(Q24623891)

3

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author name string

Hoa T Truong

1

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Tracy Dudding

2

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Sarah H Elsea

Creative Commons Attribution 2.0 Generic

4

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language of work or name

English

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publication date

8 October 2010

5 references

20 June 2019

30 June 2019

14 September 2019

22 December 2019

22 December 2020

5 references

20 June 2019

30 June 2019

14 September 2019

22 December 2019

22 December 2020

11

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issue

1

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page(s)

142

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copyright license

5 references

20 June 2019

30 June 2019

14 September 2019

22 December 2019

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

22 December 2020

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

Mutations in RAI1 associated with Smith-Magenis syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-142

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-142

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-142

Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-142

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-142

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964533

Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20932317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-11-142

1 reference

Dimensions Publication ID

1043770205

0 references

1 reference

1 reference

PubMed publication ID

20932317

1 reference