X连锁导水管狭窄：两个家族的临床和神经病理学发现 - Suppr

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X-linked aqueductal stenosis: clinical and neuropathological findings in two families.

作者信息

Holmes L B, Nash A, ZuRhein G M, Levin M, Opitz J M

出版信息

Pediatrics. 1973 Apr;51(4):697-704.

PMID:4121400

Abstract

摘要

相似文献

X-linked aqueductal stenosis: clinical and neuropathological findings in two families.X连锁导水管狭窄：两个家族的临床和神经病理学发现

Pediatrics. 1973 Apr;51(4):697-704.

[X chromosome recessively transmitted hydrocephalus with congenital aqueduct stenosis].[X染色体隐性遗传型脑积水伴先天性导水管狭窄]

Z Geburtshilfe Perinatol. 1985 Sep-Oct;189(5):244-6.

X-linked aqueductal stenosis.X连锁性导水管狭窄

Clin Genet. 1977 Jun;11(6):416-20.

[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature].[X染色体隐性先天性脑积水：一种独立的疾病表现？另外2例病例报告及文献综述]

Klin Padiatr. 1996 May-Jun;208(3):93-6. doi: 10.1055/s-2008-1044002.

[X-linked hydrocephalus. Prenatal diagnosis].[X连锁脑积水。产前诊断]

Pathologica. 1983 Jan-Feb;75(1035):35-44.

Autosomal recessive congenital stenosis of aqueduct of Sylvius.常染色体隐性遗传性中脑导水管先天性狭窄

Genet Couns. 1993;4(1):19-23.

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.“复杂型痉挛性截瘫、MASA综合征和X连锁脑积水”的谱系。DNA连锁分析在个别家庭遗传咨询中的作用。

Genet Couns. 1994;5(1):1-10.

[Central von Recklinghausen disease: report of a clinical case with multifocal symptoms and hydrocephalus due to stenosis of the aqueduct (author's transl)].

Riv Patol Nerv Ment. 1979 Jun;99(5):308-16.

[Bickers and Adams syndrome or hereditary hydrocephalus from stenosis of the aqueduct of Sylvius. A report on two familial cases (author's transl)].[比克斯和亚当斯综合征或导水管狭窄所致遗传性脑积水。两例家族性病例报告（作者译）]

Ann Pediatr (Paris). 1979 May;26(5):327-9.

X-linked recessive aqueductal stenosis without macrocephaly.

Clin Genet. 1988 May;33(5):390-4. doi: 10.1111/j.1399-0004.1988.tb03467.x.

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Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.使用下一代测序技术对与脑积水相关的L1CAM基因错义突变进行产前鉴定。

Cureus. 2024 Feb 28;16(2):e55142. doi: 10.7759/cureus.55142. eCollection 2024 Feb.

[Acute behaviour disorder in a patient with X-linked hydrocephalus with normal pressure].[一名患有正常压力性X连锁脑积水患者的急性行为障碍]

Wien Med Wochenschr. 2009;159(1-2):62-4. doi: 10.1007/s10354-008-0584-1.

X linked hydrocephalus and MASA syndrome.X连锁脑积水与MASA综合征。

J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59.

Autosomal recessive hydrocephalus with aqueductal stenosis.伴有导水管狭窄的常染色体隐性脑积水。

Childs Nerv Syst. 1996 Apr;12(4):188-91. doi: 10.1007/BF00301249.

Consensus: nosographic identification.共识：疾病分类识别。

Childs Nerv Syst. 1994 Apr;10(3):167-71. doi: 10.1007/BF00301084.

Mesencephalic and third ventricle cysts: diagnosis and management in four cases.中脑和第三脑室囊肿：4例诊断与处理

J Neurol Neurosurg Psychiatry. 1994 Oct;57(10):1216-20. doi: 10.1136/jnnp.57.10.1216.

Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management.神经管缺陷患儿出生后两次妊娠中的先天性脑积水：病因及处理

J Med Genet. 1981 Apr;18(2):105-7. doi: 10.1136/jmg.18.2.105.

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.X连锁脑积水：澳大利亚维多利亚州20年期间的一项调查。

J Med Genet. 1986 Feb;23(1):23-31. doi: 10.1136/jmg.23.1.23.

Prenatal aqueductal stenosis as a cause of congenital hydrocephalus in the inbred rat LEW/Jms.产前导水管狭窄作为近交系大鼠LEW/Jms先天性脑积水的一个病因

Childs Nerv Syst. 1991 Aug;7(4):218-22. doi: 10.1007/BF00249399.

Histological changes in the midbrain around the aqueduct in congenital hydrocephalic rat LEW/Jms.

Childs Nerv Syst. 1992 Oct;8(7):394-8. doi: 10.1007/BF00304787.

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