点状软骨发育不良与母亲系统性红斑狼疮。 - Suppr

Suppr

超能文献

Chondrodysplasia punctata and maternal systemic lupus erythematosus.

作者信息

Toriello H V

机构信息

Genetics Services, DeVos Children's Hospital, Spectrum Health, Grand Rapids, MI 49503, USA.

出版信息

J Med Genet. 1998 Aug;35(8):698-9. doi: 10.1136/jmg.35.8.698.

DOI:10.1136/jmg.35.8.698

PMID:9719384

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051403/

Abstract

摘要

相似文献

Chondrodysplasia punctata and maternal systemic lupus erythematosus.

J Med Genet. 1998 Aug;35(8):698-9. doi: 10.1136/jmg.35.8.698.

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

J Med Genet. 1998 Aug;35(8):690-4. doi: 10.1136/jmg.35.8.690.

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

J Med Genet. 1998 Aug;35(8):695-7. doi: 10.1136/jmg.35.8.695.

Chondrodysplasia punctata in siblings and maternal lupus erythematosus.

Clin Genet. 2004 Dec;66(6):545-9. doi: 10.1111/j.1399-0004.2004.00364.x.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

Am J Med Genet. 1999 Apr 23;83(5):397-401. doi: 10.1002/(sici)1096-8628(19990423)83:5<397::aid-ajmg11>3.0.co;2-y.

Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.

Am J Med Genet A. 2008 Dec 1;146A(23):3038-53. doi: 10.1002/ajmg.a.32554.

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies.

Am J Med Genet A. 2011 Jun;155A(6):1487-91. doi: 10.1002/ajmg.a.33995. Epub 2011 May 12.

Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy.

Prenat Diagn. 2002 Aug;22(8):663-8. doi: 10.1002/pd.352.

[Chondrodysplasia punctata and maternal alcohol intoxication. Apropos of 7 cases].

Arch Fr Pediatr. 1984 Oct;41(8):547-50.

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.

Am J Med Genet A. 2003 Jul 1;120A(1):97-104. doi: 10.1002/ajmg.a.20202.

引用本文的文献

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Appl Clin Genet. 2018 Apr 20;11:31-44. doi: 10.2147/TACG.S150982. eCollection 2018.

Lethal epiphyseal stippling in the foetus and neonate; pathological implications.

Virchows Arch. 2010 Mar;456(3):301-8. doi: 10.1007/s00428-009-0877-9.

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

Semin Arthritis Rheum. 2010 Apr;39(5):410-6. doi: 10.1016/j.semarthrit.2008.10.003. Epub 2008 Dec 24.

本文引用的文献

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

J Med Genet. 1998 Aug;35(8):695-7. doi: 10.1136/jmg.35.8.695.

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

J Med Genet. 1998 Aug;35(8):690-4. doi: 10.1136/jmg.35.8.690.

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):271-81. doi: 10.1002/(SICI)1096-9926(199710)56:4<271::AID-TERA6>3.0.CO;2-1.

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):129-34.

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):1710-5.

Lupus anticoagulants: strong association with the major histocompatibility complex class II and platelet antibodies.

Br J Haematol. 1997 Aug;98(2):342-5. doi: 10.1046/j.1365-2141.1997.2103027.x.

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

Nat Genet. 1997 Apr;15(4):385-8. doi: 10.1038/ng0497-385.

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.

PEX genes on the rise.

Nat Genet. 1997 Apr;15(4):331-3. doi: 10.1038/ng0497-331.

Acquired hypoprothrombinemia: effects of danazol treatment.

Am J Hematol. 1996 Dec;53(4):272-6. doi: 10.1002/(SICI)1096-8652(199612)53:4<272::AID-AJH14>3.0.CO;2-E.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验