TY - JOUR AU - Richards, W. AU - Donnell, G. N. AU - Wilson, W. A. AU - Stowens, D. AU - Perry, T. PY - 1965 DA - 1965// TI - The oculo-cerebro-renal syndrome of Lowe JO - Am J Dis Child VL - 109 ID - Richards1965 ER - TY - JOUR AU - Lowe, C. U. AU - Terrey, M. AU - Mac, L. E. PY - 1952 DA - 1952// TI - Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity JO - AMA Am J Dis Child VL - 83 ID - Lowe1952 ER - TY - JOUR AU - Loi, M. PY - 2006 DA - 2006// TI - Lowe syndrome JO - Orphanet J Rare Dis VL - 1 UR - https://doi.org/10.1186/1750-1172-1-16 DO - 10.1186/1750-1172-1-16 ID - Loi2006 ER - TY - JOUR AU - Ruellas, A. C. O. AU - Pithon, M. M. AU - Oliveira, D. D. AU - Oliveira, A. M. PY - 2008 DA - 2008// TI - Lowe syndrome: literature review and case report JO - J Orthod VL - 35 UR - https://doi.org/10.1179/146531207225022599 DO - 10.1179/146531207225022599 ID - Ruellas2008 ER - TY - JOUR AU - Hodgson, S. V. AU - Hckmat, J. Z. AU - Hughes, E. AU - Crolla, J. A. AU - Dubowitz, V. AU - Bobrow, M. PY - 1986 DA - 1986// TI - A balanced de novo X/autosome translocation in a girl with manifestation of Lowe syndrome JO - Am J Med Genet VL - 23 UR - https://doi.org/10.1002/ajmg.1320230311 DO - 10.1002/ajmg.1320230311 ID - Hodgson1986 ER - TY - JOUR AU - Mueller, O. Y. AU - Hartsfield, J. K. AU - Gallardo, L. A. AU - Essig, Y. P. AU - Miller, K. L. AU - Papemhausen, P. R. AU - Tedesco, T. A. PY - 1991 DA - 1991// TI - Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: Mapping of the X chromosome breakpoint JO - Am J Hum Genet VL - 49 ID - Mueller1991 ER - TY - STD TI - Lowe Syndrome. Genetics Home Reference. U.S. National Library of Medicine [updated cited November 2013]. https://ghr.nlm.nih.gov/condition/lowe-syndrome#genes. UR - https://ghr.nlm.nih.gov/condition/lowe-syndrome#genes ID - ref7 ER - TY - JOUR AU - Olivos-Glander, I. M. AU - Janne, P. A. AU - Nussbaum, R. L. PY - 1995 DA - 1995// TI - The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex JO - Am J Hum Genet VL - 57 ID - Olivos-Glander1995 ER - TY - JOUR AU - Suchy, S. F. AU - Nussbaum, R. L. PY - 2002 DA - 2002// TI - The deficiency of PIP(2) 5-phosphatase in Lowe syndrome affects actin polymerization JO - Am J Hum Genet VL - 71 UR - https://doi.org/10.1086/344517 DO - 10.1086/344517 ID - Suchy2002 ER - TY - JOUR AU - Berridge, M. J. AU - Irvine, R. F. PY - 1989 DA - 1989// TI - Inositol phosphates and cell signalling JO - Nature VL - 341 UR - https://doi.org/10.1038/341197a0 DO - 10.1038/341197a0 ID - Berridge1989 ER - TY - JOUR AU - Bockenhauer, D. AU - Bokenkamp, A. AU - Nuutinen, M. AU - Unwin, R. AU - Hoff, W. AU - Sirimanna, T. AU - Vrljicak, K. AU - Ludwig, M. PY - 2012 DA - 2012// TI - Novel OCRL mutations in patients with Dent-2 disease JO - J Pediat Genet VL - 1 UR - https://doi.org/10.3233/PGE-2012-005 DO - 10.3233/PGE-2012-005 ID - Bockenhauer2012 ER - TY - JOUR AU - Charnas, L. R. AU - Bernardini, I. AU - Rader, D. AU - Hoeg, J. AU - Gahl, W. A. PY - 1991 DA - 1991// TI - Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function JO - N Engl J Med VL - 324 UR - https://doi.org/10.1056/NEJM199105093241904 DO - 10.1056/NEJM199105093241904 ID - Charnas1991 ER - TY - JOUR AU - Kenworthy, L. AU - Park, T. AU - Charnas, L. R. PY - 1993 DA - 1993// TI - Cognitive and behavioural profile of the oculocerebrorenal syndrome of Lowe JO - Am J Med Genet VL - 46 UR - https://doi.org/10.1002/ajmg.1320460312 DO - 10.1002/ajmg.1320460312 ID - Kenworthy1993 ER - TY - JOUR AU - Charnas, L. AU - Bernar, J. AU - Pereshkpour, G. H. AU - Dalakas, M. AU - Harper, G. S. AU - Gahal, W. A. PY - 1988 DA - 1988// TI - MRI findings and peripheral neuropathy in Lowe syndrome JO - Neuropediatrics VL - 19 UR - https://doi.org/10.1055/s-2008-1052393 DO - 10.1055/s-2008-1052393 ID - Charnas1988 ER - TY - BOOK AU - McSpadden, K. AU - Dolinsky, Z. AU - Schroerlucke, K. PY - 1991 DA - 1991// TI - Report on the Lowe’s syndrome comprehensive survey PB - Lowe Syndrome Association CY - West Lafayette ID - McSpadden1991 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. AU - Grody, W. W. AU - Hegde, M. AU - Lyon, E. AU - Spector, E. AU - Voelkerding, K. AU - Rehm, H. L. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Amor, D. J. AU - Kerr, A. AU - Somanathan, A. AU - McEwen, A. AU - Tome, M. AU - Hodgson, J. AU - Lewis, S. PY - 2018 DA - 2018// TI - Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors JO - Reprod Health VL - 15 UR - https://doi.org/10.1186/s12978-018-0468-9 DO - 10.1186/s12978-018-0468-9 ID - Amor2018 ER - TY - JOUR AU - Dondorp, W. AU - Wert, G. AU - Pennings, G. AU - Shenfield, F. AU - Devroey, P. AU - Tarlatzis, B. AU - Barri, P. AU - Diedrich, K. AU - Eichenlaub-Ritter, U. AU - Tüttelmann, F. AU - Provoost, V. PY - 2014 DA - 2014// TI - ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues JO - Hum Reprod VL - 29 UR - https://doi.org/10.1093/humrep/deu111 DO - 10.1093/humrep/deu111 ID - Dondorp2014 ER - TY - JOUR AU - Roschinger, W. AU - Muntau, A. C. AU - Rudolph, G. AU - Roscher, A. A. AU - Kammerer, S. PY - 2000 DA - 2000// TI - Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination JO - Mol Genet Metab VL - 69 UR - https://doi.org/10.1006/mgme.1999.2955 DO - 10.1006/mgme.1999.2955 ID - Roschinger2000 ER - TY - JOUR AU - Gardner, R. G. M. AU - Brown, N. PY - 1976 DA - 1976// TI - Lowe’s syndrome: identification of carriers by lens examination JO - J Med Genet VL - 13 UR - https://doi.org/10.1136/jmg.13.6.449 DO - 10.1136/jmg.13.6.449 ID - Gardner1976 ER - TY - JOUR AU - Monnier, N. AU - Satre, V. AU - Lerouge, E. AU - Berthoin, F. AU - Lunardi, J. PY - 2000 DA - 2000// TI - OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counselling JO - Hum Mut VL - 16 UR - https://doi.org/3.0.CO;2-9 DO - 3.0.CO;2-9 ID - Monnier2000 ER - TY - JOUR AU - Lin, T. AU - Lewis, R. A. AU - Nussbaum, R. L. PY - 1999 DA - 1999// TI - Molecular confirmation of carriers for Lowe syndrome JO - Ophthalmology VL - 106 UR - https://doi.org/10.1016/S0161-6420(99)90012-X DO - 10.1016/S0161-6420(99)90012-X ID - Lin1999 ER - TY - JOUR AU - Daskalakis, G. AU - Anastasakis, E. AU - Lyberopoulos, E. AU - Antsaklis, A. PY - 2010 DA - 2010// TI - Prenatal detection of congenital cataract in a fetus with Lowe syndrome JO - Obstetric Case Rep VL - 4 ID - Daskalakis2010 ER - TY - JOUR AU - Blyth, E. PY - 2012 DA - 2012// TI - Guidelines for infertility counseling in different countries: is there an emerging trend? JO - Hum Reprod VL - 7 UR - https://doi.org/10.1093/humrep/des112 DO - 10.1093/humrep/des112 ID - Blyth2012 ER - TY - JOUR AU - Benward, J. PY - 2015 DA - 2015// TI - Mandatory counseling for gamete donation recipients: ethical dilemmas JO - Fert Steril VL - 104 UR - https://doi.org/10.1016/j.fertnstert.2015.07.1154 DO - 10.1016/j.fertnstert.2015.07.1154 ID - Benward2015 ER - TY - JOUR AU - Ropers, H. H. PY - 2012 DA - 2012// TI - On the future of genetic risk assessment JO - J Community Genet VL - 3 UR - https://doi.org/10.1007/s12687-012-0092-2 DO - 10.1007/s12687-012-0092-2 ID - Ropers2012 ER -