BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99:3080-92. [PMID: 24915122 DOI: 10.1210/jc.2014-1506] [Cited by in Crossref: 67] [Cited by in F6Publishing: 60] [Article Influence: 8.4] [Reference Citation Analysis]
Number Citing Articles
1 Ouni M, Castell A, Rothenbuhler A, Linglart A, Bougnères P. Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature. Clin Endocrinol 2016;84:216-21. [DOI: 10.1111/cen.12867] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.1] [Reference Citation Analysis]
2 Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL, Dyment DA, Boycott KM, Clericuzio CL; Care4Rare Canada Consortium. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. Clin Genet 2018;94:303-12. [PMID: 29851065 DOI: 10.1111/cge.13388] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
3 Liao L, Gan HW, Hwa V, Dattani M, Dauber A. Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. Horm Res Paediatr 2017;88:364-70. [PMID: 28675896 DOI: 10.1159/000477907] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
4 Cabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Feld A, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A; the Genomics Research and Innovation Network. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Horm Res Paediatr 2019;92:186-95. [PMID: 31865343 DOI: 10.1159/000504884] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
5 Sanguineti N, Braslavsky D, Scaglia PA, Keselman A, Ballerini MG, Ropelato MG, Suco S, Vishnopolska S, Berenstein AJ, Jasper H, Domené HM, Rey RA, Pérez Millán MI, Camper SA, Bergadá I. p.R209H GH1 variant challenges short stature assessment. Growth Horm IGF Res 2020;50:23-6. [PMID: 31835104 DOI: 10.1016/j.ghir.2019.11.002] [Reference Citation Analysis]
6 Wit JM, Bidlingmaier M, de Bruin C, Oostdijk W. A Proposal for the Interpretation of Serum IGF-I Concentration as Part of Laboratory Screening in Children with Growth Failure. J Clin Res Pediatr Endocrinol 2020;12:130-9. [PMID: 31842524 DOI: 10.4274/jcrpe.galenos.2019.2019.0176] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
7 Dauber A. Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm? J Clin Endocrinol Metab 2019;104:2766-9. [PMID: 30753512 DOI: 10.1210/jc.2019-00019] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 4.5] [Reference Citation Analysis]
8 Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med 2021;23:813-5. [PMID: 33514815 DOI: 10.1038/s41436-020-01046-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Fadel IM, Ragab MH, Eid OM, Helmy NA, El-Bassyouni HT, Mazen I. IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children. J Genet Eng Biotechnol 2021;19:109. [PMID: 34322776 DOI: 10.1186/s43141-021-00202-6] [Reference Citation Analysis]
10 Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. J Pediatr Endocrinol Metab 2015;28:927-32. [PMID: 25741789 DOI: 10.1515/jpem-2014-0450] [Cited by in Crossref: 34] [Cited by in F6Publishing: 32] [Article Influence: 5.7] [Reference Citation Analysis]
11 Mastromauro C, Chiarelli F; Department of Paediatrics, University of Chieti, Chieti, Italy, Department of Paediatrics, University of Chieti, Chieti, Italy. Novel Insights Into the Genetic Causes of Short Stature in Children. Endocrinology 2022;18:49. [DOI: 10.17925/ee.2022.18.1.49] [Reference Citation Analysis]
12 Ansari H, Mohammadi-Asl J, Hajjari M, Tahmasebi-Birgani M, Kollaee A, Jassemi-Zergani F, Vakili-Hajiagha A. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia. J Gene Med 2019;21:e3103. [PMID: 31177591 DOI: 10.1002/jgm.3103] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
13 Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. Eur J Hum Genet 2021;29:110-21. [PMID: 32647378 DOI: 10.1038/s41431-020-0676-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
14 Bogarín R, Richmond E, Rogol AD. A new approach to the diagnosis of short stature. Minerva Pediatr 2020;72:250-62. [PMID: 33045802 DOI: 10.23736/S0026-4946.20.05835-1] [Reference Citation Analysis]
15 Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y. Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes. Eur J Med Genet 2020;63:104074. [PMID: 32980524 DOI: 10.1016/j.ejmg.2020.104074] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
16 Rosenfeld RG. The future of growth-promoting therapy. Growth Horm IGF Res 2016;28:43-5. [PMID: 26654694 DOI: 10.1016/j.ghir.2015.11.003] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
17 Guo M, Liu Z, Willen J, Shaw CP, Richard D, Jagoda E, Doxey AC, Hirschhorn J, Capellini TD. Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. Elife 2017;6:e29329. [PMID: 29205154 DOI: 10.7554/eLife.29329] [Cited by in Crossref: 23] [Cited by in F6Publishing: 14] [Article Influence: 4.6] [Reference Citation Analysis]
18 Murray PG, Clayton PE, Chernausek SD. A genetic approach to evaluation of short stature of undetermined cause. The Lancet Diabetes & Endocrinology 2018;6:564-74. [DOI: 10.1016/s2213-8587(18)30034-2] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 6.5] [Reference Citation Analysis]
19 Rapaport R, Wit JM, Savage MO. Growth failure: 'idiopathic' only after a detailed diagnostic evaluation. Endocr Connect 2021;10:R125-38. [PMID: 33543731 DOI: 10.1530/EC-20-0585] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
20 He D, Li Y, Yang W, Chen S, Sun H, Li P, Zhang M, Ban B. Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone. Clin Chim Acta 2022;524:1-10. [PMID: 34826401 DOI: 10.1016/j.cca.2021.11.021] [Reference Citation Analysis]
21 Plachy L, Strakova V, Elblova L, Obermannova B, Kolouskova S, Snajderova M, Zemkova D, Dusatkova P, Sumnik Z, Lebl J, Pruhova S. High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH. J Clin Endocrinol Metab 2019;104:4273-81. [PMID: 30753492 DOI: 10.1210/jc.2018-02288] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 9.5] [Reference Citation Analysis]
22 Wit JM, Deeb A, Bin-Abbas B, Al Mutair A, Koledova E, Savage MO. Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy. J Clin Res Pediatr Endocrinol 2019;11:329-40. [PMID: 31284701 DOI: 10.4274/jcrpe.galenos.2019.2019.0088] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
23 Miclea D, Alkhzouz C, Bucerzan S, Grigorescu-Sido P. Genetic testing in pediatric endocrine pathology. Med Pharm Rep 2021;94:S15-8. [PMID: 34527901 DOI: 10.15386/mpr-2220] [Reference Citation Analysis]
24 Canton AP, Nishi MY, Furuya TK, Roela RA, Jorge AA. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature. Am J Med Genet A 2016;170A:1046-9. [PMID: 26689153 DOI: 10.1002/ajmg.a.37521] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
25 Kaplan DS, Canak A, Isık E, Orkmez M, Kumru B. Relationship of fibroblast growth factor 21, sirtuin 1, visfatin, and regulators in children with short stature. Growth Factors 2018;36:172-7. [PMID: 30304969 DOI: 10.1080/08977194.2018.1513504] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
26 Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Clinical profiles and genetic spectra of 814 Chinese children with short stature. J Clin Endocrinol Metab 2021:dgab863. [PMID: 34850017 DOI: 10.1210/clinem/dgab863] [Reference Citation Analysis]
27 Kautsar A, Wit JM, Pulungan A. Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report. J Clin Res Pediatr Endocrinol 2019;11:426-31. [PMID: 30678423 DOI: 10.4274/jcrpe.galenos.2019.2018.0305] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
28 Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK. An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing. Ann Pediatr Endocrinol Metab 2017;22:203-7. [PMID: 29025208 DOI: 10.6065/apem.2017.22.3.203] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
29 Capkova P, Capkova Z, Rohon P, Adamová K, Zapletalova J. Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies. PeerJ 2020;8:e10236. [PMID: 33240610 DOI: 10.7717/peerj.10236] [Reference Citation Analysis]
30 Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 2015;11:735-46. [PMID: 26437621 DOI: 10.1038/nrendo.2015.165] [Cited by in Crossref: 156] [Cited by in F6Publishing: 134] [Article Influence: 22.3] [Reference Citation Analysis]
31 Meler E, Sisterna S, Borrell A. Genetic syndromes associated with isolated fetal growth restriction. Prenat Diagn 2020;40:432-46. [PMID: 31891188 DOI: 10.1002/pd.5635] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 4.5] [Reference Citation Analysis]
32 Hochstenbach R, van Binsbergen E, Schuring-Blom H, Buijs A, Ploos van Amstel HK. A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing. Eur J Med Genet 2019;62:103543. [PMID: 30248410 DOI: 10.1016/j.ejmg.2018.09.010] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
33 Kamil G, Yoon JY, Yoo S, Cheon CK. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet J Rare Dis 2021;16:297. [PMID: 34217350 DOI: 10.1186/s13023-021-01937-8] [Reference Citation Analysis]
34 Mancini A, Magnotto JC, Abreu AP. Genetics of pubertal timing. Best Practice & Research Clinical Endocrinology & Metabolism 2022. [DOI: 10.1016/j.beem.2022.101618] [Reference Citation Analysis]
35 Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y, Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y; Chinese Genetic Short Stature Consortium. Novel pathogenic ACAN variants in non-syndromic short stature patients. Clin Chim Acta 2017;469:126-9. [PMID: 28396070 DOI: 10.1016/j.cca.2017.04.004] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 4.0] [Reference Citation Analysis]
36 Domené HM, Fierro-Carrión G. Genetic disorders of GH action pathway. Growth Horm IGF Res 2018;38:19-23. [PMID: 29249625 DOI: 10.1016/j.ghir.2017.12.004] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 2.4] [Reference Citation Analysis]
37 Collett-solberg PF, Jorge AA, Boguszewski MC, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, Saenger P. Growth hormone therapy in children; research and practice – A review. Growth Hormone & IGF Research 2019;44:20-32. [DOI: 10.1016/j.ghir.2018.12.004] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
38 Guo MH, Hirschhorn JN, Dauber A. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab 2018;103:3155-68. [PMID: 29982553 DOI: 10.1210/jc.2018-01126] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
39 Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep 2019;12:e224197. [PMID: 31151966 DOI: 10.1136/bcr-2018-224197] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
40 Dauber A. New genetic tools in the diagnosis of growth defects. Growth Horm IGF Res 2018;38:24-8. [PMID: 29157920 DOI: 10.1016/j.ghir.2017.11.002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
41 Hu G, Fan Y, Wang L, Yao RE, Huang X, Shen Y, Yu Y, Gu X. Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. Mol Cytogenet 2016;9:16. [PMID: 26884814 DOI: 10.1186/s13039-016-0225-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
42 Walleczek NK, Förster K, Seyr M, Kadrnoska N, Kolar J, Wasinger-Brandweiner V, Vodopiutz J. Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management. Wien Med Wochenschr 2021;171:94-101. [PMID: 33689085 DOI: 10.1007/s10354-021-00820-2] [Reference Citation Analysis]
43 Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes. EBioMedicine 2018;36:390-400. [PMID: 30266296 DOI: 10.1016/j.ebiom.2018.09.026] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
44 de Bruin C, Dauber A. Insights from exome sequencing for endocrine disorders. Nat Rev Endocrinol 2015;11:455-64. [PMID: 25963271 DOI: 10.1038/nrendo.2015.72] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 4.0] [Reference Citation Analysis]
45 Marchini A, Ogata T, Rappold GA. A Track Record on SHOX: From Basic Research to Complex Models and Therapy. Endocr Rev 2016;37:417-48. [PMID: 27355317 DOI: 10.1210/er.2016-1036] [Cited by in Crossref: 46] [Cited by in F6Publishing: 38] [Article Influence: 7.7] [Reference Citation Analysis]
46 Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. J Pediatr 2019;215:192-8. [PMID: 31630891 DOI: 10.1016/j.jpeds.2019.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
47 Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CAL, Kant SG. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. European Journal of Endocrinology 2016;174:R145-73. [DOI: 10.1530/eje-15-0937] [Cited by in Crossref: 75] [Cited by in F6Publishing: 40] [Article Influence: 12.5] [Reference Citation Analysis]
48 Ahn J, Oh J, Suh J, Song K, Kwon A, Chae HW, Oh JS, Lee HI, Lee MS, Kim HS. Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Mol Cell Endocrinol 2021;:111489. [PMID: 34653508 DOI: 10.1016/j.mce.2021.111489] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
49 Tijjani A, Utsunomiya YT, Ezekwe AG, Nashiru O, Hanotte O. Genome Sequence Analysis Reveals Selection Signatures in Endangered Trypanotolerant West African Muturu Cattle. Front Genet 2019;10:442. [PMID: 31231417 DOI: 10.3389/fgene.2019.00442] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
50 Ogawa S, Matsuzaki T, Noda M. Abundant expression of the membrane-anchored protease-regulator RECK in the anterior pituitary gland and its implication in the growth hormone/insulin-like growth factor 1 axis in mice. Mol Cell Endocrinol 2020;508:110790. [PMID: 32165171 DOI: 10.1016/j.mce.2020.110790] [Reference Citation Analysis]
51 Nagao H, Cai W, Wewer Albrechtsen NJ, Steger M, Batista TM, Pan H, Dreyfuss JM, Mann M, Kahn CR. Distinct signaling by insulin and IGF-1 receptors and their extra- and intracellular domains. Proc Natl Acad Sci U S A 2021;118:e2019474118. [PMID: 33879610 DOI: 10.1073/pnas.2019474118] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
52 Nikith Z, Sannappa R, Sarathi V. A novel GHR variant in the first patient of Indian origin with genetically proven growth hormone insensitivity. Indian J Endocr Metab 2022;26:190. [DOI: 10.4103/ijem.ijem_24_22] [Reference Citation Analysis]
53 Domené S, Scaglia PA, Gutiérrez ML, Domené HM. Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development. Cells 2021;10:2063. [PMID: 34440832 DOI: 10.3390/cells10082063] [Reference Citation Analysis]
54 Cirillo F, Lazzeroni P, Catellani C, Sartori C, Amarri S, Street ME. MicroRNAs link chronic inflammation in childhood to growth impairment and insulin-resistance. Cytokine & Growth Factor Reviews 2018;39:1-18. [DOI: 10.1016/j.cytogfr.2017.12.004] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 3.3] [Reference Citation Analysis]
55 Romero CJ, Mehta L, Rapaport R. Genetic Techniques in the Evaluation of Short Stature. Endocrinology and Metabolism Clinics of North America 2016;45:345-58. [DOI: 10.1016/j.ecl.2016.02.006] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
56 Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. J Clin Endocrinol Metab 2018;103:604-14. [PMID: 29155992 DOI: 10.1210/jc.2017-02026] [Cited by in Crossref: 26] [Cited by in F6Publishing: 23] [Article Influence: 6.5] [Reference Citation Analysis]
57 Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. J Clin Endocrinol Metab 2021;106:e2711-9. [PMID: 33606014 DOI: 10.1210/clinem/dgab088] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
58 Finken MJJ, van der Steen M, Smeets CCJ, Walenkamp MJE, de Bruin C, Hokken-Koelega ACS, Wit JM. Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications. Endocr Rev 2018;39:851-94. [PMID: 29982551 DOI: 10.1210/er.2018-00083] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 11.7] [Reference Citation Analysis]
59 Tornese G. Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy". J Clin Endocrinol Metab 2019;104:5116-7. [PMID: 31290976 DOI: 10.1210/jc.2019-01270] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
60 Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group. Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. J Pediatr Endocrinol Metab 2020;33:1335-9. [PMID: 32866124 DOI: 10.1515/jpem-2020-0198] [Reference Citation Analysis]
61 Braun LR, Marino R. Disorders of Growth and Stature. Pediatr Rev 2017;38:293-304. [PMID: 28667232 DOI: 10.1542/pir.2016-0178] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.8] [Reference Citation Analysis]
62 Hwang JS, Lee HS, Lee KH, Yoo HW, Lee DY, Suh BK, Ko CW, Chung WY, Jin DK, Shin CH, Han HS, Han S, Kim HS. Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study. Horm Res Paediatr 2018;90:54-63. [PMID: 29925064 DOI: 10.1159/000489262] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
63 Rotwein P. Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms. J Biol Chem 2017;292:9252-61. [PMID: 28389567 DOI: 10.1074/jbc.M117.783639] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 2.6] [Reference Citation Analysis]
64 Fideleff HL, Boquete HR, Suárez MG, Azaretzky M. Burden of Growth Hormone Deficiency and Excess in Children. Prog Mol Biol Transl Sci 2016;138:143-66. [PMID: 26940390 DOI: 10.1016/bs.pmbts.2015.10.009] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.6] [Reference Citation Analysis]
65 Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM. Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. Am J Case Rep 2021;22:e930824. [PMID: 34057920 DOI: 10.12659/AJCR.930824] [Reference Citation Analysis]
66 Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, Woelfle J. Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. Horm Res Paediatr 2019;92:1-14. [PMID: 31514194 DOI: 10.1159/000502231] [Cited by in Crossref: 60] [Cited by in F6Publishing: 48] [Article Influence: 20.0] [Reference Citation Analysis]
67 Wu S, Wang C, Cao Q, Zhu Z, Liu Q, Gu X, Zheng B, Zhou W, Jia Z, Gu W, Li X. The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation. Front Genet 2022;13:891040. [PMID: 35620465 DOI: 10.3389/fgene.2022.891040] [Reference Citation Analysis]
68 Noorian S, Khonsari NM, Savad S, Hakak-Zargar B, Voth T, Kabir K. Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth. J Pediatr Genet 2021;10:284-91. [PMID: 34849273 DOI: 10.1055/s-0040-1716400] [Reference Citation Analysis]
69 Savage MO, Storr HL. Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches. Ann Pediatr Endocrinol Metab 2021;26:218-26. [PMID: 34991299 DOI: 10.6065/apem.2142208.104] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
70 Hughes IP, Choong C, Rath S, Atkinson H, Cotterill A, Cutfield W, Hofman P, Harris M. Early cessation and non-response are important and possibly related problems in growth hormone therapy: An OZGROW analysis. Growth Horm IGF Res 2016;29:63-70. [PMID: 27179230 DOI: 10.1016/j.ghir.2016.04.006] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
71 Marzec M, Hawkes CP, Eletto D, Boyle S, Rosenfeld R, Hwa V, Wit JM, van Duyvenvoorde HA, Oostdijk W, Losekoot M, Pedersen O, Yeap BB, Flicker L, Barzilai N, Atzmon G, Grimberg A, Argon Y. A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production. Endocrinology 2016;157:1914-28. [PMID: 26982636 DOI: 10.1210/en.2015-2058] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 1.7] [Reference Citation Analysis]
72 Wang Y, Ge J, Ma J, Qiao L, Li T. Short stature with precocious puberty caused by aggrecan gene mutation: A case report. Medicine (Baltimore) 2020;99:e21635. [PMID: 32846772 DOI: 10.1097/MD.0000000000021635] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]