Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.
about
Human monoamine oxidase A gene determines levels of enzyme activityMolecular and clinical studies of X-linked deafness among Pakistani families.Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseStructure of the human gene for monoamine oxidase type A.Norrie disease resulting from a gene deletion: clinical features and DNA studies.Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease)Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsNorrie disease gene is distinct from the monoamine oxidase genes.Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosaMolecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal XqDetection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.Molecular genetic approaches to the analysis of human ophthalmic disease.Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.
P2860
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P2860
Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年学术文章
@wuu
1986年学术文章
@zh
1986年学术文章
@zh-cn
1986年学术文章
@zh-hans
1986年学术文章
@zh-my
1986年学术文章
@zh-sg
1986年學術文章
@yue
1986年學術文章
@zh-hant
name
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@en
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@nl
type
label
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@en
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@nl
prefLabel
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@en
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@nl
P2093
P356
P1476
Submicroscopic interstitial de ...... e dominated by Norrie disease.
@en
P2093
Bleeker-Wagemakers L
Wieringa B
P304
P356
10.1159/000132282
P577
1986-01-01T00:00:00Z