| Evidence | Deletion in Kidney Neoplasms
- Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M, Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M PTEN/MMAC1/TEP1 mutations in human primary renal-cell carcinomas and renalcarcinoma cell lines. Int J Cancer 2001 Jan 15;91(2):219-24.
- Alimov A, Li C, Gizatullin R, Fredriksson V, Sundelin B, Klein G, Zabarovsky E, Bergerheim U, Alimov A, Li C, Gizatullin R, Fredriksson V, Sundelin B, Klein G, Zabarovsky E, Bergerheim U Somatic mutation and homozygous deletion of PTEN/MMAC1 gene of 10q23 inrenal cell carcinoma. Anticancer Res 1999 Sep-Oct;19(5B):3841-6.
Deletion in System Syndrom with Kidney Involvment
- Peverall J, Edkins E, Goldblatt J, Murch A Identification of a novel deletion of the entire OCRL1 gene detected byFISH analysis in a family with Lowe syndrome. Clin Genet 2000 Dec;58(6):479-82.
- Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J, Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J OCRL1 mutation analysis in French Lowe syndrome patients: implications formolecular diagnosis strategy and genetic counseling. Hum Mutat 2000;16(2):157-65.
Mutation in System Syndrom with Kidney Involvment
- Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y Identification of two novel mutations in the OCRL1 gene in Japanesefamilies with Lowe syndrome. Clin Genet 1998 Sep;54(3):199-202.
- Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL, Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL Mutations are not uniformly distributed throughout the OCRL1 gene in Lowesyndrome patients. Mol Genet Metab 1998 May;64(1):58-61.
- Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J, Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J OCRL1 mutation analysis in French Lowe syndrome patients: implications formolecular diagnosis strategy and genetic counseling. Hum Mutat 2000;16(2):157-65.
Other key publications related to this gene
|
