{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:24:54Z","timestamp":1789989894105,"version":"4.0.1"},"reference-count":78,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"DOI":"10.1210\/jc.2018-02065","type":"journal-article","created":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T14:06:46Z","timestamp":1552054006000},"page":"3157-3171","source":"Crossref","is-referenced-by-count":51,"title":["Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5860-7679","authenticated-orcid":false,"given":"Marie J E","family":"Walenkamp","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Emma Children\u2019s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmijn M L","family":"Robers","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gladys R J","family":"Zandwijken","sequence":"additional","affiliation":[{"name":"Dutch Growth Research Foundation, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermine A","family":"van Duyvenvoorde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilma","family":"Oostdijk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita C S","family":"Hokken-Koelega","sequence":"additional","affiliation":[{"name":"Dutch Growth Research Foundation, Rotterdam, Netherlands"},{"name":"Department of Pediatrics, Subdivision of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina G","family":"Kant","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Losekoot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,3,8]]},"reference":[{"issue":"1","key":"2019061421194828200_bib1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2010.08.005","article-title":"IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development","volume":"25","author":"Netchine","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"7","key":"2019061421194828200_bib2","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1007\/PL00000744","article-title":"Structure and function of the type 1 insulin-like growth factor receptor","volume":"57","author":"Adams","year":"2000","journal-title":"Cell Mol Life Sci"},{"issue":"1","key":"2019061421194828200_bib3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/ajmg.1320380117","article-title":"An infant with deletion of the distal long arm of chromosome 15 (q26.1\u2192qter) and loss of insulin-like growth factor 1 receptor gene","volume":"38","author":"Roback","year":"1991","journal-title":"Am J Med Genet"},{"issue":"1","key":"2019061421194828200_bib4","doi-asserted-by":"crossref","first-page":"E130","DOI":"10.1210\/jc.2010-1789","article-title":"Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2\u2192qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure","volume":"96","author":"Choi","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019061421194828200_bib5","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1002\/ajmg.a.36913","article-title":"Recurrent enlarged nuchal translucency: first trimester presentation of a familial 15q26\u2192qter deletion","volume":"167A","author":"Reiss","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"12","key":"2019061421194828200_bib6","doi-asserted-by":"crossref","first-page":"3447","DOI":"10.1210\/jcem.80.12.8530582","article-title":"Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15","volume":"80","author":"Siebler","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2019061421194828200_bib7","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1136\/jmg.38.9.617","article-title":"De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes","volume":"38","author":"T\u00f6nnies","year":"2001","journal-title":"J Med Genet"},{"issue":"12","key":"2019061421194828200_bib8","doi-asserted-by":"crossref","first-page":"5981","DOI":"10.1210\/jc.2002-021080","article-title":"Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene","volume":"88","author":"Okubo","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2019061421194828200_bib9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.a.20464","article-title":"Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus","volume":"126A","author":"Biggio","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"6","key":"2019061421194828200_bib10","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/sj.jp.7211301","article-title":"Terminal deletion of chromosome 15q26.1: case report and brief literature review","volume":"25","author":"Bhakta","year":"2005","journal-title":"J Perinatol"},{"issue":"6","key":"2019061421194828200_bib11","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ejmg.2007.08.003","article-title":"Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2\u2192qter","volume":"50","author":"Poot","year":"2007","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2019061421194828200_bib12","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1471-2350-9-2","article-title":"Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay","volume":"9","author":"Davidsson","year":"2008","journal-title":"BMC Med Genet"},{"issue":"2","key":"2019061421194828200_bib13","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/ajmg.a.30939","article-title":"Detection of an unexpected subtelomeric 15q26.2 \u2192 qter deletion in a little girl: clinical and cytogenetic studies","volume":"138A","author":"Pinson","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2019061421194828200_bib14","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.a.31581","article-title":"De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation","volume":"143A","author":"Rujirabanjerd","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"12","key":"2019061421194828200_bib15","doi-asserted-by":"crossref","first-page":"4717","DOI":"10.1210\/jc.2008-1502","article-title":"Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype","volume":"94","author":"Ester","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2019061421194828200_bib16","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/sj.ejhg.5201652","article-title":"Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1\u201315q26.2","volume":"14","author":"Slavotinek","year":"2006","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"2019061421194828200_bib17","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/ajmg.a.34440","article-title":"Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype","volume":"158A","author":"Jezela-Stanek","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2019061421194828200_bib18","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00431-016-2802-y","article-title":"Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance","volume":"176","author":"O\u2019Riordan","year":"2017","journal-title":"Eur J Pediatr"},{"issue":"23","key":"2019061421194828200_bib19","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1056\/NEJMoa010107","article-title":"IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation","volume":"349","author":"Abuzzahab","year":"2003","journal-title":"N Engl J Med"},{"issue":"8","key":"2019061421194828200_bib20","doi-asserted-by":"crossref","first-page":"4679","DOI":"10.1210\/jc.2004-1947","article-title":"Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation","volume":"90","author":"Kawashima","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2019061421194828200_bib21","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1210\/jc.2005-1597","article-title":"A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor","volume":"91","author":"Walenkamp","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019061421194828200_bib22","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1210\/jc.2008-1903","article-title":"Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay","volume":"94","author":"Fang","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019061421194828200_bib23","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1210\/jc.2009-1433","article-title":"Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation","volume":"95","author":"Kruis","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019061421194828200_bib24","doi-asserted-by":"crossref","first-page":"2316","DOI":"10.1210\/jc.2009-2404","article-title":"A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation","volume":"95","author":"Wallborn","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2019061421194828200_bib25","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1159\/000324957","article-title":"An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree","volume":"76","author":"Mohn","year":"2011","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"2019061421194828200_bib26","doi-asserted-by":"crossref","first-page":"E243","DOI":"10.1210\/jc.2011-2142","article-title":"Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)","volume":"97","author":"Fang","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019061421194828200_bib27","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1507\/endocrj.EJ11-0258","article-title":"Familial short stature with IGF-I receptor gene anomaly","volume":"59","author":"Kawashima","year":"2012","journal-title":"Endocr J"},{"issue":"2","key":"2019061421194828200_bib28","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/j.1365-2265.2012.04357.x","article-title":"Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation","volume":"77","author":"Kawashima","year":"2012","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"2019061421194828200_bib29","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/j.1365-2265.2012.04481.x","article-title":"Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene","volume":"78","author":"Labarta","year":"2013","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"2019061421194828200_bib30","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-12-0701","article-title":"Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations","volume":"168","author":"Gannag\u00e9-Yared","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"1-2","key":"2019061421194828200_bib31","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1515\/jpem-2014-0132","article-title":"Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance","volume":"28","author":"Burkhardt","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"6","key":"2019061421194828200_bib32","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1111\/cen.12791","article-title":"Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature","volume":"83","author":"Fujimoto","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"11","key":"2019061421194828200_bib33","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.22853","article-title":"A new homozygous IGF1R variant defines a clinically recognizable incomplete dominant form of SHORT syndrome","volume":"36","author":"Prontera","year":"2015","journal-title":"Hum Mutat"},{"issue":"6","key":"2019061421194828200_bib34","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1159\/000464143","article-title":"Expanding genetic and functional diagnoses of IGF1R haploinsufficiencies","volume":"87","author":"Ocaranza","year":"2017","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"2019061421194828200_bib35","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1530\/EJE-14-0541","article-title":"Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation","volume":"172","author":"Storr","year":"2015","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2019061421194828200_bib36","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1530\/EC-17-0038","article-title":"A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia","volume":"6","author":"Solomon-Zemler","year":"2017","journal-title":"Endocr Connect"},{"issue":"6","key":"2019061421194828200_bib37","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1530\/EJE-17-0453","article-title":"Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity","volume":"177","author":"Shapiro","year":"2017","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"2019061421194828200_bib38","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/cen.12317","article-title":"Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation","volume":"81","author":"Kawashima","year":"2014","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"11","key":"2019061421194828200_bib39","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1210\/jc.2017-02782","article-title":"IGF1R variants in patients with growth impairment: four novel variants and genotype-phenotype correlations","volume":"103","author":"Yang","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019061421194828200_bib40","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1038\/gim.2017.159","article-title":"Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature","volume":"20","author":"Hauer","year":"2018","journal-title":"Genet Med"},{"issue":"11","key":"2019061421194828200_bib41","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.3889\/oamjms.2018.416","article-title":"IGF1R gene alterations in children born small for gestitional age (SGA)","volume":"6","author":"Janchevska","year":"2018","journal-title":"Open Access Maced J Med Sci"},{"issue":"4","key":"2019061421194828200_bib42","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/cen.12048","article-title":"Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)","volume":"78","author":"Leal","year":"2013","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"2019061421194828200_bib43","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1210\/jc.2006-2354","article-title":"A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization","volume":"92","author":"Inagaki","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019061421194828200_bib44","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/cen.12555","article-title":"Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment","volume":"82","author":"Juanes","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"5","key":"2019061421194828200_bib45","doi-asserted-by":"crossref","first-page":"e38220","DOI":"10.1371\/journal.pone.0038220","article-title":"Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation","volume":"7","author":"M\u00fcller","year":"2012","journal-title":"PLoS One"},{"key":"2019061421194828200_bib46","unstructured":"Walenkamp MJE , RobersJML, WitJM, ZandwijkenGRJ, van DuyvenvoordeHA, OostdijkW, Hokken-KoelegaACS, KantSG, LosekootM. Data from: Phenotypic features and response to GH treatment of patients with a molecular defect of the IGF-1 receptor. Data Archiving and Networked Services (DANS) 2019. Deposited 24 January 2019. https:\/\/doi.org\/10.17026\/dans-293-he6k."},{"issue":"6","key":"2019061421194828200_bib47","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1530\/EJE-12-0565","article-title":"IGF receptor gene variants in normal adolescents: effect on stature","volume":"167","author":"Kansra","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2019061421194828200_bib48","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1159\/000355409","article-title":"Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study)","volume":"80","author":"de Graaff","year":"2013","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"2019061421194828200_bib49","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.beem.2010.09.012","article-title":"IGF1R mutations as cause of SGA","volume":"25","author":"Klammt","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"4","key":"2019061421194828200_bib50","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1159\/000338341","article-title":"IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature)","volume":"77","author":"Caliebe","year":"2012","journal-title":"Horm Res Paediatr"},{"issue":"6","key":"2019061421194828200_bib51","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1210\/jc.2007-1789","article-title":"Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2\u2192qter deletion detected by multiplex ligation probe amplification","volume":"93","author":"Walenkamp","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019061421194828200_bib52","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1159\/000380949","article-title":"Recombinant human growth hormone therapy in children with chromosome 15q26 deletion","volume":"83","author":"Ho","year":"2015","journal-title":"Horm Res Paediatr"},{"issue":"9","key":"2019061421194828200_bib53","first-page":"3064","article-title":"Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial","volume":"84","author":"Sas","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019061421194828200_bib54","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"2","key":"2019061421194828200_bib55","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver\u2013Russell syndrome: first international consensus statement","volume":"13","author":"Wakeling","year":"2017","journal-title":"Nat Rev Endocrinol"},{"issue":"8\u20139","key":"2019061421194828200_bib56","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1111\/j.1651-2227.1991.tb11945.x","article-title":"An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977\u20131981)","volume":"80","author":"Niklasson","year":"1991","journal-title":"Acta Paediatr Scand"},{"issue":"3","key":"2019061421194828200_bib57","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/pr.2012.189","article-title":"The world\u2019s tallest nation has stopped growing taller: the height of Dutch children from 1955 to 2009","volume":"73","author":"Sch\u00f6nbeck","year":"2013","journal-title":"Pediatr Res"},{"key":"2019061421194828200_bib58","first-page":"1","article-title":"Growth diagrams 1980: Netherlands third nationwide survey","volume":"63","author":"Roede","year":"1985","journal-title":"Tijdschr Soc Gezondheidsz"},{"issue":"4","key":"2019061421194828200_bib59","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1080\/030144699282999","article-title":"Centiles of body mass index for Dutch children aged 0\u201320 years in 1980\u2014a baseline to assess recent trends in obesity","volume":"26","author":"Cole","year":"1999","journal-title":"Ann Hum Biol"},{"issue":"3","key":"2019061421194828200_bib60","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1203\/00006450-200003000-00006","article-title":"Continuing positive secular growth change in The Netherlands 1955\u20131997","volume":"47","author":"Fredriks","year":"2000","journal-title":"Pediatr Res"},{"key":"2019061421194828200_bib61","author":"Greulich"},{"issue":"5","key":"2019061421194828200_bib62","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1210\/jc.2013-3059","article-title":"Reference intervals for insulin-like growth factor-1 (IGF-I) from birth to senescence: results from a multicenter study using a new automated chemiluminescence IGF-I immunoassay conforming to recent international recommendations","volume":"99","author":"Bidlingmaier","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2019061421194828200_bib63","first-page":"166","article-title":"Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency","volume":"50","author":"Rikken","year":"1998","journal-title":"Horm Res"},{"issue":"1","key":"2019061421194828200_bib64","doi-asserted-by":"crossref","first-page":"852967","DOI":"10.1186\/1687-9856-2010-852967","article-title":"The auxological and biochemical continuum of short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature)","volume":"2010","author":"Caliebe","year":"2010","journal-title":"Int J Pediatr Endocrinol"},{"issue":"8","key":"2019061421194828200_bib65","doi-asserted-by":"crossref","first-page":"3584","DOI":"10.1210\/jc.2002-021172","article-title":"Adult height after long-term, continuous growth hormone (GH) treatment in short children born small for gestational age: results of a randomized, double-blind, dose-response GH trial","volume":"88","author":"Van Pareren","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2019061421194828200_bib66","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1210\/jc.2005-1663","article-title":"High serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) during high-dose GH treatment in short children born small for gestational age","volume":"91","author":"van Dijk","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019061421194828200_bib67","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1046\/j.1365-2265.2003.01905.x","article-title":"GH treatment and its effect on bone mineral density, bone maturation and growth in short children born small for gestational age: 3-year results of a randomized, controlled GH trial","volume":"59","author":"Arends","year":"2003","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"11","key":"2019061421194828200_bib68","doi-asserted-by":"crossref","first-page":"4096","DOI":"10.1210\/jc.2012-1987","article-title":"Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial","volume":"97","author":"Lem","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"2019061421194828200_bib69","doi-asserted-by":"crossref","unstructured":"Rosenfeld RG , von SteinT. A database and website for molecular defects of the GH-IGF axis: www.growthgenetics.com. Horm Res Paediatr. 2013;80(6):443\u2013448.","DOI":"10.1159\/000355543"},{"issue":"2","key":"2019061421194828200_bib70","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1210\/jc.2016-3313","article-title":"Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations","volume":"102","author":"Gkourogianni","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2019061421194828200_bib71","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/cen.13581","article-title":"Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature","volume":"88","author":"Sentchordi-Montan\u00e9","year":"2018","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"2019061421194828200_bib72","doi-asserted-by":"crossref","first-page":"e519","DOI":"10.1542\/peds.2009-0293","article-title":"Impact of growth hormone therapy on adult height of children born small for gestational age","volume":"124","author":"Maiorana","year":"2009","journal-title":"Pediatrics"},{"issue":"6","key":"2019061421194828200_bib73","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1210\/er.2018-00083","article-title":"Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications","volume":"39","author":"Finken","year":"2018","journal-title":"Endocr Rev"},{"issue":"7","key":"2019061421194828200_bib74","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1023\/A:1018581407804","article-title":"Localization of the insulin-like growth factor I receptor in the cerebellum and hypothalamus of adult rats: an electron microscopic study","volume":"26","author":"Garcia-Segura","year":"1997","journal-title":"J Neurocytol"},{"issue":"2","key":"2019061421194828200_bib75","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1677\/joe.1.05866","article-title":"Appetite control","volume":"184","author":"Wynne","year":"2005","journal-title":"J Endocrinol"},{"issue":"3","key":"2019061421194828200_bib76","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.ajhg.2016.06.032","article-title":"DNA methylation profiling of uniparental disomy subjects provides a map of parental epigenetic bias in the human genome","volume":"99","author":"Joshi","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"15","key":"2019061421194828200_bib77","doi-asserted-by":"crossref","first-page":"9588","DOI":"10.1093\/nar\/gku549","article-title":"A novel antisense long noncoding RNA within the IGF1R gene locus is imprinted in hematopoietic malignancies","volume":"42","author":"Sun","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2019061421194828200_bib78","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/andr.12444","article-title":"Effects of the insulin-like growth factor system on testicular differentiation and function: a review of the literature","volume":"6","author":"Cannarella","year":"2018","journal-title":"Andrology"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/8\/3157\/28832301\/jc.2018-02065.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,29]],"date-time":"2020-11-29T20:35:06Z","timestamp":1606682106000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/8\/3157\/5371249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,8]]},"references-count":78,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2019,3,8]]},"published-print":{"date-parts":[[2019,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-02065","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,8]]},"published":{"date-parts":[[2019,3,8]]}}}