C. Lowe, M. Terrey, and E. Maclachlan, ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>, Archives of Pediatrics & Adolescent Medicine, vol.83, issue.2, pp.164-84, 1952.
DOI : 10.1001/archpedi.1952.02040060030004

O. Attree, I. Olivos, and I. Okabe, The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase, Nature, vol.358, issue.6383, pp.239-281, 1992.
DOI : 10.1038/358239a0

R. Nussbaum, B. Orrison, P. Jänne, L. Charnas, and A. Chinault, Physical mapping and genomic structure of the Lowe syndrome gene OCRL1, Human Genetics, vol.99, issue.2, pp.145-50, 1997.
DOI : 10.1007/s004390050329

S. Lloyd, S. Pearce, and S. Fisher, A common molecular basis for three inherited kidney stone diseases, Nature, vol.379, issue.6564, pp.445-454, 1996.
DOI : 10.1038/379445a0

H. Jr, R. Shrimpton, A. Knohl, and S. , Dent disease with mutations in OCRL1, Am J Hum Genet Erratum in Am J Hum Genet, vol.7681, issue.2, pp.260-7634, 2005.

N. Monnier, V. Satre, E. Lerouge, F. Berthoin, and J. Lunardi, OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling, Human Mutation, vol.16, issue.2, pp.157-65, 2000.
DOI : 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9

T. Lin, B. Orrison, and A. Leahey, Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome, The American Journal of Human Genetics, vol.60, issue.6, pp.1384-1392, 1997.
DOI : 10.1086/515471

J. Peverall, E. Edkins, J. Goldblatt, and A. Murch, Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome, Clinical Genetics, vol.57, issue.9, pp.479-82, 2000.
DOI : 10.1034/j.1399-0004.2000.580609.x

M. Addis, C. Meloni, and R. Congiu, A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome, European Journal of Medical Genetics, vol.50, issue.1, pp.79-84, 2007.
DOI : 10.1016/j.ejmg.2006.10.003

V. Satre, N. Monnier, and F. Berthoin, Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene, The American Journal of Human Genetics, vol.65, issue.1, pp.68-76, 1999.
DOI : 10.1086/302443

S. Hodgson, J. Heckmatt, E. Hughes, J. Crolla, V. Dubowitz et al., A balanced de novo X/autosome translocation in a girl with manifestations of lowe syndrome, American Journal of Medical Genetics, vol.18, issue.3, pp.837-884, 1986.
DOI : 10.1002/ajmg.1320230311

M. Cau, M. Addis, and R. Congiu, A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome, Journal of Human Genetics, vol.256, issue.11, pp.1030-1036, 2006.
DOI : 10.1007/s10038-006-0049-6

B. Janssen, C. Hartmann, V. Scholz, A. Jauch, and J. Zschocke, MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls, Neurogenetics, vol.11, issue.1, pp.29-35, 2005.
DOI : 10.1007/s10048-004-0204-1

K. Lai, I. Lo, T. Tong, L. Cheng, and S. Lam, Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA), Clinical Biochemistry, vol.39, issue.4, pp.367-72, 2006.
DOI : 10.1016/j.clinbiochem.2005.11.019

J. Schouten, C. Mcelgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens et al., Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, Nucleic Acids Research, vol.30, issue.12, p.30, 2002.
DOI : 10.1093/nar/gnf056

URL : http://doi.org/10.1093/nar/gnf056

R. Stern, R. Roberts, K. Mann, S. Yau, J. Berg et al., Multiplex ligationdependent probe amplification using a completely synthetic probe set, Biotechniques, vol.37, pp.399-405, 2004.

S. White, G. Vink, and M. Kriek, Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses, Human Mutation, vol.33, issue.1, pp.86-92, 2004.
DOI : 10.1002/humu.20054

J. Zhi and E. Hatchwell, Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays, BMC Genomics, vol.9, issue.1, p.407, 2008.
DOI : 10.1186/1471-2164-9-407

URL : http://doi.org/10.1186/1471-2164-9-407

P. Kozlowski, P. Roberts, and S. Dabora, Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations, Human Genetics, vol.45, issue.3-4, pp.389-400, 2007.
DOI : 10.1007/s00439-006-0308-9

P. Kozlowski, A. Jasinska, and D. Kwiatkowski, New applications and developments in the use of multiplex ligation-dependent probe amplification, ELECTROPHORESIS, vol.40, issue.23, pp.4627-4663, 2008.
DOI : 10.1002/elps.200800126