(Q71765371)

English

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

scientific article published on 01 October 1996

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

autosomal dominant polycystic kidney disease

1 reference

based on heuristic

inferred from title

autosomal dominant polycystic kidney

1 reference

based on heuristic

inferred from title

author name string

S Rossetti

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

E Bresin

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

G Restagno

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Carbonara

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

S Corrà

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

O De Prisco

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

P F Pignatti

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A E Turco

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 October 1996

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

65

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

155-159

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C155%3A%3AAID-AJMG15%3E3.0.CO%3B2-P

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8911610%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q71765371&oldid=1933486216"