Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.
about
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndromeGenomic imprinting: review and relevance to human diseases.Familial half cryptic translocation t(9;17).Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.Allelic loss of chromosomes 16q and 10q in human prostate cancer.Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.Miller-Dieker syndrome with ring chromosome 17ABR, an active BCR-related genep53 mutations have no additional prognostic value over stage in bladder cancer.Angelman's syndrome, abnormality of 15q11-13, and imprinting.Molecular cytogenetics: toward dissection of the contiguous gene syndromes
P2860
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P2860
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.
description
1988 nî lūn-bûn
@nan
1988 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
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1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@ast
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@en
type
label
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@ast
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@en
prefLabel
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@ast
Detection of submicroscopic de ...... th the Miller-Dieker syndrome.
@en
P2093
P2860
P1476
Detection of submicroscopic de ...... ith the Miller-Dieker syndrome
@en
P2093
Holycross B
Johnson JP
Mandeville TM
Schroer RJ
Schwartz CE
P2860
P304
P407
P577
1988-11-01T00:00:00Z