{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:00:57Z","timestamp":1791993657026,"version":"4.4.0"},"reference-count":44,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"SERB, Department of Science and Technology, New Delhi, India","award":["SR\/FT\/LS-177\/2009"],"award-info":[{"award-number":["SR\/FT\/LS-177\/2009"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Growth Hormone & IGF Research"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1016\/j.ghir.2016.04.001","type":"journal-article","created":{"date-parts":[[2016,4,17]],"date-time":"2016-04-17T21:21:58Z","timestamp":1460928118000},"page":"50-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency"],"prefix":"10.1016","volume":"29","author":[{"given":"Shweta","family":"Birla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Khadgawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viveka P.","family":"Jyotsna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.K.","family":"Garg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashu Seith","family":"Bhalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arundhati","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ghir.2016.04.001_bb0005","doi-asserted-by":"crossref","first-page":"52","DOI":"10.4274\/jcrpe.v2i2.52","article-title":"Genetics of isolated growth hormone deficiency","volume":"2","author":"Mullis","year":"2010","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0010","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1080\/03014467700002511","article-title":"National study of health and growth: standards of attained height, weight and triceps skinfold in English children 5 to 11years old","volume":"4","author":"Rona","year":"1977","journal-title":"Ann. Hum. Biol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0015","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1136\/bmj.2.6084.427","article-title":"Prevalence of severe growth hormone deficiency","volume":"2","author":"Vimpani","year":"1977","journal-title":"Br. Med. J."},{"key":"10.1016\/j.ghir.2016.04.001_bb0020","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390050815","article-title":"The molecular genetics of growth hormone deficiency","volume":"103","author":"Procter","year":"1998","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0025","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/S0065-3101(23)00123-8","article-title":"Growth disorders caused by genetic defects in the growth hormone pathway","volume":"45","author":"Cogan","year":"1998","journal-title":"Adv. Pediatr."},{"key":"10.1016\/j.ghir.2016.04.001_bb0030","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ghir.2016.04.001_bb0035","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/0888-7543(89)90271-1","article-title":"The human growth hormone locus: nucleotide sequence, biology, and evolution","volume":"4","author":"Chen","year":"1989","journal-title":"Genomics"},{"key":"10.1016\/j.ghir.2016.04.001_bb0040","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1210\/jc.2002-020269","article-title":"A novel IVS2\u20132A_T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population","volume":"88","author":"Fofanova","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0045","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1093\/jnci\/94.6.454","article-title":"R. Association of a common polymorphism in the human GH1 gene with colorectal neoplasia","volume":"94","author":"Marchand","year":"2002","journal-title":"J. Natl. Cancer Inst."},{"key":"10.1016\/j.ghir.2016.04.001_bb0050","first-page":"917","article-title":"Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene","volume":"84","author":"Salvatori","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0055","first-page":"432","article-title":"Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene","volume":"83","author":"Netchine","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0060","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng0196-88","article-title":"Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse","volume":"12","author":"Wajnrajch","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0065","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ghir.2016.04.001_bb0070","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0075","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/nrendo.2010.147","article-title":"Genetic causes and treatment of isolated growth hormone deficiency\u2014an update","volume":"6","author":"Alatzoglou","year":"2010","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0080","first-page":"11","article-title":"Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency","volume":"78","author":"Phillips","year":"1994","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0085","first-page":"105","article-title":"Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency","volume":"43","author":"Wagner","year":"1998","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ghir.2016.04.001_bb0090","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1210\/jc.2008-2783","article-title":"Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency","volume":"94","author":"Alatzoglou","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0095","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1210\/endo.141.3.7380","article-title":"Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH","volume":"141","author":"Lee","year":"2000","journal-title":"Endocrinology"},{"key":"10.1016\/j.ghir.2016.04.001_bb0100","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1210\/en.2002-220847","article-title":"Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice","volume":"144","author":"McGuinness","year":"2003","journal-title":"Endocrinology"},{"key":"10.1016\/j.ghir.2016.04.001_bb0105","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/humu.10167","article-title":"Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region","volume":"21","author":"Horan","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ghir.2016.04.001_bb0110","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.mce.2006.01.006","article-title":"A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity","volume":"249","author":"Giordano","year":"2006","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0115","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1006\/geno.1994.1045","article-title":"Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization","volume":"19","author":"Gaylinn","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.ghir.2016.04.001_bb0120","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/BF00354940","article-title":"Human growth hormone-releasing hormone receptor (GHRHR) maps to a YAC at chromosome 7p15","volume":"5","author":"Wajnrajch","year":"1994","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ghir.2016.04.001_bb0125","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1210\/mend-1-2-137","article-title":"Differential activation of type I and type II 39, 59-cyclic adenosine monophosphate-dependent protein kinases by growth hormone-releasing factor","volume":"1","author":"Bilezikjian","year":"1987","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0130","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1210\/endo.141.6.7513","article-title":"Growth hormone-releasing hormone stimulates mitogen-activated protein kinase","volume":"141","author":"Pombo","year":"2000","journal-title":"Endocrinology"},{"key":"10.1016\/j.ghir.2016.04.001_bb0135","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/jcp.21295","article-title":"GHrH proliferative action on somatotrophs is cell-type specific and dependent on Pit-1\/GHF-1 expression","volume":"215","author":"Solloso","year":"2008","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0140","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1651-2227.1997.tb18366.x","article-title":"The dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene","volume":"423","author":"Baumann","year":"1997","journal-title":"Acta Pediatr. Scand."},{"key":"10.1016\/j.ghir.2016.04.001_bb0145","first-page":"4065","article-title":"Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh","volume":"83","author":"Maheshwari","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ghir.2016.04.001_bb0150","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s12098-013-0982-2","article-title":"Molecular genetic studies in isolated growth hormone deficiency (IGHD)","volume":"80","author":"Desai","year":"2013","journal-title":"Indian J. Pediatr."},{"key":"10.1016\/j.ghir.2016.04.001_bb0155","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s12098-011-0588-5","article-title":"Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD)","volume":"79","author":"Desai","year":"2012","journal-title":"Indian J. Pediatr."},{"key":"10.1016\/j.ghir.2016.04.001_bb0160","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ghir.2013.03.003","article-title":"Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency","volume":"23","author":"Soneda","year":"2013","journal-title":"Growth Hormon. IGF Res."},{"key":"10.1016\/j.ghir.2016.04.001_bb0165","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/j.1365-2265.2004.02003.x","article-title":"Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene","volume":"60","author":"Alba","year":"2004","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0170","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000342760","article-title":"GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects","volume":"78","author":"Marui","year":"2012","journal-title":"Horm. Res. Paediatr."},{"key":"10.1016\/j.ghir.2016.04.001_bb0175","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1530\/eje.0.1480427","article-title":"Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene","volume":"148","author":"Oliveira","year":"2003","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0180","series-title":"The Pituitary","first-page":"3","article-title":"The hypothalamic\u2013pituitary axis","author":"Asa","year":"1995"},{"key":"10.1016\/j.ghir.2016.04.001_bb0185","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1101\/gad.12.11.1691","article-title":"Multistep signaling requirements for pituitary organogenesis in vivo","volume":"12","author":"Treier","year":"1998","journal-title":"Genes Dev."},{"key":"10.1016\/j.ghir.2016.04.001_bb0190","doi-asserted-by":"crossref","first-page":"202","DOI":"10.4274\/jcrpe.1518","article-title":"Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency","volume":"6","author":"Arman","year":"2014","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0195","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1677\/joe.1.06213","article-title":"Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding","volume":"186","author":"Alba","year":"2005","journal-title":"J. Endocrinol."},{"key":"10.1016\/j.ghir.2016.04.001_bb0200","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.tig.2011.02.004","article-title":"Genetic therapies for RNA mis-splicing diseases","volume":"27","author":"Hammond","year":"2011","journal-title":"Trends Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0205","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng0795-259","article-title":"S. How neutral are synonymous codon mutations?","volume":"10","author":"Richard","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0210","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng0395-232","article-title":"Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome","volume":"10","author":"Li","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ghir.2016.04.001_bb0215","doi-asserted-by":"crossref","first-page":"7324","DOI":"10.1016\/S0021-9258(19)39117-3","article-title":"A \u201cG\u201d to \u201cA\u201d mutation at position-1 of a 5\u2032 splice site in a late infantile form of Tay-Sachs disease","volume":"265","author":"Akli","year":"1990","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ghir.2016.04.001_bb0220","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1006\/bbrc.2000.3247","article-title":"A polymorphism in the growth hormone (GH)-releasing hormone (GHRH) receptor gene is associated with elevated response to GHRH by human pituitary somatotrophinomas in vitro","volume":"275","author":"Adams","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Growth Hormone & IGF Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096637416300168?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096637416300168?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T22:50:09Z","timestamp":1761087009000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096637416300168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8]]},"references-count":44,"alternative-id":["S1096637416300168"],"URL":"https:\/\/doi.org\/10.1016\/j.ghir.2016.04.001","relation":{},"ISSN":["1096-6374"],"issn-type":[{"value":"1096-6374","type":"print"}],"subject":[],"published":{"date-parts":[[2016,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency","name":"articletitle","label":"Article Title"},{"value":"Growth Hormone & IGF Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ghir.2016.04.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}