| 1 | ARSE, CDPX1
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| X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.
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| Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L.
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| Am J Med Genet A 149A(11):2464-8.PMID: 19839041 2009
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| 2 | CDPX1, ARSE
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| Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
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| Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N.
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| Am J Med Genet A 146A(8):997-1008. 2008
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| 3 | AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
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| Chondrodysplasia punctata: a clinical diagnostic and radiological review.
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| Irving MD, Chitty LS, Mansour S, Hall CM.
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| Clin Dysmorphol 17(4):229-41.
2008
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| 4 | ARSE, CDPX1
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| X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability.
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| Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G.
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| Am J Med Genet 117A(2):164-8. 2003
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| 5 | ARSE, CDPX1
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| Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
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| Daniele A, et al.
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| Am J Hum Genet 62 : 562-572. 1998
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| 6 | ARSE, CDPX1
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| Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
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| Sheffield LJ, et al.
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| J Med Genet 35 : 1004-1008. 1998
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| 7 | ARSE, CDPX1
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| X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
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| Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G.
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| Am J Med Genet 73(2):139-43. 1997
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| 8 | CDPX1
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| High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).
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| Wang I, et al.
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| Genomics 26 : 229-238. 1995
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| 9 | ARSD, ARSE, ARSF, CDPX1
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| A cluster of sulfatase genes on Xp22.3 : mutations in chrondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
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| Franco B, et al.
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| Cell 81 : 15-25. 1995
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| 10 | CDPX1
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| Refinement of the locus for X-linked recessive chondrodysplasia punctata.
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| Muroya K, et al.
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| Hum Genet 95 : 577-580. 1995
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| 11 | CDPX1
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| A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.
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| Klink A, et al.
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| Hum Genet 93 : 463-466. 1994
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| 12 | CDPX1
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| A 45,X male with an X;Y translocation : implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.
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| Weil D, et al.
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| Hum Mol Genet 2 : 1853-1856. 1993
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| 13 | CDPX1
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| Chondrodysplasia punctata : a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.
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| Wulfsberg EA, et al.
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| Am J Med Genet 43 : 823-828. 1992
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| 14 | CDPX1
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| X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.
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| Van Maldergem L, et al.
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| Hum Genet 87 : 661-664. 1991
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| 15 | CDPX1
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| Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
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| Ballabio A, et al.
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| Am J Med Genet 41 : 184-187. 1991
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| 16 | CDPX1, GCX
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| An interstitial deletion in Xp22.3 in a family with-linked recessive chondrodysplasia punctata and short stature.
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| Petit C, et al.
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| Hum Genet 85 : 247-250. 1990
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| 17 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 18 | KAL1, CDPX1
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| Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xq and Yq.
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| Ballabio A, et al.
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| Ann Hum Genet 53 : 9-14. 1989
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| 19 | CDPX1,DELXPM,SSDI,STS
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| X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation : DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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| Ballabio A, et al.
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| Clin Genet 34 : 31-37. 1988
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| 20 | CDPX1
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| Chondrodysplasia punctata with X;Y translocation.
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| Agematsu K, et al.
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| Hum Genet 80 : 105-107. 1988
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| 21 | CDPX1, CD99, STS
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| Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.
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| Curry CJR, et al.
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| N Engl J Med 311 : 1010-1015. 1984
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