| 1 | GPC3, GPC3, GPC6, NDAS, OMD, SGBS
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| Pathogenic Variants in GPC4 Cause Keipert Syndrome.
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| Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.
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| Am J Hum Genet 104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.
2019
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| 2 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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| 3 | GPC3, SGBS
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| A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
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| Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC.
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| Am J Med Genet A m J Med Genet A. 2013 Oct 2. doi: 10.1002/ajmg.a.36086. [Epub ahead of print]
2013
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| 4 | GPC3, SGBS
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| Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.
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| Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN.
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| Clin Genet 80(5):466-71. doi: 10.1111/j.1399-0004.2010.01554.x. Epub 2010 Oct 18.
2011
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| 5 | GPC4, SGBS
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| Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.
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| Waterson J, Stockley TL, Segal S, Golabi M.
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| Am J Med Genet A 152A(12):3179-81. doi: 10.1002/ajmg.a.33450. No abstract available.
2010
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| 6 | GPC3, SGBS
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| A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface.
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| Shi W, Filmus J.
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| Am J Med Genet A 149A(3):552-4. No abstract available.
2009
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| 7 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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| 8 | GPC3, SGBS
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| Expression pattern of glypican-3 (GPC3) during human embryonic and fetal development.
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| Iglesias BV, Centeno G, Pascuccelli H, Ward F, Peters MG, Filmus J, Puricelli L, de Kier Joffé EB.
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| Histol Histopathol 23(11):1333-40.
2008
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| 9 | GPC3, SGBS
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| Glypican-3-mediated oncogenesis involves the Insulin-like growth factor-signaling pathway.
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| Cheng W, Tseng CJ, Lin TT, Cheng I, Pan HW, Hsu HC, Lee YM.
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| Carcinogenesis 29(7):1319-26. Epub 2008 Apr 15.
2008
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| 10 | GPC3, SGBS
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| GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
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| Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H.
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| Am J Med Genet A 143(15):1703-7. 2007
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| 11 | DPP4, GPC3, SGBS
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| The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26.
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| Davoodi J, Kelly J, Gendron NH, MacKenzie AE.
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| Proteomics 7(13):2300-10.
2007
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| 12 | SGBS, STO, WVSS1
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| Clinical and molecular overlap in overgrowth syndromes.
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| Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V.
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| Am J Med Genet C Semin Med Genet 137(1):4-11. 2005
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| 13 | GPC3, SGBS
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| The loss of glypican-3 induces alterations in Wnt signaling.
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| Song HH, Shi W, Xiang YY, Filmus J.
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| J Biol Chem 280(3):2116-25. Epub 2004 Nov 10. 2005
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| 14 | SGBS
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| Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.
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| Rodriguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, Gonzalez-Meneses A, Gomez de Terreros I, Valdez R, Gracia R, Lapunzina P.
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| Am J Med Genet A 138(3):272-7. 2005
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| 15 | GPC3, SGBS
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| Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
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| Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G.
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| Hum Mol Genet 9(9):1321-8. 2000
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| 16 | GPC3, SGBS
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| A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.
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| Xuan JY, Hughes-Benzie RM, MacKenzie AE.
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| J Med Genet 36 : 57-58. 1999
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| 17 | GPC3, SGBS
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| Overgrowth syndromes and the regulation of signaling complexes by proteoglycans.
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| Selleck SB.
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| Am J Hum Genet 64(2):372-7. Review. No abstract available 1999
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| 18 | SGBS
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| Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.
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| Neri G, et al.
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| Am J Med Genet 79 : 279-283. 1998
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| 19 | GPC3, SGBS
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| Multiple Sp1 sites efficiently drive transcription of the TATA-less promoter of the human glypican 3 (GPC3) gene.
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| Huber R, et al.
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| Gene 214 : 35-44. 1998
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| 20 | GPC3, SGBS
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| Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
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| Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G.
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| J Med Genet 34(6):480-3. 1997
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| 21 | GPC3, SGBS
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| Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene.
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| Huber R, Crisponi L, Mazzarella R, Chen CN, Su Y, Shizuya H, Chen EY, Cao A, Pilia G.
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| Genomics 45(1):48-58. 1997
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| 22 | GPC3, SGBS
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| Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
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| Pilia G, et al.
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| Nat Genet 12 : 241-247. 1996
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| 23 | SGBS
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| Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
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| Xuan JY, et al.
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| Hum Mol Genet 3 : 133-137. 1994
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| 24 | SGBS
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| Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.
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| Orth U, et al.
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| Am J Med Genet 50 : 388-390. 1994
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| 25 | SGBS
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| Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation.
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| Punnett HH.
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| Am J Med Genet 50 : 391-393. 1994
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| 26 | SGBS
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| Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor : localization of the gene to Xqcen-q21.
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| Hughes-Benzie RM, et al.
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| Am J Med Genet 43 : 428-435. 1992
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| 27 | SGBS
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| A new X-linked dysplasia gigantism syndrome : Identical with the Simpson dysplasia syndrome?
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| Behmel A, et al.
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| Hum Genet 67 : 409-413. 1984
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