Uniparental disomy as a mechanism for human genetic disease - Wikidata - thesis-toulmin - TriplyDB

Uniparental disomy as a mechanism for human genetic disease

Uniparental disomy as a mechanism for human genetic disease

http://www.wikidata.org/entity/Q24679370

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Confined placental mosaicism Isoform-specific imprinting of the human PEG1/MEST gene Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.Genomic imprinting: review and relevance to human diseases.A microhomology-mediated break-induced replication model for the origin of human copy number variation.Unilateral disomy as a possible explanation for Russell-Silver syndrome.Maternal uniparental disomy for chromosome 14 Maternal uniparental disomy 7 in Silver-Russell syndrome.No evidence for uniparental disomy as a common cause of Sotos syndrome.Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea.Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7 Cytogenetic contribution to uniparental disomy (UPD).Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.Review and hypotheses: somatic mosaicism: observations related to clinical genetics.Genomic imprinting Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.Neurogenetics: advancing the "next-generation" of brain research.Long-range organization of tandem arrays of alpha satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability.Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES.Advances in genetics American College of Medical Genetics statement of diagnostic testing for uniparental disomy Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency Uniparental disomy for chromosome 16 in humans.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.Molecular genetic study of human arginase deficiency Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

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P2860

Uniparental disomy as a mechanism for human genetic disease

http://www.wikidata.org/entity/Q24679370

description

1988 nî lūn-bûn

@nan

1988 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

1988 թվականի փետրվարին հրատարակված գիտական հոդված

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1988年の論文

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1988年論文

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1988年論文

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1988年論文

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1988年論文

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1988年論文

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1988年论文

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name

Uniparental disomy as a mechanism for human genetic disease

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Uniparental disomy as a mechanism for human genetic disease

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Uniparental disomy as a mechanism for human genetic disease

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type

label

Uniparental disomy as a mechanism for human genetic disease

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Uniparental disomy as a mechanism for human genetic disease

@en

Uniparental disomy as a mechanism for human genetic disease

@nl

prefLabel

Uniparental disomy as a mechanism for human genetic disease

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Uniparental disomy as a mechanism for human genetic disease

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Uniparental disomy as a mechanism for human genetic disease

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American Journal of Human Genetics

P1476

Uniparental disomy as a mechanism for human genetic disease

@en

P2093

A L Beaudet

http://www.w3.org/2001/XMLSchema#string

D H Ledbetter

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G M Greig

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H F Willard

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J E Spence

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J F Hejtmancik

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M S Pollack

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R G Perciaccante

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W E O'Brien

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P2860

Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

Variable number of tandem repeat (VNTR) markers for human gene mapping.

High resolution of human chromosomes.

Differential activity of maternally and paternally derived chromosome regions in mice.

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.

Genetic analysis of the hypervariable region flanking the human insulin gene.

Linkage of DNA markers to cystic fibrosis in 26 families.

The origin of mosaic Down syndrome: four cases with chromosome markers.

A strategy to reveal high-frequency RFLPs along the human X chromosome

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217-26

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1988-02-01T00:00:00Z

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2893543

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1715272

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