about
Possible linkage between Xg and the locus for a gene causing mental retardation with or without hydrocephalusX-linked mental retardation.X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.Non-specific X linked mental retardation.A family study of hydrocephalus resulting from aqueduct stenosisX linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.X linked hydrocephalus and MASA syndrome.A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.Infantile hydrocephalus: a review of epidemiology, classification and causes.Further localization of X-linked hydrocephalus in the chromosomal region Xq28.AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.X-linked mental retardation: in pursuit of a gene map.Malformations among the X-linked intellectual disability syndromes.
P2860
Q33585520-D4A898D7-681C-4CF6-BEAF-11825662CCB5Q33585997-E1AA2EB6-4580-4E75-B6E1-535E67082CBCQ33588425-BB3F22DB-B83E-45DA-A9DA-7E5D7565E8BAQ33593878-562E0666-FE78-4B9F-9918-80621255E3D0Q33597050-BCB47873-FFED-46D4-BDD3-9240D103974BQ33668771-D91AC366-6E33-48C7-8AC3-EFDDC506B01CQ33672323-5AFAB3FA-6FAF-4E25-A4F7-B7D15DF0994CQ33679076-8DD4CD3C-4FE0-4C70-9EB7-229ADC609275Q33683093-39A7E831-E0DA-4F18-B7B6-34A86C43BCA6Q33824335-CF0FB93F-4E90-4787-B1FD-A98CD56BFDB9Q34246089-3EE753AA-F6D2-47F0-8716-8BB49690AB3FQ35101052-A228989B-139F-4B13-9C99-8FFB8258B928Q35195648-E9FEEA8D-BE50-4FEB-B09A-E9F6BBC7E628Q37585836-BE42F83A-1102-4F80-B5E4-E1FB4B63723DQ42056967-35D95CE1-70B2-41CC-B068-46DC2DEA73D0Q42566633-56A4D542-2D23-4F6C-8FBC-A6213FC69AA1Q43147044-4DDBF1E0-90AF-4369-9E11-C9BAD36C4B6BQ54684565-20ECFED3-1B4A-41C0-9B9F-C76E7068B80E
P2860
description
1972 nî lūn-bûn
@nan
1972年の論文
@ja
1972年学术文章
@wuu
1972年学术文章
@zh
1972年学术文章
@zh-cn
1972年学术文章
@zh-hans
1972年学术文章
@zh-my
1972年学术文章
@zh-sg
1972年學術文章
@yue
1972年學術文章
@zh-hant
name
X-linked mental retardation and-or hydrocephalus.
@en
X-linked mental retardation and-or hydrocephalus.
@nl
type
label
X-linked mental retardation and-or hydrocephalus.
@en
X-linked mental retardation and-or hydrocephalus.
@nl
prefLabel
X-linked mental retardation and-or hydrocephalus.
@en
X-linked mental retardation and-or hydrocephalus.
@nl
P1433
P1476
X-linked mental retardation and-or hydrocephalus.
@en
P2093
P304
P577
1972-01-01T00:00:00Z