Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
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Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomyA fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesWhole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments.Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan
P2860
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P2860
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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name
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@en
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@nl
type
label
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@en
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@nl
prefLabel
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@en
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
@nl
P2093
P2860
P356
P1476
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
@en
P2093
Alain Lachaux
Azzedine Aboura
Frédéric Parisot
Gérard Tachdjian
Liliane Capel
Philippe Labrune
Vincent Gajdos
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201342
P577
2005-03-01T00:00:00Z