Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.
about
Chromosome imbalances associated with epilepsyDisease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.Monosomy 1p36.Perfect endings: a review of subtelomeric probes and their use in clinical diagnosisChromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Telomeres: a diagnosis at the end of the chromosomesClinical studies on submicroscopic subtelomeric rearrangements: a checklist.Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9.Molecular cytogenetic analysis of telomere rearrangements.1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1.Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
P2860
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P2860
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@en
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@nl
type
label
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@en
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@nl
prefLabel
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@en
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@nl
P2093
P2860
P1476
Terminal deletion, del(1)(p36. ...... sified malformation syndromes.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8
P577
1999-01-01T00:00:00Z