E. Belloni, M. Muenke, E. Roessler, G. Traverso, J. Siegel-bartelt et al., Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly, Nature Genetics, vol.13, issue.3, pp.353-359, 1996.
DOI : 10.1006/geno.1996.0469

C. Bendavid, C. Dubourg, I. Gicquel, L. Pasquier, P. Saugier-veber et al., Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes, Human Genetics, vol.22, issue.1-2, pp.1-8, 2006.
DOI : 10.1007/s00439-005-0097-6

C. Bendavid, C. Dubourg, L. Pasquier, I. Gicquel, L. Gallou et al., MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly, Human Mutation, vol.80, issue.12, pp.1189-97, 2007.
DOI : 10.1002/humu.20594

C. Bendavid, B. Haddad, A. Griffin, M. Huizing, C. Dubourg et al., Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype, J Med Genet, 2006.

S. Brown, D. Warburton, L. Brown, C. Yu, E. Roeder et al., Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired, Nature Genetics, vol.20, issue.2, pp.180-183, 1998.
DOI : 10.1038/2484

N. Carter, Methods and strategies for analyzing copy number variation using DNA microarrays, Nature Genetics, vol.5, issue.7s, pp.16-21, 2007.
DOI : 10.1038/ng2028

M. Cohen and . Jr, Holoprosencephaly: Clinical, anatomic, and molecular dimensions, Birth Defects Research Part A: Clinical and Molecular Teratology, vol.2, issue.9, pp.658-73, 2006.
DOI : 10.1002/bdra.20295

J. De-la-cruz, R. Bamford, R. Burdine, E. Roessler, A. Barkovich et al., A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects, Human Genetics, vol.110, issue.5, pp.422-430, 2002.
DOI : 10.1007/s00439-002-0709-3

C. Dubourg, L. Lazaro, L. Pasquier, C. Bendavid, M. Blayau et al., Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations, Human Mutation, vol.97, issue.1, pp.43-51, 2004.
DOI : 10.1002/humu.20056

R. Edison, K. Berg, A. Remaley, R. Kelley, C. Rotimi et al., Adverse Birth Outcome Among Mothers With Low Serum Cholesterol, PEDIATRICS, vol.120, issue.4, pp.723-756, 2007.
DOI : 10.1542/peds.2006-1939

K. Gripp, D. Wotton, M. Edwards, E. Roessler, L. Ades et al., Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, Nat Genet, vol.25, issue.2, pp.205-213, 2000.

F. Hogervorst, P. Nederlof, J. Gille, C. Mcelgunn, M. Grippeling et al., Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method, Cancer Res, vol.63, issue.7, pp.1449-53, 2003.

D. Kamnasaran, C. Chen, K. Devriendt, L. Mehta, and D. Cox, Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes, Genomics, vol.85, issue.5, pp.608-629, 2005.
DOI : 10.1016/j.ygeno.2005.01.010

H. Kuniba, M. Tsuda, M. Nakashima, S. Miura, N. Miyake et al., Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan, Journal of Medical Genetics, vol.45, issue.7, pp.479-80, 2008.
DOI : 10.1136/jmg.2008.058503

C. Largo, B. Saez, S. Alvarez, J. Suela, B. Ferreira et al., Multiple myeloma primary cells show a highly rearranged unbalanced genome with amplifications and homozygous deletions irrespective of the presence of immunoglobulin-related chromosome translocations, Haematologica, vol.92, issue.6, pp.795-802, 2007.
DOI : 10.3324/haematol.11052

N. Maas, T. Van-de-putte, C. Melotte, A. Francis, C. Schrander-stumpel et al., The C20orf133 gene is disrupted in a patient with Kabuki syndrome, Journal of Medical Genetics, vol.44, issue.9, pp.562-571, 2007.
DOI : 10.1136/jmg.2007.049510

S. Maretto, P. Muller, A. Aricescu, K. Cho, E. Bikoff et al., Ventral closure, headfold fusion and definitive endoderm migration defects in mouse embryos lacking the fibronectin leucine-rich transmembrane protein FLRT3, Developmental Biology, vol.318, issue.1, pp.184-93, 2008.
DOI : 10.1016/j.ydbio.2008.03.021

J. Ming and M. Muenke, Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly, The American Journal of Human Genetics, vol.71, issue.5, pp.1017-1049, 2002.
DOI : 10.1086/344412

M. Ouspenskaia, J. Karkera, E. Roessler, M. Shen, E. Goldmunts et al., Role of FAST1 gene in the development of holoprosencephaly (HPE) and congenital cardiac malformations in humans, p.822, 2002.

E. Roessler, E. Belloni, K. Gaudenz, P. Jay, P. Berta et al., Mutations in the human Sonic Hedgehog gene cause holoprosencephaly, Nature Genetics, vol.34, issue.3, pp.357-60, 1996.
DOI : 10.1038/ng0995-93

E. Roessler and M. Muenke, Holoprosencephaly: a paradigm for the complex genetics of brain development, Journal of Inherited Metabolic Disease, vol.21, issue.5, pp.481-97, 1998.
DOI : 10.1023/A:1005406719292

E. Roessler and M. Muenke, How a Hedgehog might see holoprosencephaly, Human Molecular Genetics, vol.12, issue.90001, pp.15-25, 2003.
DOI : 10.1093/hmg/ddg058

D. Wallis and M. Muenke, Molecular Mechanisms of Holoprosencephaly, Molecular Genetics and Metabolism, vol.68, issue.2, pp.126-164, 1999.
DOI : 10.1006/mgme.1999.2895