Identification of cryptic rearrangements in patients with 18q- deletion syndrome.

Identification of cryptic rearrangements in patients with 18q- deletion syndrome.

Item
http://www.wikidata.org/entity/Q43217373
High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeCongenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.Perfect endings: a review of subtelomeric probes and their use in clinical diagnosisCognitive ability predicts degree of genetic abnormality in participants with 18q deletions.Genomic imbalances in mental retardation.Molecular cytogenetic analysis of telomere rearrangements.Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.Terminal 18q deletions are stabilized by neotelomeresNo relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome.
P2860

Identification of cryptic rearrangements in patients with 18q- deletion syndrome.

Item
http://www.wikidata.org/entity/Q43217373
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@en
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@nl
type
label
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@en
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@nl
prefLabel
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@en
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932