Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.
about
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Isoform-specific imprinting of the human PEG1/MEST geneAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genomeMicrodeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum.Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Primary ciliary dyskinesia (PCD).Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Imprinting disorders: non-Mendelian mechanisms affecting growth.Genome-wide methylation analysis in Silver-Russell syndrome patientsA fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.New developments in Silver-Russell syndrome and implications for clinical practiceThe consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.Reply to niermeijer.Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
P2860
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P2860
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.
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
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@en
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@nl
type
label
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@en
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@nl
prefLabel
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@en
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@nl
P2093
P356
P1476
Paternal isodisomy of chromoso ...... s inversus and immotile cilia.
@en
P2093
C D McCaskill
K H Thompson
L G Shaffer
W J Craigen
P304
P356
10.1086/301857
P407
P577
1998-06-01T00:00:00Z