{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:38:41Z","timestamp":1791232721898,"version":"4.1.0"},"reference-count":50,"publisher":"Walter de Gruyter GmbH","issue":"3-4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1,1]]},"DOI":"10.1515\/jpem-2013-0109","type":"journal-article","created":{"date-parts":[[2013,10,16]],"date-time":"2013-10-16T03:09:19Z","timestamp":1381892959000},"source":"Crossref","is-referenced-by-count":16,"title":["NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients"],"prefix":"10.1515","volume":"27","author":[{"given":"Vinutha B.","family":"Shetty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Kiraly-Borri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillipa","family":"Lamont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie","family":"Bikker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine S.Y.","family":"Choong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref71","first-page":"14","article-title":"Molecular mechanisms of thyroid dysgenesis","volume":"62","author":"Polak","year":"2004","journal-title":"Horm Res"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1034\/j.1399-0004.2003.00107.x","article-title":"of the thyroid gland : lessons from congenitally hypothyroid mice and men","author":"Van Vliet","year":"2003","journal-title":"Development Clin Genet"},{"key":"ref41","first-page":"10","article-title":"CH The ebp null mouse thyroid - specific enhancer - binding protein is essential for the organogenesis of the thyroid lung ventral forebrain and pituitary Genes","author":"Kimura","year":"1996"},{"key":"ref441","first-page":"144","article-title":"Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene","volume":"2","author":"Hamvas","year":"2013","journal-title":"Chest"},{"key":"ref51","first-page":"1","article-title":"Partial deficiency of thyroid transcription factor produces predominantly neurological defects in humans and mice","author":"Pohlenz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref331","first-page":"1","article-title":"Partial deficiency of thyroid transcription factor produces predominantly neurological defects in humans and mice","author":"Pohlenz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref461","first-page":"280","article-title":"factors in mouse lung development and function","author":"Costa","year":"2001","journal-title":"Transcription Am J Physiol Lung Cell Mol Physiol"},{"key":"ref281","first-page":"307","article-title":"Tell unique combination of transcription factors controls differentiation of thyroid cells Acid","author":"Damante","year":"2001","journal-title":"Prog Res Mol Biol"},{"key":"ref451","first-page":"217","article-title":"Inhibition of distal lung morphogenesis in embryos","volume":"2","author":"Yuan","year":"2000"},{"key":"ref511","first-page":"3243","article-title":"Protean phenotypic features of the mitochondrial mutation","author":"Kaufmann","year":"2009","journal-title":"DNA Arch"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"3185","DOI":"10.1093\/emboj\/16.11.3185","article-title":"a new forkhead protein shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation","volume":"16","author":"Zannini","year":"1997","journal-title":"EMBO J"},{"key":"ref171","first-page":"217","article-title":"Inhibition of distal lung morphogenesis in embryos","volume":"2","author":"Yuan","year":"2000"},{"key":"ref401","first-page":"1","article-title":"Mutations in the gene encoding thyroid transcription factor are not a frequent cause of congenital hypothyroidism CH with thyroid dysgenesis","author":"Lapi","year":"1997","journal-title":"Thyroid"},{"key":"ref351","first-page":"14","article-title":"Molecular mechanisms of thyroid dysgenesis","volume":"62","author":"Polak","year":"2004","journal-title":"Horm Res"},{"key":"ref101","first-page":"1","article-title":"syndrome a patient with a severe multi - system disorder due to a de novo mutation in the thyroid transcription factor gene","author":"Willemsen","year":"2005","journal-title":"Brain Thyroid Lung Eur J Pediatr"},{"key":"ref21","first-page":"1","article-title":"nuclear factor contains a homeodomain and displays a novel DNA binding specificity","author":"Guazzi","year":"1990","journal-title":"Thyroid EMBO J"},{"key":"ref121","first-page":"1","article-title":"Mutations in the gene encoding thyroid transcription factor are not a frequent cause of congenital hypothyroidism CH with thyroid dysgenesis","author":"Lapi","year":"1997","journal-title":"Thyroid"},{"key":"ref151","first-page":"809","article-title":"- specific enhancer - binding protein is required for the maintenance of ordered architecture and function of the differentiated thyroid","volume":"2","author":"Kusakabe","year":"2006","journal-title":"Thyroid Mol Endocrinol"},{"key":"ref61","first-page":"1991","article-title":"population - based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism : data from the Italian Registry for Congenital Hypothyroidism","author":"Olivieri","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"ref311","first-page":"331","article-title":"In vivo characterization of the promoter enhancer elements in transgenic mice","volume":"2","author":"Pan","year":"2004","journal-title":"Gene"},{"key":"ref241","first-page":"1997","article-title":"Risk factors for congenital hypothyroidism : results of a population case - control study","author":"Medda","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"ref341","first-page":"1991","article-title":"population - based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism : data from the Italian Registry for Congenital Hypothyroidism","author":"Olivieri","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"ref501","first-page":"39","article-title":"Mitochondrial encephalopathy with lactic acidosis and stroke - like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient","author":"Lau","year":"2007","journal-title":"Int Urol Nephrol"},{"key":"ref251","first-page":"158","article-title":"congenital hypothyroidism and neonatal respiratory distress syndrome with intact","volume":"2","author":"Barnett","year":"2012","journal-title":"Am J Med Genet"},{"key":"ref421","first-page":"145","article-title":"DA Autosomal dominant transmission of congenital hypothyroidism neonatal respiratory distress and ataxia caused by a mutation of","volume":"2","author":"Doyle","year":"2004","journal-title":"J Pediatr"},{"key":"ref521","first-page":"1997","article-title":"Risk factors for congenital hypothyroidism : results of a population case - control study","author":"Medda","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"ref321","first-page":"10","article-title":"CH The ebp null mouse thyroid - specific enhancer - binding protein is essential for the organogenesis of the thyroid lung ventral forebrain and pituitary Genes","author":"Kimura","year":"1996"},{"key":"ref01","first-page":"307","article-title":"Tell unique combination of transcription factors controls differentiation of thyroid cells Acid","author":"Damante","year":"2001","journal-title":"Prog Res Mol Biol"},{"key":"ref551","first-page":"146","article-title":"JE dysgenesis multigenic or epigenetic or both","author":"Vassart","year":"2005","journal-title":"Thyroid Endocrinology"},{"key":"ref231","first-page":"3243","article-title":"Protean phenotypic features of the mitochondrial mutation","author":"Kaufmann","year":"2009","journal-title":"DNA Arch"},{"key":"ref91","first-page":"109","article-title":"Krude von Moers hypothyroidism and pulmonary alterations due to human haploinsufficiency","volume":"2","author":"Schutz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref181","first-page":"280","article-title":"factors in mouse lung development and function","author":"Costa","year":"2001","journal-title":"Transcription Am J Physiol Lung Cell Mol Physiol"},{"key":"ref301","first-page":"1","article-title":"nuclear factor contains a homeodomain and displays a novel DNA binding specificity","author":"Guazzi","year":"1990","journal-title":"Thyroid EMBO J"},{"key":"ref31","first-page":"331","article-title":"In vivo characterization of the promoter enhancer elements in transgenic mice","volume":"2","author":"Pan","year":"2004","journal-title":"Gene"},{"key":"ref161","first-page":"144","article-title":"Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene","volume":"2","author":"Hamvas","year":"2013","journal-title":"Chest"},{"key":"ref531","first-page":"158","article-title":"congenital hypothyroidism and neonatal respiratory distress syndrome with intact","volume":"2","author":"Barnett","year":"2012","journal-title":"Am J Med Genet"},{"key":"ref271","first-page":"146","article-title":"JE dysgenesis multigenic or epigenetic or both","author":"Vassart","year":"2005","journal-title":"Thyroid Endocrinology"},{"key":"ref221","first-page":"39","article-title":"Mitochondrial encephalopathy with lactic acidosis and stroke - like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient","author":"Lau","year":"2007","journal-title":"Int Urol Nephrol"},{"key":"ref371","first-page":"109","article-title":"Krude von Moers hypothyroidism and pulmonary alterations due to human haploinsufficiency","volume":"2","author":"Schutz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref201","first-page":"317","article-title":"Case records of the Massachusetts General Hospital Weekly clinicopathological exercises Case year - old woman with an ocular motility disturbance myopathy and hypocalcemia","volume":"30","year":"1987","journal-title":"Engl J Med"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1136\/jnnp-2012-302505","article-title":"Benign hereditary chorea phenotype prognosis therapeutic outcome and long term follow - up in a large series with new mutations in the gene","author":"Gras","year":"2012","journal-title":"J Neurol Psychiatry"},{"key":"ref431","first-page":"809","article-title":"- specific enhancer - binding protein is required for the maintenance of ordered architecture and function of the differentiated thyroid","volume":"2","author":"Kusakabe","year":"2006","journal-title":"Thyroid Mol Endocrinol"},{"key":"ref381","first-page":"1","article-title":"syndrome a patient with a severe multi - system disorder due to a de novo mutation in the thyroid transcription factor gene","author":"Willemsen","year":"2005","journal-title":"Brain Thyroid Lung Eur J Pediatr"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jnnp.52.1.122","article-title":"involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency","author":"Doriguzzi","year":"1989","journal-title":"Endocrine J Neurol Psychiatry"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1136\/jnnp-2012-302505","article-title":"Benign hereditary chorea phenotype prognosis therapeutic outcome and long term follow - up in a large series with new mutations in the gene","author":"Gras","year":"2012","journal-title":"J Neurol Psychiatry"},{"key":"ref481","first-page":"317","article-title":"Case records of the Massachusetts General Hospital Weekly clinicopathological exercises Case year - old woman with an ocular motility disturbance myopathy and hypocalcemia","volume":"30","year":"1987","journal-title":"Engl J Med"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"3185","DOI":"10.1093\/emboj\/16.11.3185","article-title":"a new forkhead protein shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation","volume":"16","author":"Zannini","year":"1997","journal-title":"EMBO J"},{"key":"ref141","first-page":"145","article-title":"DA Autosomal dominant transmission of congenital hypothyroidism neonatal respiratory distress and ataxia caused by a mutation of","volume":"2","author":"Doyle","year":"2004","journal-title":"J Pediatr"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jnnp.52.1.122","article-title":"involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency","author":"Doriguzzi","year":"1989","journal-title":"Endocrine J Neurol Psychiatry"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1034\/j.1399-0004.2003.00107.x","article-title":"of the thyroid gland : lessons from congenitally hypothyroid mice and men","author":"Van Vliet","year":"2003","journal-title":"Development Clin Genet"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0109\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:35:26Z","timestamp":1619055326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0109\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,1]]},"references-count":50,"journal-issue":{"issue":"3-4"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2013-0109","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1,1]]}}}