| 1 | SHOX
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| Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
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| Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE.
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| Eur J Hum Genet 20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.
2012
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| 2 | FGFR3, SHOX
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| FGFR3 is a target of the homeobox transcription factor SHOX in limb development.
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| Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G.
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| Hum Mol Genet 20(8):1524-35. Epub 2011 Jan 27.
2011
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| 3 | SHOX, SOX5, SOX6, SOX9
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| SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
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| Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE.
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| Hum Mol Genet 20(8):1547-59. Epub 2011 Jan 24.
2011
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| 4 | SHOX
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| Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.
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| Durand C, Roeth R, Dweep H, Vlatkovic I, Decker E, Schneider KU, Rappold G.
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| PLoS One 6(3):e18115.
2011
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| 5 | DCS, SHOX, SHSIX
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| Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
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| Benito-Sanz S, Barroso E, Heine-Suńer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.
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| J Clin Endocrinol Metab 96(2):E404-12. Epub 2010 Dec 8.
2011
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| 6 | SHOX, SHOX2
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| Functional redundancy between human SHOX and mouse Shox2 genes in the regulation of sinoatrial node formation and pacemaking function.
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| Liu H, Chen CH, Espinoza-Lewis RA, Jiao Z, Sheu I, Hu X, Lin M, Zhang Y, Chen Y.
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| J Biol Chem 286(19):17029-38. Epub 2011 Mar 28.
2011
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| 7 | DCS, SHOX
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| Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
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| Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.
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| Eur J Hum Genet 19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.
2011
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| 8 | KS, SHOX, TS, XXX, XYY
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| Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
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| Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sřrensen K, Jřrgensen N, Rajpert-De Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A.
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| Am J Med Genet A 152A(5):1206-12.PMID: 20425825 2010
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| 9 | DCS, DELXPF, SHOX
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| Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks.
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| Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.
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| Am J Med Genet A 152A(9):2230-5.PMID: 20683993 2010
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| 10 | DCS, SHOX
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| Enhancer elements upstream of the SHOX gene are active in the developing limb.
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| Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G.
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| Eur J Hum Genet 18(5):527-32. Epub 2009 Dec 9.PMID: 19997128 2010
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| 11 | MRKH, SHOX
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| SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
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| Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L, Larizza L, Miozzo M.
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| Genet Med 12(10):634-40.
2010
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| 12 | SHOX
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| Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.
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| Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R.
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| Am J Med Genet A 149A(7):1407-1414. [Epub ahead of print]
2009
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| 13 | DUPXP, SHOX
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| A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences.
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| Roos L, Brřndum Nielsen K, Tümer Z.
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| Am J Med Genet A 149A(12):2900-1. No abstract available.
2009
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| 14 | SHOX, DCS
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| Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Lri-Weill dyschondrosteosis.
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| Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T.
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| J Hum Genet 53(5):454-9. Epub 2008 Mar 6. 2008
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| 15 | DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
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| Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.
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| Am J Med Genet A 143(2):135-41. 2007
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| 16 | DCS, SHOX
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| Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
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| Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G.
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| Hum Mol Genet 16(2):210-22. Epub 2007 Jan 2. 2007
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| 17 | LMD, LWD, SHOX, SHSIX, TS
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| Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
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| Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B.
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| J Med Genet 44(5):306-13. Epub 2006 Dec 20. 2007
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| 18 | SHOX, DCS, SHSIX
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| Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
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| Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L.
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| J Hum Genet 52(1):21-7. Epub 2006 Nov 8. 2007
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| 19 | MMDL, SHOX
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| Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).
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| Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.
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| Am J Med Genet A 143(9):933-8. 2007
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| 20 | DUPXQ28, SHOX, SOX3
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| Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
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| Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.
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| Am J Med Genet A 143(23):2785-95. 2007
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| 21 | NPPB, SHOX
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| BNP is a transcriptional target of the short stature homeobox gene SHOX.
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| Marchini A, Hcker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G.
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| Hum Mol Genet 16(24):3081-7. Epub 2007 Sep 19. 2007
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| 22 | DCS, SHOX
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| SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
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| Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.
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| Clin Endocrinol (Oxf) 66(1):130-5.
2007
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| 23 | SHSIX, SHOX
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| High incidence of SHOX anomalies in individuals with short stature.
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| Huber C, Rosilio M, Munnich A, Cormier-Daire V; French SHOX GeNeSIS Module.
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| J Med Genet 43(9):735-9. Epub 2006 Apr 5. 2006
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| 24 | SHOX, TS, LWD, LMD
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| The pseudoautosomal regions, SHOX and disease.
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| Blaschke RJ, Rappold G.
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| Curr Opin Genet Dev 16(3):233-9. Epub 2006 May 2. 2006
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| 25 | SHOX
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| Characterization of SHOX deletions in Leri-Weill Dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
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| Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE.
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| Am J Hum Genet 79(2):409-14; author reply 414. No abstract available. 2006
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| 26 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 27 | SHOX, DCS, MMDL
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| Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
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| Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
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| Am J Med Genet A 137(1):72-6. Review. 2005
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| 28 | SHOX
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| Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.
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| Schneider KU, Sabherwal N, Jantz K, Roth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G.
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| Am J Hum Genet 77(1):89-96. Epub 2005 Jun 1. 2005
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| 29 | SHOX, DCS, GCX, MMDL
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| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
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| Benito-Sanz S, Thomas NS, Huber C, Del Blanco DG, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.
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| Am J Hum Genet 77(4):533-44. Epub 2005 Aug 15. 2005
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| 30 | DCS,SHOX,TS
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| The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
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| Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR.
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| J Pediatr 147(4):499-507. 2005
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| 31 | SHOX
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| Expression of SHOX in human fetal and childhood growth plate.
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| Munns CJ, Haase HR, Crowther LM, Hayes MT, Blaschke R, Rappold G, Glass IA, Batch JA.
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| J Clin Endocrinol Metab 89(8):4130-5. 2004
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| 32 | SHOX
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| The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes.
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| Marchini A, Marttila T, Winter A, Caldeira S, Malanchi I, Blaschke RJ, Hacker B, Rao E, Karperien M, Wit JM, Richter W, Tommasino M, Rappold GA.
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| J Biol Chem 279(35):37103-14. Epub 2004 May 15. 2004
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| 33 | SHOX, DCS
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| SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
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| Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Hausler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB.
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| J Clin Endocrinol Metab 89(9):4403-8. 2004
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| 34 | GCX, SHOX
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| Familial growth and skeletal features associated with SHOX haploinsufficiency.
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| Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA, Hyland VJ, Batch JA.
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| J Pediatr Endocrinol Metab 16(7):987-96. 2003
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| 35 | SHOX, TS, DCS
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| Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.
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| Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA.
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| J Biol Chem 278(48):47820-6. Epub 2003 Sep 5. 2003
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| 36 | MMDL, SHOX
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| Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
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| Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.
|
| Am J Med Genet 110(2):153-7. 2002
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| 37 | DCS, SHOX
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| Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.
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| Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, Vickers D, Rao E, Rappold GA, Batch JA, Hyland VJ, Glass IA.
|
| J Med Genet 39(10):758-63. No abstract available. 2002
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| 38 | SHOX
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| The human SHOX mutation database.
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| Niesler B, Fischer C, Rappold GA.
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| Hum Mutat 20(5):338-41. 2002
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| 39 | SHOX
|
| Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
|
| Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T.
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| J Clin Endocrinol Metab 87(3):1402-6. 2002
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| 40 | MMDL, SHOX
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| Complete SHOX deficiency causes Langer mesomelic dysplasia.
|
| Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.
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| Am J Med Genet 110(2):158-63. 2002
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| 41 | DCS, GCX, MMDL, SHOX, XXX
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| SHOX haploinsufficiency and overdosage: impact of gonadal function status.
|
| Ogata T, Matsuo N, Nishimura G.
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| J Med Genet 38(1):1-6. 2001
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| 42 | DCS, SHOX
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| SHOX point mutations in dyschondrosteosis.
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| Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, Munnich A, Cormier-Daire V.
|
| J Med Genet 38 : 323-351. 2001
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| 43 | SHOX
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| Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
|
| Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklof O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjold M, Hagenas L, Dumanski JP.
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| Hum Genet 109(5):551-8. 2001
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| 44 | SHOX
|
| The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.
|
| Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA.
|
| Hum Mol Genet 10(26):3083-91. 2001
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| 45 | SHOX
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| Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
|
| Musebeck J, Mohnike K, Beye P, Tonnies H, Neitzel H, Schnabel D, Gruters A, Wieacker PF, Stumm M.
|
| Eur J Pediatr 160(9):561-5. 2001
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| 46 | SHOX, MMDL, TS, DCS
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| Phenotypes Associated with SHOX Deficiency.
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| Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR.
|
| J Clin Endocrinol Metab 86(12):5674-80. 2001
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| 47 | GCX, SHOX, TS, DELXPF
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| Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
|
| Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T.
|
| Hum Genet 106(3):306-10. 2000
|
| 48 | DCS, SHOX
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| Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
|
| Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G.
|
| Clin Genet 57(6):449-53. 2000
|
| 49 | DCS, SHOX
|
| Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
|
| Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L.
|
| Hum Genet 107(2):145-9. 2000
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| 50 | MMDL, SHOX
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| Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
|
| Robertson SP, Shears DJ, Oei P, Winter RM, Scambler PJ, Aftimos S, Savarirayan R.
|
| J Med Genet 37(12):959-64. No abstract available. 2000
|
| 51 | GCX, SHOX, TS
|
| The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
|
| Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA.
|
| Hum Mol Genet 9(5):695-702. 2000
|
| 52 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
|
| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
|
| Am J Med Genet 94(2):163-9. 2000
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| 53 | DCX, SHOX
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| SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
|
| Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A.
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| Acta Paediatr Suppl 88(433):55-9. 1999
|
| 54 | DCS, MMDL, SHOX
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| SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
|
| Belin V, et al.
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| Nat Genet 19 : 67-69. 1998
|
| 55 | SHOX, TS
|
| Growing interest in Turner syndrome.
|
| Zinn AR.
|
| Nat Genet 16 : 3-4. 1997
|
| 56 | SHOX, SHOY, TS
|
| Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
|
| Rao E, et al.
|
| Nat Genet 16 : 54-63. 1997
|
| 57 | GCX, GCY, SHOX
|
| Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.
|
| Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA.
|
| Clin Genet 51(5):346-50. 1997
|
| 58 | SHOX, TS
|
| PHOG, a candidate gene for involvement in the short stature of Turner syndrome.
|
| Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W.
|
| Hum Mol Genet 6(8):1341-7. 1997
|
| 59 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
|
| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
|
| Ballabio A, et al.
|
| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
|