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Results: 1 to 20 of 109

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.

Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS.

Ann Clin Lab Sci. 2013 Winter;43(1):70-5.

PMID:
23462608
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Gupta N, Ghosh M, Shukla R, Das GP, Kabra M.

Clin Dysmorphol. 2012 Jul;21(3):113-7. doi: 10.1097/MCD.0b013e32835439cd.

PMID:
22581171
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS.

Fetal Diagn Ther. 2010;28(3):186-90. doi: 10.1159/000297289. Epub 2010 Jun 3.

PMID:
20523025
[PubMed - indexed for MEDLINE]
9.

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G.

Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. Epub 2007 Jun 3.

PMID:
17625999
[PubMed - indexed for MEDLINE]
10.

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).

Horikoshi T, Kikuchi A, Tamaru S, Ono K, Kita M, Takagi K, Miyashita S, Kawame H, Shimokawa O, Harada N.

J Obstet Gynaecol Res. 2010 Jun;36(3):671-5. doi: 10.1111/j.1447-0756.2010.01193.x.

PMID:
20598055
[PubMed - indexed for MEDLINE]
11.

Chondrodysplasia Punctata 1, X-Linked.

Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Apr 22 [updated 2011 Nov 03].

PMID:
20301713
[PubMed]
Books & Documents
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
9863597
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.

Umranikar S, Glanc P, Unger S, Keating S, Fong K, Trevors CD, Myles-Reid D, Chitayat D.

Prenat Diagn. 2006 Dec;26(13):1235-40.

PMID:
17086568
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.

Ferrante P, Messali S, Ballabio A, Meroni G.

Gene. 2004 Jul 21;336(2):155-61.

PMID:
15246527
[PubMed - indexed for MEDLINE]
17.

Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata.

Mundinger GS, Weiss C, Fishman EK.

Pediatr Radiol. 2009 Jun;39(6):625-8. doi: 10.1007/s00247-009-1181-1. Epub 2009 Feb 24.

PMID:
19238369
[PubMed - indexed for MEDLINE]
18.

Brachytelephalangic chondrodysplasia punctata in a female child.

Peter MO, Jeandidier E, Maroteaux P.

J Pediatr Orthop B. 1997 Jan;6(1):24-6.

PMID:
9039663
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
9497243
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Garnier A, Dauger S, Eurin D, Parisi I, Parenti G, Garel C, Delbecque K, Baumann C.

Eur J Pediatr. 2007 Apr;166(4):327-31. Epub 2006 Aug 26.

PMID:
16937129
[PubMed - indexed for MEDLINE]

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