Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy
about
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaConfined placental mosaicismCurrent status of human chromosome 14Mouse homologues of human hereditary disease.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersAt least ten genes define the imprinted Dlk1-Dio3 cluster on mouse chromosome 12qF1Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Maternal uniparental disomy of chromosome 13 in a phenotypically normal childUniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.New aspects of an old theme: the genetic basis of human color vision.Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locusUniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaThe cone dysfunction syndromes.Maternal uniparental disomy 22 has no impact on the phenotype.Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.A somatic origin of homologous Robertsonian translocations and isochromosomes.Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardationPartial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt diseaseDetection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms
P2860
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P2860
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@ast
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@en
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@nl
type
label
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@ast
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@en
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@nl
prefLabel
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@ast
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@en
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@nl
P2093
P2860
P1476
Maternal uniparental isodisomy ...... mal recessive rod monochromacy
@en
P2093
D H Ledbetter
J R Lupski
P2860
P407
P577
1992-04-01T00:00:00Z