(Q33330773)

English

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13 (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Giant platelet disorder

1 reference

based on heuristic

inferred from title

Alport syndrome

1 reference

based on heuristic

inferred from title

Fechtner syndrome

1 reference

based on heuristic

inferred from title

Ninette Amariglio

2

object named as

N Amariglio

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

7

object named as

G Rechavi

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

4

object named as

A J Simon

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Frida Brok-Simoni

5

object named as

F Brok-Simoni

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Rozenfeld-Granot G

3

object named as

G Rozenfeld-Granot

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

author name string

A Toren

1

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

E Pras

6

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

language of work or name

0 references

publication date

1 December 1999

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

65

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

1711-1717

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Molecular genetics of Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Fechtner syndrome: report of a third family and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Identification of a single base insertion in the COL4A5 gene in Alport syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Hereditary macrothrombocytopathia, nephritis and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Editorial: Alport's syndrome: a consideration of pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Alport's syndrome. Emphasizing electron microscopic studies of the glomerulus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

The genes coding for human pro alpha 1(IV) collagen and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Fechtner syndrome: clinical and genetic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Deletions of the COL4A5 gene in patients with Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Hereditary Thrombocytopenia, Deafness, and Renal Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Thrombocytopenia, macrothrombocytopathia, nephritis and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

Alport’s Syndrome Associated with Macrothrombopathic Thrombocytopenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

31 October 2018

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288382

31 October 2018

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathologic characteristics of hereditary nephritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577925

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

release_5iboagu4hffrxawnghx2nvcxeu

1 reference

https://api.fatcat.wiki/v0/release/5iboagu4hffrxawnghx2nvcxeu

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

ResearchGate publication ID

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