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Molecular nosology of heritable disorders of connective tissue.

作者信息

Beighton P, De Paepe A, Hall J G, Hollister D W, Pope F M, Pyeritz R E, Steinmann B, Tsipouras P

机构信息

Department of Human Genetics, Medical School, University of Cape Town, South Africa.

出版信息

Am J Med Genet. 1992 Feb 15;42(4):431-48. doi: 10.1002/ajmg.1320420406.

DOI:10.1002/ajmg.1320420406

PMID:1609825

Abstract

摘要

相似文献

Molecular nosology of heritable disorders of connective tissue.

Am J Med Genet. 1992 Feb 15;42(4):431-48. doi: 10.1002/ajmg.1320420406.

International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

Am J Med Genet. 1988 Mar;29(3):581-94. doi: 10.1002/ajmg.1320290316.

Heritable disorders of connective tissue. Committee on nomenclature: report of the Genetic Register Subcommittee, Berlin, September, 1986.

Am J Med Genet. 1988 Mar;29(3):595. doi: 10.1002/ajmg.1320290317.

[Achievements of biochemical genetics in studying hereditary pathology of the connective tissue].

Vestn Akad Med Nauk SSSR. 1982(6):70-6.

Skin is a window on heritable disorders of connective tissue.

Am J Med Genet. 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118.

Connective tissue diseases: mutations of collagen genes.

Ann Clin Res. 1986;18(5-6):234-41.

[Cell and disease. VIII. Pathology of the extracellular matrix].

Ned Tijdschr Geneeskd. 1993 Oct 23;137(43):2184-8.

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.

N Engl J Med. 1992 Feb 20;326(8):540-6. doi: 10.1056/NEJM199202203260807.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

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Molecular nosology of heritable disorders of connective tissue.

作者信息

Beighton P, De Paepe A, Hall J G, Hollister D W, Pope F M, Pyeritz R E, Steinmann B, Tsipouras P

机构信息

Department of Human Genetics, Medical School, University of Cape Town, South Africa.

出版信息

Am J Med Genet. 1992 Feb 15;42(4):431-48. doi: 10.1002/ajmg.1320420406.

DOI:10.1002/ajmg.1320420406

PMID:1609825

Abstract

摘要

相似文献

Molecular nosology of heritable disorders of connective tissue.

Am J Med Genet. 1992 Feb 15;42(4):431-48. doi: 10.1002/ajmg.1320420406.

International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

Am J Med Genet. 1988 Mar;29(3):581-94. doi: 10.1002/ajmg.1320290316.

Heritable disorders of connective tissue. Committee on nomenclature: report of the Genetic Register Subcommittee, Berlin, September, 1986.

Am J Med Genet. 1988 Mar;29(3):595. doi: 10.1002/ajmg.1320290317.

[Achievements of biochemical genetics in studying hereditary pathology of the connective tissue].

Vestn Akad Med Nauk SSSR. 1982(6):70-6.

Skin is a window on heritable disorders of connective tissue.

Am J Med Genet. 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118.

Connective tissue diseases: mutations of collagen genes.

Ann Clin Res. 1986;18(5-6):234-41.

[Cell and disease. VIII. Pathology of the extracellular matrix].

Ned Tijdschr Geneeskd. 1993 Oct 23;137(43):2184-8.

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.

N Engl J Med. 1992 Feb 20;326(8):540-6. doi: 10.1056/NEJM199202203260807.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Am J Med Genet. 1998 Nov 2;80(2):121-7.

Fishing for collagen function: About development, regeneration and disease.

Semin Cell Dev Biol. 2019 May;89:100-108. doi: 10.1016/j.semcdb.2018.10.002. Epub 2018 Oct 16.

引用本文的文献

Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome.

J Cardiol Cases. 2010 Nov 12;3(1):e29-e32. doi: 10.1016/j.jccase.2010.09.002. eCollection 2011 Feb.

Intern Emerg Med. 2016 Aug;11(5):703-11. doi: 10.1007/s11739-016-1399-5. Epub 2016 Feb 22.

Proprioceptive sensitivity in Ehlers-Danlos syndrome patients.

Exp Brain Res. 2013 Oct;230(3):311-21. doi: 10.1007/s00221-013-3656-4. Epub 2013 Aug 3.

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.

Stroke Res Treat. 2011 Jan 20;2011:712903. doi: 10.4061/2011/712903.

Ehlers-Danlos syndrome and neurological features: a review.

Childs Nerv Syst. 2011 Mar;27(3):365-71. doi: 10.1007/s00381-010-1256-1. Epub 2010 Aug 10.

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

Clin Rheumatol. 2010 Mar;29(3):289-95. doi: 10.1007/s10067-009-1320-y. Epub 2009 Nov 25.

Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis.

J Child Orthop. 2008 Mar;2(2):113-8. doi: 10.1007/s11832-008-0083-3. Epub 2008 Feb 23.

Scoliotic curve patterns in patients with Marfan syndrome.

J Child Orthop. 2008 Jun;2(3):211-6. doi: 10.1007/s11832-008-0095-z. Epub 2008 Mar 15.

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

J Med Genet. 2006 Mar;43(3):232-7. doi: 10.1136/jmg.2004.029173. Epub 2005 Jul 1.

Ehlers-Danlos syndrome has varied molecular mechanisms.

J Med Genet. 1997 May;34(5):400-10. doi: 10.1136/jmg.34.5.400.