Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy - Wikidata - awgldk - TriplyDB

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

http://www.wikidata.org/entity/Q24629748

about

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis Apolipoprotein E receptors in the nervous system Genetic aspects of human congenital diaphragmatic hernia.Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.A forward genetic screen in mice identifies mutants with abnormal cortical patterning.Genome-wide significance testing of variation from single case exomes.Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes Whole 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.Cochlear implantation in Donnai-Barrow syndrome.From karyotyping to array-CGH in prenatal diagnosis.LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease.Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice.Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.Proximal Tubular Expression Patterns of Megalin and Cubilin in Proteinuric Nephropathies.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblings

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P2860

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

http://www.wikidata.org/entity/Q24629748

description

2008 nî lūn-bûn

@nan

2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հուլիսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

@zh-hk

2008年論文

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2008年論文

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2008年论文

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name

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@ast

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@en

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@nl

type

label

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@ast

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@en

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@nl

prefLabel

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@ast

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@en

Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

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American Journal of Medical Genetics Part A

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Donnai-Barrow syndrome (DBS/FO ...... hromosome 2 paternal isodisomy

@en

P2093

Barbara R Pober

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Christopher A Walsh

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David O Robinson

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

Dian Donnai

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

F Lucy Raymond

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Kristin M Noonan

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Meaghan K Russell

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N Simon Thomas

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Nicola K Ragge

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Patricia K Donahoe

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P2860

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

Uniparental disomy in steroid 5alpha-reductase 2 deficiency

Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

The role of megalin (LRP-2/Gp330) during development.

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.

Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

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1842-7

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scholarly article

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10.1002/AJMG.A.32381

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14

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146A

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2008-07-15T00:00:00Z

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5302404

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18553518

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2891749

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