| 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 | 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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| 5 | ARSA, ARSB, ARSC2, ARSD, ARSE, ARSF, ARSG, ARSH, ARSJ, ARSK, ARSI, SUMF1, GALNS, SULF1, SULF2, SGSH, GNS, IDS
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| Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
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| Sardiello M, Annunziata I, Roma G, Ballabio A.
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| Hum Mol Genet 14(21):3203-17. Epub 2005 Sep 20. 2005
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| 6 | 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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| 7 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
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| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
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| Am J Med Genet 94(2):163-9. 2000
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| 8 | ARSE
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| Arylsulfatase D gene in Xp22.3 encodes two protein isoforms.
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| Urbitsch P, Salzer MJ, Hirschmann P, Vogt PH.
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| DNA Cell Biol 19(12):765-73.
2000
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | ARSD, ARSE, ARSDP, ARSEP
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| Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region.
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| Meroni G, et al.
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| Hum Mol Genet 5 : 423-431. 1996
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| 13 | 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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| 14 | 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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