation,Growth,Long-term outcome,SLC4A1

Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia

Author(s): van Rooijen JJ, van Trotsenburg ASP, van de Berg DJ, Zwaveling-Soonawala N, Nieveen van Dijkum EJM, Engelsman AF, Derikx JPM, Mooij CF
Affiliated Institution / ERN: Amsterdam UMC ;
Condition / Disease: Pediatric Graves disease; thyroid carcinoma;
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA525731; ORPHA100088;
DOI: 10.3389/fendo.2021.717769 Keywords: Graves’ disease,hypocalcemia,postoperative complications,recurrent laryngeal nerve (RLN) injury,thyroid cancer,thyroidectomy

Implication of Heterozygous Variants in Genes of the Leptin–Melanocortin Pathway in Severe Obesity

Author(s): Courbage S, Poitou C, Le Beyec-Le Bihan J, Karsenty A, Lemale J, Pelloux V, Lacorte J, Carel J, Lecomte N, Storey C, De Filippo G, Coupaye M, Oppert J, Tounian P, Clément K, Dubern B
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hôpital Bicêtre ;
Condition / Disease: Genetic obesity
Publication: The Journal of Clinical Endocrinology & Metabolism v106.10 p2991-3006 Year: 2021 ORPHAcode / other: ORPHA77828
DOI: 10.1210/clinem/dgab404 Keywords: Severe early,leptin,melanocortin pathway,onset obesity

Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism

Author(s): Naafs JC, Marchal JP, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease: Central congenital hypothyroidism
Publication: The Journal of Clinical Endocrinology & Metabolism v106.10 pe4231-e4241 Year: 2021 ORPHAcode / other: ORPHA226298
DOI: 10.1210/clinem/dgab209 Keywords: central hypothyroidism,congenital hypothyroidism,fatigue,neonatal screening,quality of life

Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Author(s): Pellikaan K, Ben Brahim Y, Rosenberg AGW, Davidse K, Poitou C, Coupaye M, Goldstone AP, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Eldar-Geva T, Hirsch HJ, Gross-Tsur V, Butler MG, Miller JL, van den Berg SAA, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Karolinska University Hospital ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease: Prader-Willi syndrome
Publication: Journal of Clinical Medicine v10.19 p4361 Year: 2021 ORPHAcode / other: ORPHA739
DOI: 10.3390/jcm10194361 Keywords: Prader-Willi syndrome,estrogens,hypogonadism,hypothalamus,menstrual cycle,obesity,pituitary gland,puberty

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

Author(s): Neocleous V, Fanis P, Toumba M, Gorka B, Kousiappa I, Tanteles GA, Iasonides M, Nicolaides NC, Christou YP, Michailidou K, Nicolaou S, Papacostas SS, Christoforidis A, Kyriakou A, Vlachakis D, Skordis N, Phylactou LA
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ; General Hospital of Athens “LAIKO” ; Aghia Sophia Children’s Hospital ;
Condition / Disease: Central Precocious Puberty
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA759
DOI: 10.3389/fendo.2021.745048 Keywords: DLK1,KISS1,KISS1R, MAGEL2,MKRN3,central precocious puberty,next-generation sequencing

Diagnosis and Management of Central Congenital Hypothyroidism

Author(s): Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Affiliated Institution / ERN:
Condition / Disease: Central Congenital Hypothyroidism
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA442
DOI: 10.3389/fendo.2021.686317 Keywords: central congenital hypothyroidism,combined pituitary hormone deficiencies,diagnosis,etiology,isolated central congenital hypothyroidism,management,pituitary stalk interruption syndrome

90Y radioembolization in the treatment of neuroendocrine neoplasms: Results of an international multicenter retrospective study.

Author(s): Schaarschmidt BM, Wildgruber M, Kloeckner R, Nie J, Steinle V, Braat AJAT, Lohoefer F, Kim HS, Lahner H, Weber M, Theysohn J
Affiliated Institution / ERN: Children's Clinical University Hospital, Riga ; Azienda USL-IRCCS di Reggio Emilia ; CHU de Toulouse ; University Hospital Florence ;
Condition / Disease: Neuroendocrine tumours
Publication: Journal of Nuclear Medicine pjnumed.121.262561 Year: 2021 ORPHAcode / other: ORPHA877
DOI: 10.2967/jnumed.121.262561 Keywords: SIRT,neuroendocrine carcinoma,neuroendocrine neoplasm,neuroendocrine tumor,radioembolization,radionuclide therapy