Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
about
Paternal age and birth defects: how strong is the association?Genetic considerations in the prenatal diagnosis of overgrowth syndromesIdentification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionMultiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.Parent-of-origin effects in SOX2 anophthalmia syndromeMolecular basis of Sotos syndrome.Chromosomal phenotypes and submicroscopic abnormalitiesA clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.Identification of novel genomic imbalances in Saudi patients with congenital heart disease.Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
P2860
Q22337138-830BF7C1-5EA3-4681-B985-07E7033205C0Q28252301-E5E8C77E-CF9E-40F1-8A10-75CA641F985BQ33938790-96752DC3-C69E-479D-B3D5-EB1CB799EF37Q35448081-2889209F-B179-410A-9137-7AA06221D6C0Q35608003-F3953A5D-2EBA-4732-B361-9D65828FFD29Q35946602-04C7F757-B6BD-42FB-8B03-D4079AD68AB8Q35985485-26AA1DBA-36E7-47CC-86D7-068BD59E6BC5Q37712903-C3D91217-C682-45E6-B797-6E4843245EF6Q47882350-5695EC7F-DA69-47B8-B570-F32EC5EDA72EQ49270535-C57CC110-6D43-4F36-8D5B-20725A06C7BBQ51667561-A3243A66-836D-455B-AE89-B7B8ACCD6799Q51902656-53441865-541E-4C9D-95FE-F305ACE559EB
P2860
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@ast
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@en
type
label
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@ast
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@en
prefLabel
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@ast
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@en
P2093
P2860
P356
P1476
Preferential paternal origin o ...... rrangements in Sotos syndrome.
@en
P2093
Hirobumi Sugawara
Hirofumi Ohashi
Hiroshi Kawame
Junji Nishimoto
Kenji Kurosawa
Ko-ichiro Yoshiura
Masato Tsukahara
Mayumi Touyama
Naohiro Kurotaki
Naoki Harada
P2860
P304
P356
10.1086/375166
P407
P577
2003-04-09T00:00:00Z