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

@article{Schmidt2005GermlineBS,
  title={Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dub{\'e} syndrome.},
  author={L. Schmidt and M. Nickerson and M. Warren and G. Glenn and J. Toro and M. Merino and M. Turner and P. Choyke and N. Sharma and James Peterson and P. Morrison and E. Maher and M. Walther and B. Zbar and W. Linehan},
  journal={American journal of human genetics},
  year={2005},
  volume={76 6},
  pages={
          1023-33
        }
}
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal neoplasms and spontaneous pneumothorax. Previously, we localized the BHD locus (also known as FLCN) to chromosome 17p11.2 by linkage analysis and subsequently identified germline mutations in a novel gene in probands from eight of the nine families with BHD in our screening panel. Affected members of five… Expand
337 Citations
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review
[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy].
A Case of Birt-Hogg-Dubé Syndrome
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 31 REFERENCES
Clinical and genetic studies of Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.
Expression of Birt–Hogg–Dubé gene mRNA in normal and neoplastic human tissues
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.
Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs.
Renal Tumors in the Birt-Hogg-Dubé Syndrome
...
1
2
3
4
...