Genotype-phenotype correlation in X-linked Alport syndrome (Q40404388)

20 September 2017

Genotype-phenotype correlation in X-linked Alport syndrome (English)

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genotype-phenotype correlation

20 September 2017

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X-linked Alport syndrome

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1 reference

Robert William Schrier

7

object named as

Robert W Schrier

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20 September 2017

Mir Reza Bekheirnia

1

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20 September 2017

Berenice Reed

2

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20 September 2017

Martin C Gregory

3

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20 September 2017

Kim McFann

4

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20 September 2017

Alireza Abdollah Shamshirsaz

5

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20 September 2017

Amirali Masoumi

6

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20 September 2017

8 April 2010

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Journal of the American Society of Nephrology

20 September 2017

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20 September 2017

21

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20 September 2017

5

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20 September 2017

876-883

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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Ear and kidney syndromes: molecular versus clinical approach

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

The clinical spectrum of type IV collagen mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

A mutation causing Alport syndrome with tardive hearing loss is common in the western United States

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Alport's syndrome. A report of 58 cases and a review of the literature

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Genetic heterogeneity among kindreds with Alport syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Genetics of classic Alport's syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Molecular genetics of Alport syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Alport syndrome. A review of the ocular manifestations

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Genetic heterogeneity of Alport syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Phenotypic and genotypic features of Alport syndrome in Chinese children.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Structure of the human type IV collagen COL4A5 gene.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865738

Diagnosis of Alport syndrome without biopsy?

20 August 2018

1 reference

12 December 2020

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12 December 2020

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

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12 December 2020

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

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12 December 2020

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP

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12 December 2020

Alport syndrome and thin glomerular basement membrane disease

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12 December 2020

Identifiers

DOI

10.1681/ASN.2009070784

1 reference

20 September 2017

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20 September 2017

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