Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics, The Journal of Molecular Diagnostics, vol.8, issue.5, pp.528-533, 2006. ,
DOI : 10.2353/jmoldx.2006.060029
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci, Human Mutation, vol.68, issue.Spec No 1, pp.1175-1182, 2009. ,
DOI : 10.1002/humu.21016
URL : https://hal.archives-ouvertes.fr/inserm-00404487
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
Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England, American Journal of Obstetrics and Gynecology, vol.184, issue.6, pp.1256-1262, 2001. ,
DOI : 10.1067/mob.2001.111071
Holoprosencephaly: Clinical, anatomic, and molecular dimensions, Birth Defects Research Part A: Clinical and Molecular Teratology, vol.2, issue.9, pp.658-673, 2006. ,
DOI : 10.1002/bdra.20295
Teratogenesis of holoprosencephaly, American Journal of Medical Genetics, vol.92, issue.5, pp.1-15, 2002. ,
DOI : 10.1002/ajmg.10258
Mutations in the human SIX3 gene in holoprosencephaly are loss of function, Human Molecular Genetics, vol.17, issue.24, pp.3919-3928, 2008. ,
DOI : 10.1093/hmg/ddn294
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
Functional analysis of mutations in TGIF associated with holoprosencephaly, Molecular Genetics and Metabolism, vol.90, issue.1, pp.97-111, 2007. ,
DOI : 10.1016/j.ymgme.2006.07.011
Evaluation and management of children with holoprosencephaly, Pediatric Neurology, vol.31, issue.2, pp.79-88, 2004. ,
DOI : 10.1016/j.pediatrneurol.2004.03.006
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein, Nature Genetics, vol.116, issue.11, pp.1348-53, 2008. ,
DOI : 10.1038/ng.230
URL : https://hal.archives-ouvertes.fr/inserm-00353024
Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies, The American Journal of Human Genetics, vol.80, issue.4, pp.727-739, 2007. ,
DOI : 10.1086/513473
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function, Journal of Medical Genetics, vol.46, issue.6, pp.389-398, 2009. ,
DOI : 10.1136/jmg.2008.063818
The impact of next-generation sequencing technology on genetics, Trends in Genetics, vol.24, issue.3, pp.133-141, 2008. ,
DOI : 10.1016/j.tig.2007.12.007
Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases, Teratology, vol.70, issue.3, pp.261-272, 1977. ,
DOI : 10.1002/tera.1420160304
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly, Human Genetics, vol.110, issue.4, pp.297-301, 2002. ,
DOI : 10.1007/s00439-002-0695-5
The Morphogen Signaling Network in Forebrain Development and Holoprosencephaly, Journal of Neuropathology & Experimental Neurology, vol.66, issue.7, pp.566-575, 2007. ,
DOI : 10.1097/nen.0b013e3180986e1b
Genetics of ventral forebrain development and holoprosencephaly, Current Opinion in Genetics & Development, vol.10, issue.3, pp.262-269, 2000. ,
DOI : 10.1016/S0959-437X(00)00084-8
Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection, Genomics, vol.52, issue.1, pp.44-49, 1998. ,
DOI : 10.1006/geno.1998.5411
An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995???2004, Prenatal Diagnosis, vol.33, issue.4, pp.340-347, 2007. ,
DOI : 10.1002/pd.1677
Clinical epidemiologic study of holoprosencephaly in South America, American Journal of Medical Genetics Part A, vol.33, issue.24, pp.3088-3099, 2007. ,
DOI : 10.1002/ajmg.a.32104
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms., Proceedings of the National Academy of Sciences, vol.86, issue.8, pp.2766-2770, 1989. ,
DOI : 10.1073/pnas.86.8.2766
High-resolution DNA melting analysis for simple and efficient molecular diagnostics, Pharmacogenomics, vol.8, issue.6, pp.597-608, 2007. ,
DOI : 10.2217/14622416.8.6.597
Holoprosencephaly: birth data, benetic and demographic analyses of 30 families, Birth Defects Orig Artic Ser, vol.11, issue.2, pp.294-313, 1975. ,
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly, Nature Genetics, vol.34, issue.3, pp.357-360, 1996. ,
DOI : 10.1038/ng0995-93
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features, Proceedings of the National Academy of Sciences, vol.100, issue.23, pp.13424-13429, 2003. ,
DOI : 10.1073/pnas.2235734100
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis, Hum Mutat, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00406224
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2, Human Molecular Genetics, vol.14, issue.15, 2005. ,
DOI : 10.1093/hmg/ddi222
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00365990
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans, Human Genetics, vol.279, issue.26, pp.393-400, 2009. ,
DOI : 10.1007/s00439-009-0628-7
URL : https://hal.archives-ouvertes.fr/inserm-00366120
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly, Molecular Genetics and Metabolism, vol.98, issue.1-2, pp.225-234, 2009. ,
DOI : 10.1016/j.ymgme.2009.05.005
A novel SIX3 mutation segregates with holoprosencephaly in a large family, American Journal of Medical Genetics Part A, vol.22, issue.5, pp.919-925, 2009. ,
DOI : 10.1002/ajmg.a.32813
Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments, Human Mutation, vol.17, issue.6, pp.876-883, 2009. ,
DOI : 10.1002/humu.20919
Mutations in holoprosencephaly, Human Mutation, vol.97, issue.2, pp.99-108, 2000. ,
DOI : 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, Nat Genet, vol.22, issue.2, pp.196-198, 1999. ,
High-resolution DNA melting analysis: advancements and limitations, Human Mutation, vol.64, issue.6, pp.857-859, 2009. ,
DOI : 10.1002/humu.20951