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Items: 1 to 20 of 103

1.

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A.

Cell. 1995 Apr 7;81(1):15-25.

2.

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.

Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B.

Genomics. 1997 Jun 1;42(2):192-9.

PMID:
9192838
3.

Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)

Savarirayan R.

Pediatr Radiol. 1999 May;29(5):322. No abstract available.

PMID:
10382206
4.

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G.

Am J Med Genet. 1997 Dec 12;73(2):139-43.

PMID:
9409863
5.

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G.

Am J Hum Genet. 1998 Mar;62(3):562-72.

6.

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G.

Am J Med Genet A. 2003 Mar 1;117A(2):164-8.

PMID:
12567415
7.
8.

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).

Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C.

Genomics. 1995 Mar 20;26(2):229-38.

PMID:
7601447
9.

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.

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P.

Am J Med Genet. 1991 Nov 1;41(2):184-7.

PMID:
1785631
10.
11.

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

Sheffield LJ, Osborn AH, Hutchison WM, Sillence DO, Forrest SM, White SJ, Dahl HH.

J Med Genet. 1998 Dec;35(12):1004-8.

12.

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

Bick DP, Schorderet DF, Price PA, Campbell L, Huff RW, Shapiro LJ, Moore CM.

Prenat Diagn. 1992 Jan;12(1):19-29.

PMID:
1557308
13.

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA.

Clin Genet. 2001 Feb;59(2):115-21.

PMID:
11260213
14.

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N.

Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7.

PMID:
23470839
15.

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

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.

Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159.

PMID:
18348268
17.

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region.

Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A.

Hum Mol Genet. 1996 Apr;5(4):423-31.

PMID:
8845834
18.

Arylsulfatase D gene in Xp22.3 encodes two protein isoforms.

Urbitsch P, Salzer MJ, Hirschmann P, Vogt PH.

DNA Cell Biol. 2000 Dec;19(12):765-73.

PMID:
11177574
19.

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.

Klink A, Schiebel K, Winkelmann M, Rao E, Horsthemke B, L├╝decke HJ, Claussen U, Scherer G, Rappold G.

Hum Mol Genet. 1995 May;4(5):869-78.

PMID:
7633447
20.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

Bick D, Curry CJ, McGill JR, Schorderet DF, Bux RC, Moore CM.

Am J Med Genet. 1989 May;33(1):100-7.

PMID:
2750777

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