Neuropathology of holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.70, issue.1, pp.109-128, 2010. ,
DOI : 10.1002/ajmg.c.30249
Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases, Teratology, vol.70, issue.3, pp.261-72, 1977. ,
DOI : 10.1002/tera.1420160304
Epidemiology of holoprosencephaly: Prevalence and risk factors, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.70, issue.1, pp.13-21, 2010. ,
DOI : 10.1002/ajmg.c.30233
The Face Predicts the Brain: Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly (Arhinencephaly) ,
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals, Journal of Medical Genetics, vol.47, issue.8, pp.513-537, 2009. ,
DOI : 10.1136/jmg.2009.073049
URL : https://hal.archives-ouvertes.fr/inserm-00439659
Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies, American Journal of Neuroradiology, vol.31, issue.9, pp.1596-601, 2010. ,
DOI : 10.3174/ajnr.A2123
Middle interhemispheric fusion: an unusual variant of holoprosencephaly, AJNR Am J Neuroradiol, vol.14, issue.2, pp.431-471, 1993. ,
Phenotypic and molecular variability of the holoprosencephalic spectrum, American Journal of Medical Genetics Part A, vol.17, issue.2, pp.21-25, 2004. ,
DOI : 10.1002/ajmg.a.30110
The middle interhemispheric variant of holoprosencephaly, AJNR Am J Neuroradiol, vol.23, issue.1, pp.151-157, 2002. ,
Holoprosencephaly: An update on cytogenetic abnormalities, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.22, issue.1, pp.86-92, 2010. ,
DOI : 10.1002/ajmg.c.30250
URL : https://hal.archives-ouvertes.fr/inserm-00462057
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.30, issue.1, pp.93-101, 2010. ,
DOI : 10.1002/ajmg.c.30253
URL : https://hal.archives-ouvertes.fr/inserm-00462036
The molecular genetics of holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.129, issue.1, pp.52-61, 2010. ,
DOI : 10.1002/ajmg.c.30236
Non-genetic risk factors for holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.116, issue.1, pp.73-85, 2010. ,
DOI : 10.1002/ajmg.c.30242
Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.116, issue.1, pp.62-72, 2010. ,
DOI : 10.1002/ajmg.c.30244
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
URL : http://doi.org/10.1086/344412
Genetic counseling and ???molecular??? prenatal diagnosis of holoprosencephaly (HPE), American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.27, issue.1, pp.191-197, 2010. ,
DOI : 10.1002/ajmg.c.30246
URL : https://hal.archives-ouvertes.fr/inserm-00461987
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
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function, Journal of Medical Genetics, vol.46, issue.6, pp.389-98, 2009. ,
DOI : 10.1136/jmg.2008.063818
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes, European Journal of Human Genetics, vol.140, issue.9, pp.999-1005, 2010. ,
DOI : 10.1002/pd.1385
URL : https://hal.archives-ouvertes.fr/hal-00544822
Analysis of genotype-phenotype correlations in human holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.22, issue.1, pp.133-174, 2010. ,
DOI : 10.1002/ajmg.c.30240
URL : https://hal.archives-ouvertes.fr/inserm-00461997
Segregation analysis in nonsyndromic holoprosencephaly, American Journal of Medical Genetics, vol.33, issue.2, pp.139-182, 1998. ,
DOI : 10.1002/(SICI)1096-8628(19980501)77:2<139::AID-AJMG6>3.0.CO;2-N
Clinical findings in patients with GLI2 mutations - phenotypic variability, Clinical Genetics, vol.149, issue.1, 2010. ,
DOI : 10.1111/j.1399-0004.2010.01606.x
GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?, American Journal of Medical Genetics Part A, vol.14, issue.23, pp.2571-2577, 2006. ,
DOI : 10.1002/ajmg.a.31370
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 ,
DOI : 10.1073/pnas.2235734100
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.1175-82, 2009. ,
DOI : 10.1002/humu.21016
URL : https://hal.archives-ouvertes.fr/inserm-00404487
Austria: R Foundation for Statistical Computing, 2009. ,
gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis, Human Mutation, vol.30, issue.10, pp.921-956, 2009. ,
DOI : 10.1002/humu.21090
URL : https://hal.archives-ouvertes.fr/inserm-00406224
gene in humans predicts loss-of-function as the predominant disease mechanism, Human Mutation, vol.30, issue.4, pp.541-54, 2009. ,
DOI : 10.1002/humu.20982
URL : https://hal.archives-ouvertes.fr/inserm-00365990
Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly, Journal of Biological Chemistry, vol.279, issue.41, pp.42889-97, 2004. ,
DOI : 10.1074/jbc.M405161200
URL : https://hal.archives-ouvertes.fr/hal-00169857
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly, Human Genetics, vol.33, issue.5, pp.555-61, 2010. ,
DOI : 10.1007/s00439-010-0797-4
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly, European Journal of Human Genetics, vol.8, issue.10, pp.797-800, 2000. ,
DOI : 10.1038/sj.ejhg.5200540
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations, Journal of Medical Genetics, vol.42, issue.1, p.4, 2005. ,
DOI : 10.1136/jmg.2004.023416
Clinical utility gene card for: Holoprosencephaly, European Journal of Human Genetics, vol.19, issue.1, pp.118-138, 2010. ,
DOI : 10.1002/ajmg.c.30254
URL : https://hal.archives-ouvertes.fr/inserm-00511701
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation, European Journal of Pediatrics, vol.163, issue.7, pp.347-52, 2004. ,
DOI : 10.1007/s00431-004-1459-0
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases, Acta Neuropathologica, vol.103, issue.2, pp.185-200, 2009. ,
DOI : 10.1007/s00401-008-0469-9
URL : https://hal.archives-ouvertes.fr/inserm-00353294
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2, American Journal of Medical Genetics Part A, vol.40, issue.7 ,
DOI : 10.1002/ajmg.a.34029
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
25 HOLOPROSENCEPHALY AND AGENESIS OF THE CORPUS CALLOSUM. FREQUENCY OF ASSOCIATED MALFORMATIONS, Journal of Neuropathology and Experimental Neurology, vol.40, issue.3, pp.1-10, 1981. ,
DOI : 10.1097/00005072-198105000-00032
Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly, The Journal of Clinical Endocrinology & Metabolism, vol.95, issue.11, pp.384-91, 2010. ,
DOI : 10.1210/jc.2010-1050
NOTCH, a new signaling pathway implicated in holoprosencephaly, Human Molecular Genetics, vol.20, issue.6, pp.1122-1153, 2011. ,
DOI : 10.1093/hmg/ddq556
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE, Human Genetics, vol.10, issue.4, pp.421-461, 2010. ,
DOI : 10.1007/s00439-009-0778-7
Microform Holoprosencephaly in Mice that Lack the Ig Superfamily Member Cdon, Current Biology, vol.13, issue.5, pp.411-416, 2003. ,
DOI : 10.1016/S0960-9822(03)00088-5
Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly, Developmental Cell, vol.15, issue.2, pp.236-283, 2008. ,
DOI : 10.1016/j.devcel.2008.07.003
Identification of common and unique modifiers of zebrafish midline bifurcation and cyclopia, Developmental Biology, vol.326, issue.1, pp.201-212, 2009. ,
DOI : 10.1016/j.ydbio.2008.11.008
The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly, Human Molecular Genetics, vol.8, issue.13, pp.2479-88, 1999. ,
DOI : 10.1093/hmg/8.13.2479
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2, American Journal of Medical Genetics Part A, vol.106, issue.4, 2011. ,
DOI : 10.1002/ajmg.a.33903