(Q55042748)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

1

1 reference

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Dominique Marcus-Soekarman

22 December 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Valerie L R M Verstraeten

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Jorge Frank

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Nicole W J Kelleners-Smeets

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Pamela Poblete-Gutiérrez

5

1 reference

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22 December 2019

Reno S Bladergroen

7

1 reference

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22 December 2019

Peter M Steijlen

8

1 reference

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22 December 2019

Michel van Geel

9

1 reference

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22 December 2019

language of work or name

English

0 references

publication date

23 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

22 December 2019

published in

1 reference

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22 December 2019

volume

127

1 reference

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22 December 2019

page(s)

588-593

1 reference

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22 December 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.jid.5700592

22 December 2019

exact match

0 references

cites work

Base-calling of automated sequencer traces using phred. II. Error probabilities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Consed: a graphical tool for sequence finishing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Renal Tumors in the Birt-Hogg-Dubé Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubè

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700592

7 January 2021

Identifiers

DOI

10.1038/SJ.JID.5700592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17124507%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 December 2019

0 references

1 reference