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Items: 1 to 20 of 96

1.
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.

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
4.

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.

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.

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
7.
8.

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
9.

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
10.

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
11.

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L.

Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039.

PMID:
19839041
12.

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.

13.

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA.

Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23.

PMID:
24458983
14.

Molecular cloning of chicken Cecr2 and its expression during chicken embryo development.

Chen J, Morosan-Puopolo G, Dai F, Wang J, Brand-Saberi B.

Int J Dev Biol. 2010;54(5):925-9. doi: 10.1387/ijdb.092933jc.

15.

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
16.

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology].

Malou E, Gekas J, Troucelier-Lucas V, Mornet E, Razafimanantsoa L, Cuvelier B, Mathieu M, Thépot F.

Arch Pediatr. 2001 Feb;8(2):176-80. French.

PMID:
11232459
17.

Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.

Meyer S, Löffler G, Gencik M, Fries P, Papanagiotou P, Oehl-Jaschkowitz B, Gortner L.

Am J Med Genet A. 2013 Mar;161A(3):626-9. doi: 10.1002/ajmg.a.35758. Epub 2013 Feb 7. No abstract available.

PMID:
23401300
18.
19.

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
20.

5-Methylcytosine DNA glycosylase activity is also present in the human MBD4 (G/T mismatch glycosylase) and in a related avian sequence.

Zhu B, Zheng Y, Angliker H, Schwarz S, Thiry S, Siegmann M, Jost JP.

Nucleic Acids Res. 2000 Nov 1;28(21):4157-65.

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