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13 in total

1. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors: I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

2. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

Authors: H G Brunner; A van Bennekom; E M Lambermon; T L Oei; W R Cremers; B Wieringa; H H Ropers
Journal: Hum Genet Date: 1988-12 Impact factor: 4.132

3. Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Authors: N Dahl; J Laporte; L Hu; V Biancalana; D Le Palier; D Cohen; C Piussan; J L Mandel
Journal: Am J Hum Genet Date: 1995-04 Impact factor: 11.025

4. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

Authors: R L Nussbaum; J G Lesko; R A Lewis; S A Ledbetter; D H Ledbetter
Journal: Proc Natl Acad Sci U S A Date: 1987-09 Impact factor: 11.205

Choroideremia, obesity, and congenital deafness.

1. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

2. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

3. Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

4. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

5. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

6. X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

7. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

8. Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells.

9. Progress in the development of novel therapies for choroideremia.

10. A bayesian translational framework for knowledge propagation, discovery, and integration under specific contexts.