Conference report: International Workshop on the fragile X and X-linked mental retardation.

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作者信息

Opitz J M, Sutherland G R

出版信息

Am J Med Genet. 1984 Jan;17(1):5-94. doi: 10.1002/ajmg.1320170103.

DOI:10.1002/ajmg.1320170103

PMID:6369987

Abstract

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相似文献

Conference report: International Workshop on the fragile X and X-linked mental retardation.

Am J Med Genet. 1984 Jan;17(1):5-94. doi: 10.1002/ajmg.1320170103.

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引用本文的文献

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.脆性X智力低下1基因（FMR1）：历史回顾、表型、机制、病理学及流行病学

Clin Neuropsychol. 2016 Aug;30(6):815-33. doi: 10.1080/13854046.2016.1184652. Epub 2016 Jun 29.

Fragile X and X-linked intellectual disability: four decades of discovery.脆性 X 综合征与 X 连锁智力障碍：四十年的探索历程。

Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018.

Limbic epileptogenesis in a mouse model of fragile X syndrome.脆性X综合征小鼠模型中的边缘叶癫痫发生

Cereb Cortex. 2009 Jul;19(7):1504-14. doi: 10.1093/cercor/bhn163. Epub 2008 Oct 1.

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.一个患有智力障碍、可变型巨头畸形和巨睾症且与Xq12-q21连锁的家族。

J Med Genet. 1998 Dec;35(12):1026-30. doi: 10.1136/jmg.35.12.1026.

X-linked mental retardation: in pursuit of a gene map.X连锁智力迟钝：追寻基因图谱。

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Adult fragile X syndrome. Clinico-neuropathologic findings.

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Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.马丁-贝尔综合征的智力损害可能由多个基因的相互作用决定：对具有相同X染色体的未受影响男性和受影响男性之间表型差异的简单解释。

Hum Genet. 1986 Mar;72(3):248-52. doi: 10.1007/BF00291888.

The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.血友病A和血友病B的人类基因位于X染色体Xq27.3处的脆性位点两侧。

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Am J Hum Genet. 1985 May;37(3):543-52.

Unaffected carrier males in families with fragile X syndrome.患有脆性X综合征的家族中未受影响的男性携带者

Am J Hum Genet. 1985 Sep;37(5):956-64.

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