Author/Creator: Toro, J R - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Toro, J R

1. BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports. Issue 6 (30th January 2008)

Authors:: Toro, J R; Wei, M-H; Glenn, G M; Weinreich, M; Toure, O; Vocke, C; Turner, M; Choyke, P; Merino, M J; Pinto, P A; Steinberg, S M; Schmidt, L S; Linehan, W M
Journal:: Journal of medical genetics
Issue:: Volume 45:Issue 6(2008)
Page Start:: 321
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

2. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. Issue 2 (1st February 2002)

Authors:: Toro, J R; Shevchenko, Y O; Compton, J G; Bale, S J
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 2(2002)
Page Start:: e10
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

3. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. Issue 9 (5th April 2006)

Authors:: Pithukpakorn, M; Wei, M-H; Toure, O; Steinbach, P J; Glenn, G M; Zbar, B; Linehan, W M; Toro, J R
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 9(2006)
Page Start:: 755
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

4. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. Issue 1 (3rd June 2005)

Authors:: Wei, M-H; Toure, O; Glenn, G M; Pithukpakorn, M; Neckers, L; Stolle, C; Choyke, P; Grubb, R; Middelton, L; Turner, M L; Walther, M M; Merino, M J; Zbar, B; Linehan, W M; Toro, J R
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 1(2006)
Page Start:: 18
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

5. Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. Issue 2 (23rd October 2008)

Authors:: Farasat, S; Wei, M-H; Herman, M; Liewehr, D J; Steinberg, S M; Bale, S J; Fleckman, P; Toro, J R
Journal:: Journal of medical genetics
Issue:: Volume 46:Issue 2(2009)
Page Start:: 103
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗