(Q35559819)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

Clinical and genetic studies of Birt-Hogg-Dubé syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

11

1 reference

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15 December 2019

Pascal Hammel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Maria Bradley

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Magnus Nordenskjöld

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

author name string

S K Khoo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

S Giraud

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

K Kahnoski

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

J Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

O Motorna

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

R Nickolov

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

O Binet

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

D Lambert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

J Friedel

9

1 reference

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15 December 2019

R Lévy

10

1 reference

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15 December 2019

P Wolkenstein

12

1 reference

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15 December 2019

U Bergerheim

14

1 reference

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15 December 2019

M-A Hedblad

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

B T Teh

17

1 reference

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15 December 2019

S Richard

19

1 reference

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15 December 2019

language of work or name

English

0 references

publication date

1 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

15 December 2019

published in

1 reference

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15 December 2019

volume

39

1 reference

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15 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

page(s)

906-912

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

15 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

DNA synthesis errors, mutators and cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Parametric and nonparametric linkage analysis: a unified multipoint approach

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Multiple fibrofolliculomas and trichodiscomas.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Multiple fibrofolliculomas (Birt-Hogg-Dubé) associated with a large connective tissue nevus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Tumor suppressor genes (TSG).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757219

Fibrofolliculoma: a clinicopathologic study

26 September 2018

1 reference

12 December 2020

Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis

1 reference

12 December 2020

Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs

1 reference

12 December 2020

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

12 December 2020

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation

1 reference

12 December 2020

Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.12.906

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12471204%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference