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AISLO Associazione Italiana Sindrome di Lowe109
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"VIVERE CON LA SINDROME DI LOWE"

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REFERENZE MEDICO-SCIENTIFICHE

Hofbauer LC, Kuhne CA, Nies C, Heufelder AE. Identical twins with hypercalcaemia due to Lowe’s syndrome. Rheumatology (Oxford). 2001 Jan;40(1):107-8.

Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82.

Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6.

Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65.

Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. 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. 2000 Mar;69(3):213-22.

Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90.

Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.

Ungewickell AJ, Majerus PW. Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome. Proc Natl Acad Sci USA. 1999 Nov 9;96(23):13342-4.

Batirbaygil Y, Turgut M. Lowe syndrome: case report. J Clin Pediatr Dent. 1999 Summer;23(4):357-9.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet. 1999 Jul;65(1):68-76.

Tsuru T, Yamagata T, Momoi MY, Okabe I. Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis. Prenat Diagn. 1999 Mar;19(3):269-70.

Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999 Jan;106(1):119-22.

Suchy SF, Lin T, Horwitz JA, O’Brien WE, Nussbaum RL. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998 Nov;18(11):1117-21.

Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998 May;64(1):58-61.

Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet. 1998 Jun 5;77(5):348-55.

Janne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998 May 15;101(10):2042-53.

Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW. Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 1998 Jan 16;273(3):1574-82.

Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun;60(6):1384-8.

Donahue SP, Keech RV, Munden P, Scott WE. Baerveldt implant surgery in the treatment of advanced childhood glaucoma. J AAPOS. 1997 Mar;1(1):41-5.

Tsai SJ, O’Donnell D. Dental findings in an adult with Lowe’s syndrome. Spec Care Dentist. 1997 Nov-Dec;17(6):207-10.