Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders (Q57779098)

1

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Pengyuan Liu

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James L. Weber

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Christopher J. Papasian

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Robert R. Recker

Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1

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publication date

February 2006

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published in

Human Mutation

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volume

27

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issue

2

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page(s)

133-137

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cites work

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Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy

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Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

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No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome

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A new genetic concept: uniparental disomy and its potential effect, isodisomy

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Uniparental disomies in unselected populations

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Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

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Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

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CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

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Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

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Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

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