about
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeThe phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregationDissection of complex molecular interactions of neurofascin with axonin-1, F11, and tenascin-R, which promote attachment and neurite formation of tectal cellsRanBPM is an L1-interacting protein that regulates L1-mediated mitogen-activated protein kinase activationCongenital hydrocephalus: nosology and guidelines for clinical approach and genetic counsellingFried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28L1-mediated branching is regulated by two ezrin-radixin-moesin (ERM)-binding sites, the RSLE region and a novel juxtamembrane ERM-binding region.Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Soluble L1CAM promotes breast cancer cell adhesion and migration in vitro, but not invasion.Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disordersHydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactionsOrganization of the neurofascin gene and analysis of developmentally regulated alternative splicing.Pathological approach to the diagnosis of hydrocephalus.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.What does the developing brain tell us about neural diseases?Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.The Arg-Gly-Asp motif in the cell adhesion molecule L1 promotes neurite outgrowth via interaction with the alphavbeta3 integrin.Neurotractin, a novel neurite outgrowth-promoting Ig-like protein that interacts with CEPU-1 and LAMPThe 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.Genetic disorders among Palestinian Arabs. 2. Hydrocephalus and neural tube defects.MASA syndrome: ultrasonographic evidence in a male fetus.Whole Exome Sequencing: Applications in Prenatal Genetics.Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?Neural cell adhesion molecule L1: relating disease to function.Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
P2860
Q24336051-3D94A879-8203-472C-A4D4-5FD9D6D7A91CQ24657641-5C196A30-9D03-4D76-A7D1-5BCE42709707Q24682843-3A486B7B-A9DF-4D45-B774-FEB1F85B2E0AQ27863892-29D594D7-B845-4ADB-86E5-0E033C3699B0Q28273623-019D5967-2334-40A7-A525-751D760ED598Q33679076-D029A2D7-BE21-48C9-BBA0-681BFCF3DEB8Q33681675-EBB86F41-0583-4C43-9022-29132FDA2207Q33814235-67B2CF9C-59DE-4CC4-ADC2-298DBEC446C4Q34083049-03F10220-50E1-4E20-A178-4B5B5C6BBAA6Q34173332-E12BF194-9F02-439A-9D57-C0428D06EAB2Q34409722-9D65FC56-6165-4757-9879-440F1AC4BF1BQ34742761-DFC66658-0DDD-4E72-9B97-A130B67721C4Q35171646-F9C51CE7-6E72-43A5-8DDC-ECD2F086551FQ35882720-F2020F32-D6E6-4E4B-B21F-83A882354737Q36713472-BD4E0082-ACB1-411C-A22B-CB2C2916DCB2Q36888948-401F390B-69F8-4882-9A6A-DDCB5F4E0475Q37204413-0E5A81FE-8966-4B06-902F-DB7CB2E03C20Q37294982-1A322AF7-D940-48E0-8051-1F920062FC11Q38019563-9B645297-3750-46DC-9EA0-C3CC150DE0EBQ38118887-926E45CE-D500-4AFF-8A6A-F17D0ACE5824Q38610535-9CDC131D-D4F9-45CE-80F7-8962B70FF8FFQ41818301-BD46BA64-1557-4BB5-83A8-F0A4D5A39963Q42056967-5E47CFDD-506A-4A83-BEF1-209E2348DB6EQ42566633-98A5CD6E-8EF6-4187-BFAB-C0ED830D1D54Q48659007-3A4430D9-B270-447D-AB7B-A2AF564B6EEAQ49158379-8519FC49-659E-425C-825E-90136439A2E1Q50083885-60CD440C-3CFC-4AF1-A4FC-26D5692C09FCQ51959603-918D198B-41ED-4515-86DE-83908684D580Q52532250-1B5B49DF-A13D-48A8-A6F4-EE7A43369CB2Q52565337-22F23F35-64A7-40DE-88A6-862ED3026D65Q55067969-589C2312-15E1-4CE8-A671-BDB5551A24BB
P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
X linked hydrocephalus and MASA syndrome.
@ast
X linked hydrocephalus and MASA syndrome.
@en
type
label
X linked hydrocephalus and MASA syndrome.
@ast
X linked hydrocephalus and MASA syndrome.
@en
prefLabel
X linked hydrocephalus and MASA syndrome.
@ast
X linked hydrocephalus and MASA syndrome.
@en
P2093
P2860
P356
P1476
X linked hydrocephalus and MASA syndrome.
@en
P2093
P2860
P356
10.1136/JMG.33.1.59
P407
P577
1996-01-01T00:00:00Z