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American Journal of Human Genetics|December 1, 1996
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeB Knebelmann, C Breillat, L Forestier, et al.
Nature Genetics|December 17, 1997
Donor splice-site mutations in WT1 are responsible for Frasier syndromeS Barbaux, P Niaudet, M C Gubler, et al.
American Journal of Human Genetics|June 13, 1998
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation databaseC Jeanpierre, E Denamur, I Henry, et al.
Gastroenterology|October 19, 2001
Recrudescence and reinfection with Helicobacter pylori after eradication therapy in Bangladeshi adultsP Hildebrand, P Bardhan, L Rossi, et al.
Cytogenetics and Cell Genetics|January 1, 1997
Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionL Heidet, L Cohen-Solal, E Boye, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1997
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridizationL Heidet, Y Cai, Y Sado, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
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