| 1 | DCS, SHOX, SHSIX
|
| Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
|
| Benito-Sanz S, Barroso E, Heine-Suñer 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.
|
| J Clin Endocrinol Metab 96(2):E404-12. Epub 2010 Dec 8.
2011
|
| 2 | DCS, SHOX
|
| Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
|
| 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.
|
| Eur J Hum Genet 19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.
2011
|
| 3 | DCS, DELXPF, SHOX
|
| Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks.
|
| Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.
|
| Am J Med Genet A 152A(9):2230-5.PMID: 20683993 2010
|
| 4 | DCS, SHOX
|
| Enhancer elements upstream of the SHOX gene are active in the developing limb.
|
| Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G.
|
| Eur J Hum Genet 18(5):527-32. Epub 2009 Dec 9.PMID: 19997128 2010
|
| 5 | SHOX, DCS
|
| Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with LŽri-Weill dyschondrosteosis.
|
| Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T.
|
| J Hum Genet 53(5):454-9. Epub 2008 Mar 6. 2008
|
| 6 | DCS, SHOX
|
| Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
|
| 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.
|
| Hum Mol Genet 16(2):210-22. Epub 2007 Jan 2. 2007
|
| 7 | SHOX, DCS, SHSIX
|
| Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
|
| Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L.
|
| J Hum Genet 52(1):21-7. Epub 2006 Nov 8. 2007
|
| 8 | DCS, SHOX
|
| SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
|
| Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.
|
| Clin Endocrinol (Oxf) 66(1):130-5.
2007
|
| 9 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
|
| Homeodomain revisited: a lesson from disease-causing mutations.
|
| Chi YI.
|
| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
|
| 10 | SHOX, DCS, MMDL
|
| 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.
|
| Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
|
| Am J Med Genet A 137(1):72-6. Review. 2005
|
| 11 | SHOX, DCS, GCX, MMDL
|
| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
|
| 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.
|
| Am J Hum Genet 77(4):533-44. Epub 2005 Aug 15. 2005
|
| 12 | DCS,SHOX,TS
|
| The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
|
| Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR.
|
| J Pediatr 147(4):499-507. 2005
|
| 13 | SHOX, DCS
|
| SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
|
| Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Hausler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB.
|
| J Clin Endocrinol Metab 89(9):4403-8. 2004
|
| 14 | SHOX, TS, DCS
|
| Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.
|
| Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA.
|
| J Biol Chem 278(48):47820-6. Epub 2003 Sep 5. 2003
|
| 15 | DCS, SHOX
|
| Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.
|
| 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
|
| 16 | DCS, GCX, MMDL, SHOX, XXX
|
| SHOX haploinsufficiency and overdosage: impact of gonadal function status.
|
| Ogata T, Matsuo N, Nishimura G.
|
| J Med Genet 38(1):1-6. 2001
|
| 17 | DCS, NELFA, WHS, WHSCR
|
| First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
|
| Rauch A, Schellmoser S, Kraus C, Dorr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A.
|
| Am J Med Genet 99(4):338-42. 2001
|
| 18 | DCS, SHOX
|
| SHOX point mutations in dyschondrosteosis.
|
| 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
|
| 19 | SHOX, MMDL, TS, DCS
|
| Phenotypes Associated with SHOX Deficiency.
|
| 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
|
| 20 | DCS
|
| Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome.
|
| Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, LS Drop S, Troger J, Knoblauch H, Kunze J, Seidel J, Rappold GA.
|
| Eur J Hum Genet 8(1):54-62. 2000
|
| 21 | DCS, SHOX
|
| 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
|
| 22 | 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
|
| 23 | DCS
|
| Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
|
| Spranger S, et al.
|
| Am J Med Genet 83(5):367-71. 1999
|
| 24 | DCS
|
| X/Y translocation in a family with Leri-Weill dyschondrosteosis.
|
| Calabrese G, et al.
|
| Hum Genet 105(4):367-8 1999
|
| 25 | DCS, DXYS6814
|
| Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
|
| Shears DJ, et al.
|
| Nat Genet 19 : 70-73. 1998
|
| 26 | DCS, MMDL, SHOX
|
| SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
|
| Belin V, et al.
|
| Nat Genet 19 : 67-69. 1998
|