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Literature DB >> 9719384

Chondrodysplasia punctata and maternal systemic lupus erythematosus.

H V Toriello¹.

Abstract

Entities: Disease

Mesh：

Year: 1998 PMID： 9719384 PMCID： PMC1051403 DOI： 10.1136/jmg.35.8.698

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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16 in total

Review 1. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Authors: E A Wulfsberg; J Curtis; C H Jayne
Journal: Am J Med Genet Date: 1992-07-15

2. PEX genes on the rise.

Authors: S Subramani
Journal: Nat Genet Date: 1997-04 Impact factor: 38.330

Review 3. Punctate epiphyses: a radiological sign not a disease.

Authors: A K Poznanski
Journal: Pediatr Radiol Date: 1994

4. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant.

Authors: S Mansour; D Liberman; I Young
Journal: Am J Med Genet Date: 1994-10-15

5. Acquired hypoprothrombinemia: effects of danazol treatment.

Authors: S Williams; C Linardic; O Wilson; P Comp; H R Gralnick
Journal: Am J Hematol Date: 1996-12 Impact factor: 10.047

6. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

Authors: N Elçioglu; C M Hall
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

7. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.

Authors: E Austin-Ward; S Castillo; M Cuchacovich; A Espinoza; J Cofré-Beca; S González; X Solivelles; J Bloomfield
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

8. 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.

Authors: S Emami; K P Hanley; N B Esterly; N Daniallinia; M L Williams
Journal: Arch Dermatol Date: 1994-03

Review 9. Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K.

Authors: A M Howe; A H Lipson; L J Sheffield; E A Haan; J L Halliday; F Jenson; D J David; W S Webster
Journal: Am J Med Genet Date: 1995-09-11

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

Authors: B Franco; G Meroni; G Parenti; J Levilliers; L Bernard; M Gebbia; L Cox; P Maroteaux; L Sheffield; G A Rappold; G Andria; C Petit; A Ballabio
Journal: Cell Date: 1995-04-07 Impact factor: 41.582

3 in total