Lowe Syndrome Mutation Database

References

1. Leahey AM, Charnas LR, Nussbaum RL (1993) Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 4: 461-463. [Entrez]

2. Lin T, Orrison B, Leahey AM, Suchy S, Bernard D, Lewis RA, Nussbaum RL (1997) Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 60: 1384-1388. [Entrez]

3. Lin T, Orrison B, Suchy SF, Lewis RA, Nussbaum RL (1998) Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab 64: 58-61. [Entrez]

4. Kawano T, Indo Y, Nakazato h, Shimadzu M, Matsuda I (1998) Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet 77: 348-355. [Entrez]

5. Kubota T, Sakurai A, Arakawa K, Shimazu m, Wakui K, Furihata K, Fukushima Y (1998) Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet 54: 199-202. [Entrez]

6. Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk P-S, Lopez-Pajares I et al. (1999) Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet 65: 68-76. [Entrez]

7. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J (2000) OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat 16: 157-165. [Entrez]

8. Gal A (unpublished data).

9. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S (2000) Carrier assessment in families with Lowe Oculocerebrorenal syndrome: Novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab 69:213-222. [Entrez]

10. Gropman AL, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum RL (2000) Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 95: 461-466. [Entrez]

11. Lin T, Nussbaum RL. Unpublished data

12. Peverall J, Edkins E, Goldblatt J, et al. (2000) Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet 58: 479-482. [Entrez]

13. Lin T, Suchy SF, Innis J, Nussbaum RL. A splice donor +4 mutation causes Lowe syndrome. (Manuscript in preparation)

14. Schneider JF, Boltshauser E, Neuhaus TJ, Rauscher C, Martin E. (2001) MRI and proton spectroscopy in Lowe syndrome. Neuropediatrics 32: 45-48. [Entrez]