PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1998 August; 35(8): 698–699.
PMCID: PMC1051403

Chondrodysplasia punctata and maternal systemic lupus erythematosus.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (256K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
 

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Elçioglu N, Hall CM. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? J Med Genet. 1998 Aug;35(8):690–694. [PMC free article] [PubMed]
  • Austin-Ward E, Castillo S, Cuchacovich M, Espinoza A, Cofré-Beca J, González S, Solivelles X, Bloomfield J. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. J Med Genet. 1998 Aug;35(8):695–697. [PMC free article] [PubMed]
  • Mansour S, Liberman D, Young I. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. Am J Med Genet. 1994 Oct 15;53(1):81–82. [PubMed]
  • Wulfsberg EA, Curtis J, Jayne CH. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet. 1992 Jul 15;43(5):823–828. [PubMed]
  • Poznanski AK. Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol. 1994;24(6):418–436. [PubMed]
  • Menger H, Lin AE, Toriello HV, Bernert G, Spranger JW. Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. Am J Med Genet. 1997 Oct 17;72(2):129–134. [PubMed]
  • Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DJ, Webster WS. Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K. Am J Med Genet. 1995 Sep 11;58(3):238–244. [PubMed]
  • Danielsson BR, Azarbayjani F, Sköld AC, Webster WS. Initiation of phenytoin teratogenesis: pharmacologically induced embryonic bradycardia and arrhythmia resulting in hypoxia and possible free radical damage at reoxygenation. Teratology. 1997 Oct;56(4):271–281. [PubMed]
  • Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995 Apr 7;81(1):15–25. [PubMed]
  • Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997 Apr;15(4):381–384. [PubMed]
  • Chang CC, Lee WH, Moser H, Valle D, Gould SJ. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet. 1997 Apr;15(4):385–388. [PubMed]
  • Subramani S. PEX genes on the rise. Nat Genet. 1997 Apr;15(4):331–333. [PubMed]
  • Emami S, Hanley KP, Esterly NB, Daniallinia N, Williams ML. X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse. Arch Dermatol. 1994 Mar;130(3):325–336. [PubMed]
  • Williams S, Linardic C, Wilson O, Comp P, Gralnick HR. Acquired hypoprothrombinemia: effects of danazol treatment. Am J Hematol. 1996 Dec;53(4):272–276. [PubMed]
  • Swadzba J, De Clerck LS, Stevens WJ, Bridts CH, van Cotthem KA, Musial J, Jankowski M, Szczeklik A. Anticardiolipin, anti-beta(2)-glycoprotein I, antiprothrombin antibodies, and lupus anticoagulant in patients with systemic lupus erythematosus with a history of thrombosis. J Rheumatol. 1997 Sep;24(9):1710–1715. [PubMed]
  • Panzer S, Pabinger I, Gschwandtner ME, Mayr WR, Hütter D. Lupus anticoagulants: strong association with the major histocompatibility complex class II and platelet antibodies. Br J Haematol. 1997 Aug;98(2):342–345. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group