Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. (Q24539086)

5 July 2017

title

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. (English)

1 reference

Juvenile nephronophthisis

5 July 2017

main subject

1 reference

0 references

Silbermann F

Silbermann

1 reference

20 October 2023

Weissenbach J

1 reference

ORCID Public Data File 2021

5 July 2017

1 reference

Saunier S

Saunier

1 reference

5 July 2017

Calado J

1 reference

5 July 2017

Benessy F

author given names

author last names

Benessy

1 reference

5 July 2017

Heilig R

author given names

author last names

Heilig

1 reference

5 July 2017

Antignac C

author given names

author last names

Antignac

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 March 2000

1 reference

American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

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5 July 2017

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5 July 2017

page(s)

778-789

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Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12

5 July 2017

cites work

1 reference

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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

24 March 2017

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

24 March 2017

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Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

24 March 2017

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

24 March 2017

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Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

24 March 2017

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24 March 2017

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Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity

24 March 2017

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Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

24 March 2017

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Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.

27 September 2017

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27 September 2017

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27 September 2017

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Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13.

27 September 2017

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27 September 2017

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Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

27 September 2017

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30 May 2018

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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

29 November 2018

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12 December 2020

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

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Crossref

https://api.crossref.org/works/10.1086%2F302819

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302819

1 reference

release_ubhpziwimnglrhnujfgb7aes3q

5 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

3367581

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

5 July 2017

1 reference