Lies H. Hoefsloot

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003)

Wissinger,Bernd, Van Driel,Marc A., Hoefsloot,Lies H., De Wijs,Ilse J., ...

Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003)

Wissinger, Bernd, Van Driel, Marc A., Hoefsloot, Lies H., De Wijs, Ilse J., ...

Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...

Hearing loss and connexin 26

Kemperman, Martijn H, Hoefsloot, Lies H

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, ...

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which...

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Van Wijk, Erwin, Pennings, Ronald J. E., Te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., ...

The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa. Since mutation...

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Duijf, Pascal H. G., Schoots, Jeroen, Van Kampen, Albert, Burckhardt, Andreas, ...

Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of...

Hearing loss and connexin 26

Kemperman, Martijn H, Hoefsloot, Lies H

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, ...

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which...