(Q24633194)

English

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

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

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Samuel G. Jacobson

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Samuel G Jacobson

8

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author name string

Debra A Thompson

1

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Christina L McHenry

2

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Yun Li

3

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Julia E Richards

4

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Mohammad I Othman

5

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Eberhard Schwinger

6

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Douglas Vollrath

7

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Andreas Gal

9

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publication date

January 2002

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American Journal of Human Genetics

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70

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1

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224-9

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Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

7 April 2017

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

Genomic imprinting, uniparental disomy and foetal growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

27 September 2017

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

30 May 2018

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

30 May 2018

Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

28 November 2018

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

28 November 2018

Uniparental disomies in unselected populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384890

28 November 2018

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Retinal Dystrophy: Primary Defect in Pigment Epithelium Determined with Experimental Rat Chimeras

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective Phagocytosis of Isolated Rod Outer Segments by RCS Rat Retinal Pigment Epithelium in Culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727200

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://api.crossref.org/works/10.1086%2F338455

7 January 2021

based on heuristic

inferred from DOI database lookup

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