{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T14:42:11Z","timestamp":1759588931836},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T00:00:00Z","timestamp":1511136000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca (IT)","award":["PRIN 2012"],"award-info":[{"award-number":["PRIN 2012"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1007\/s40618-017-0795-7","type":"journal-article","created":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T14:58:30Z","timestamp":1511189910000},"page":"711-717","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis"],"prefix":"10.1007","volume":"41","author":[{"given":"I. C.","family":"Nettore","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Desiderio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"De Nisco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Cacace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Albano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Improda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ungaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Salerno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Colao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. E.","family":"Macchia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,11,20]]},"reference":[{"issue":"7","key":"795_CR1","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1089\/thy.1999.9.735","volume":"9","author":"S LaFranchi","year":"1999","unstructured":"LaFranchi S (1999) Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid: Off J Am Thyroid Assoc 9(7):735\u2013740","journal-title":"Thyroid: Off J Am Thyroid Assoc"},{"issue":"5","key":"795_CR2","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1111\/j.1365-2265.2009.03568.x","volume":"71","author":"C Corbetta","year":"2009","unstructured":"Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L (2009) A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol 71(5):739\u2013745. \n                        https:\/\/doi.org\/10.1111\/j.1365-2265.2009.03568.x","journal-title":"Clin Endocrinol"},{"key":"795_CR3","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0959-437X(99)80043-4","volume":"9","author":"PE Macchia","year":"1999","unstructured":"Macchia PE, De Felice M, Di Lauro R (1999) Molecular genetics of congenital hypothyrodism. Curr Opin Genet Dev 9:289\u2013294","journal-title":"Curr Opin Genet Dev"},{"issue":"8","key":"795_CR4","doi-asserted-by":"publisher","first-page":"654","DOI":"10.3275\/8973","volume":"36","author":"I Nettore","year":"2013","unstructured":"Nettore I, Cacace V, De Fusco C, Colao A, Macchia P (2013) The molecular causes of thyroid dysgenesis: a systematic review. J Endocrinol Investig 36(8):654\u2013664. \n                        https:\/\/doi.org\/10.3275\/8973","journal-title":"J Endocrinol Investig"},{"issue":"6","key":"795_CR5","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1089\/thy.2012.0267","volume":"23","author":"IC Nettore","year":"2013","unstructured":"Nettore IC, Mirra P, Ferrara A, Sibilio A, Pagliara V, Kay C, Lorenzoni P, Werneck L, Bruck I, Dos Santos L, Beguinot F, Salvatore D, Ungaro P, Fenzi G, Scola R, Macchia PE (2013) Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid: Off J Am Thyroid Assoc 23(6):675\u2013682. \n                        https:\/\/doi.org\/10.1089\/thy.2012.0267","journal-title":"Thyroid: Off J Am Thyroid Assoc"},{"issue":"1","key":"795_CR6","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1038\/nrendo.2014.186","volume":"11","author":"LP Fernandez","year":"2015","unstructured":"Fernandez LP, Lopez-Marquez A, Santisteban P (2015) Thyroid transcription factors in development, differentiation and disease. Nat Rev Endocrinol 11(1):29\u201342. \n                        https:\/\/doi.org\/10.1038\/nrendo.2014.186","journal-title":"Nat Rev Endocrinol"},{"issue":"2","key":"795_CR7","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1159\/000445891","volume":"86","author":"P Srichomkwun","year":"2016","unstructured":"Srichomkwun P, Admoni O, Refetoff S, de Vries L (2016) A novel mutation (S54C) of the PAX8 gene in a family with congenital hypothyroidism and a high proportion of affected individuals. Horm Res Paediatr 86(2):137\u2013142. \n                        https:\/\/doi.org\/10.1159\/000445891","journal-title":"Horm Res Paediatr"},{"key":"795_CR8","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/B978-0-12-800892-8.00008-7","volume-title":"Genetic diagnosis of endocrine disorders","author":"J Pohlenz","year":"2016","unstructured":"Pohlenz J, Van Vliet G, Delado\u00eby J (2016) Developmental abnormalities of the thyroid. In: Weiss RE, Refefoff S (eds) Genetic diagnosis of endocrine disorders, 2nd edn. Academic Press, San Diego, pp 127\u2013136. \n                        https:\/\/doi.org\/10.1016\/B978-0-12-800892-8.00008-7","edition":"2"},{"issue":"5","key":"795_CR9","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1210\/er.2003-0028","volume":"25","author":"M Felice De","year":"2004","unstructured":"De Felice M, Di Lauro R (2004) Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25(5):722\u2013746. \n                        https:\/\/doi.org\/10.1210\/er.2003-0028","journal-title":"Endocr Rev"},{"key":"795_CR10","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-017-0715-x","author":"F Marelli","year":"2017","unstructured":"Marelli F, Persani L (2017) Role of Jagged1-Notch pathway in thyroid development. J Endocrinol Invest. \n                        https:\/\/doi.org\/10.1007\/s40618-017-0715-x","journal-title":"J Endocrinol Invest"},{"issue":"12","key":"795_CR11","doi-asserted-by":"crossref","first-page":"5038","DOI":"10.1210\/en.2005-0882","volume":"146","author":"E Amendola","year":"2005","unstructured":"Amendola E, De Luca P, Macchia PE, Terracciano D, Rosica A, Chiappetta G, Kimura S, Mansouri A, Affuso A, Arra C, Macchia V, Di Lauro R, De Felice M (2005) A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology 146(12):5038\u20135047","journal-title":"Endocrinology"},{"issue":"4","key":"795_CR12","doi-asserted-by":"publisher","first-page":"1948","DOI":"10.1210\/en.2009-1240","volume":"151","author":"E Amendola","year":"2010","unstructured":"Amendola E, Sanges R, Galvan A, Dathan N, Manenti G, Ferrandino G, Alvino FM, Di Palma T, Scarfo M, Zannini M, Dragani TA, De Felice M, Di Lauro R (2010) A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. Endocrinology 151(4):1948\u20131958. \n                        https:\/\/doi.org\/10.1210\/en.2009-1240","journal-title":"Endocrinology"},{"issue":"22","key":"795_CR13","doi-asserted-by":"publisher","first-page":"2560","DOI":"10.1007\/s00018-006-6192-6","volume":"63","author":"XB Qiu","year":"2006","unstructured":"Qiu XB, Shao YM, Miao S, Wang L (2006) The diversity of the DnaJ\/Hsp40 family, the crucial partners for Hsp70 chaperones. Cell Mol Life Sci 63(22):2560\u20132570. \n                        https:\/\/doi.org\/10.1007\/s00018-006-6192-6","journal-title":"Cell Mol Life Sci"},{"issue":"5576","key":"795_CR14","doi-asserted-by":"publisher","first-page":"2232","DOI":"10.1126\/science.1073051","volume":"296","author":"BC Freeman","year":"2002","unstructured":"Freeman BC, Yamamoto KR (2002) Disassembly of transcriptional regulatory complexes by molecular chaperones. Science 296(5576):2232\u20132235. \n                        https:\/\/doi.org\/10.1126\/science.1073051","journal-title":"Science"},{"key":"795_CR15","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0300-9084(99)80092-3","volume":"81","author":"PE Macchia","year":"1999","unstructured":"Macchia PE, Mattei M, Lapi P, Fenzi G, Di Lauro R (1999) Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie 81:433\u2013440","journal-title":"Biochimie"},{"issue":"4","key":"795_CR16","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1210\/jc.2005-1350","volume":"91","author":"M Dentice","year":"2006","unstructured":"Dentice M, Cordeddu V, Rosica A, Ferrara A, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE (2006) Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 91(4):1428\u20131433. \n                        https:\/\/doi.org\/10.1210\/jc.2005-1350","journal-title":"J Clin Endocrinol Metab"},{"key":"795_CR17","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2012.0267","author":"IC Nettore","year":"2013","unstructured":"Nettore IC, Ferrara A, Mirra P, Sibilio A, Pagliara V, Kamoi Kay C, Lorenzoni P, Werneck L, Bruck I, Coutinho Dos Santos L, Beguinot F, Salvatore D, Ungaro P, Fenzi G, Scola R, Macchia PE (2013) Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid: Off J Am Thyroid Assoc. \n                        https:\/\/doi.org\/10.1089\/thy.2012.0267","journal-title":"Thyroid: Off J Am Thyroid Assoc"},{"issue":"1","key":"795_CR18","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0598-83","volume":"19","author":"PE Macchia","year":"1998","unstructured":"Macchia PE, Lapi P, Krude H, Pirro M, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19(1):83\u201386","journal-title":"Nat Genet"},{"issue":"2","key":"795_CR19","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1111\/j.1365-2265.2005.02314.x","volume":"63","author":"M Camilot","year":"2005","unstructured":"Camilot M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, Bona G, Radetti G, Tato L (2005) Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol 63(2):146\u2013151. \n                        https:\/\/doi.org\/10.1111\/j.1365-2265.2005.02314.x","journal-title":"Clin Endocrinol"},{"issue":"9","key":"795_CR20","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1089\/thy.2008.0085","volume":"18","author":"AM Ferrara","year":"2008","unstructured":"Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE (2008) A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 18(9):1005\u20131009. \n                        https:\/\/doi.org\/10.1089\/thy.2008.0085","journal-title":"Thyroid"},{"issue":"11\u201312","key":"795_CR21","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1007\/s10709-010-9522-4","volume":"138","author":"T Peng","year":"2010","unstructured":"Peng T, Wang L, Zhou SF, Li X (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 138(11\u201312):1231\u20131240. \n                        https:\/\/doi.org\/10.1007\/s10709-010-9522-4","journal-title":"Genetica"},{"issue":"11","key":"795_CR22","first-page":"14917","volume":"8","author":"Y Cao","year":"2015","unstructured":"Cao Y, Lan W, Li Y, Wei C, Zou H, Jiang L (2015) Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population. Int J Clin Exp Pathol 8(11):14917\u201314924","journal-title":"Int J Clin Exp Pathol"},{"issue":"3","key":"795_CR23","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/hmg\/ddw419","volume":"26","author":"A Carre","year":"2017","unstructured":"Carre A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Leger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M (2017) Mutations in BOREALIN cause thyroid dysgenesis. Hum Mol Genet 26(3):599\u2013610. \n                        https:\/\/doi.org\/10.1093\/hmg\/ddw419","journal-title":"Hum Mol Genet"},{"issue":"13","key":"795_CR24","doi-asserted-by":"publisher","first-page":"2507","DOI":"10.1093\/hmg\/ddx145","volume":"26","author":"T Filippis de","year":"2017","unstructured":"de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L (2017) A frequent oligogenic involvement in congenital hypothyroidism. Hum Mol Genet 26(13):2507\u20132514. \n                        https:\/\/doi.org\/10.1093\/hmg\/ddx145","journal-title":"Hum Mol Genet"},{"issue":"7","key":"795_CR25","doi-asserted-by":"publisher","first-page":"e149","DOI":"10.3275\/7331","volume":"34","author":"AM Ferrara","year":"2011","unstructured":"Ferrara AM, Rossi G, Zampella E, Di Candia S, Pagliara V, Nettore I, Capalbo D, De Sanctis L, Baserga M, Salerno M, Fenzi G, Macchia PE (2011) Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. J Endocrinol Invest 34(7):e149\u2013e152. \n                        https:\/\/doi.org\/10.3275\/7331","journal-title":"J Endocrinol Invest"},{"issue":"10","key":"795_CR26","doi-asserted-by":"publisher","first-page":"e13420","DOI":"10.1371\/journal.pone.0013420","volume":"5","author":"R Abu-Khudir","year":"2010","unstructured":"Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoey J (2010) Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands. PLoS ONE 5(10):e13420. \n                        https:\/\/doi.org\/10.1371\/journal.pone.0013420","journal-title":"PLoS ONE"},{"issue":"7","key":"795_CR27","doi-asserted-by":"publisher","first-page":"3446","DOI":"10.1210\/jc.2009-2195","volume":"95","author":"A Thorwarth","year":"2010","unstructured":"Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H, Ullmann R (2010) Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. J Clin Endocrinol Metab 95(7):3446\u20133452. \n                        https:\/\/doi.org\/10.1210\/jc.2009-2195","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"795_CR28","doi-asserted-by":"publisher","first-page":"E169","DOI":"10.1210\/jc.2013-2619","volume":"99","author":"P Kuhnen","year":"2014","unstructured":"Kuhnen P, Turan S, Frohler S, Guran T, Abali S, Biebermann H, Bereket A, Gruters A, Chen W, Krude H (2014) Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and \u201capparent\u201d thyroid dysgenesis. J Clin Endocrinol Metab 99(1):E169\u2013E176. \n                        https:\/\/doi.org\/10.1210\/jc.2013-2619","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"795_CR29","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1089\/thy.2016.0016","volume":"26","author":"C Lof","year":"2016","unstructured":"Lof C, Patyra K, Kuulasmaa T, Vangipurapu J, Undeutsch H, Jaeschke H, Pajunen T, Kero A, Krude H, Biebermann H, Kleinau G, Kuhnen P, Rantakari K, Miettinen P, Kirjavainen T, Pursiheimo JP, Mustila T, Jaaskelainen J, Ojaniemi M, Toppari J, Ignatius J, Laakso M, Kero J (2016) Detection of novel gene variants associated with congenital hypothyroidism in a finnish patient cohort. Thyroid: Off J Am Thyroid Assoc 26(9):1215\u20131224. \n                        https:\/\/doi.org\/10.1089\/thy.2016.0016","journal-title":"Thyroid: Off J Am Thyroid Assoc"},{"issue":"12","key":"795_CR30","doi-asserted-by":"publisher","first-page":"4521","DOI":"10.1210\/jc.2016-1879","volume":"101","author":"AK Nicholas","year":"2016","unstructured":"Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N (2016) Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. J Clin Endocrinol Metab 101(12):4521\u20134531. \n                        https:\/\/doi.org\/10.1210\/jc.2016-1879","journal-title":"J Clin Endocrinol Metab"},{"key":"795_CR31","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.cca.2012.09.012","volume":"414","author":"TK Er","year":"2012","unstructured":"Er TK, Chang JG (2012) High-resolution melting: applications in genetic disorders. Clinica Chimica Acta Int J Clin Chem 414:197\u2013201. \n                        https:\/\/doi.org\/10.1016\/j.cca.2012.09.012","journal-title":"Clinica Chimica Acta Int J Clin Chem"},{"key":"795_CR32","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.tube.2017.07.002","volume":"106","author":"K Sharma","year":"2017","unstructured":"Sharma K, Sharma M, Singh S, Modi M, Sharma A, Ray P, Varma S (2017) Real-time PCR followed by high-resolution melting curve analysis: a rapid and pragmatic approach for screening of multidrug-resistant extrapulmonary tuberculosis. Tuberculosis 106:56\u201361. \n                        https:\/\/doi.org\/10.1016\/j.tube.2017.07.002","journal-title":"Tuberculosis"},{"key":"795_CR33","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-017-2306-1","author":"P Charoenkwan","year":"2017","unstructured":"Charoenkwan P, Sirichotiyakul S, Phusua A, Suanta S, Fanhchaksai K, Sae-Tung R, Sanguansermsri T (2017) High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand. Int J Hematol. \n                        https:\/\/doi.org\/10.1007\/s12185-017-2306-1","journal-title":"Int J Hematol"}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40618-017-0795-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-017-0795-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-017-0795-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,15]],"date-time":"2018-05-15T01:18:57Z","timestamp":1526347137000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40618-017-0795-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,20]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["795"],"URL":"https:\/\/doi.org\/10.1007\/s40618-017-0795-7","relation":{},"ISSN":["1720-8386"],"issn-type":[{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,20]]}}}