186 2.1. Hypothèses de travail et étude du profil d'expression du syndrome d'Aicardi186 2.2. Analyse des résultats d'expression : les consensus établis, p.186 ,
Relations entre gène candidat et maladies ,
Lerique-Koechlin, A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities, Electroencephalogr. Clin. Neurophysiol, vol.19, pp.609-610, 1965. ,
Aicardi syndrome, Brain and Development, vol.27, issue.3, pp.164-171, 2005. ,
DOI : 10.1016/j.braindev.2003.11.011
Van den Veyver, Facial and physical features of Aicardi syndrome: infants to teenagers, Am. J. Med. Genet, pp.138-254, 2005. ,
Aicardi syndrome in two sisters, The Journal of Pediatrics, vol.115, issue.2, p.115, 1989. ,
DOI : 10.1016/S0022-3476(89)80085-X
The Aicardi Syndrome in a 47, XXY Male, Journal of Paediatrics and Child Health, vol.26, issue.4, pp.15-278, 1979. ,
DOI : 10.1111/j.1440-1754.1979.tb01246.x
Aicardi syndrome: old and new findings, Int. Pediatr, vol.14, pp.5-8, 1999. ,
Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA, Human Molecular Genetics, vol.9, issue.4, pp.477-488, 2000. ,
DOI : 10.1093/hmg/9.4.477
Froyen, X chromosome array-CGH for the identification of novel Xlinked mental retardation genes, Eur. J. Med. Genet, pp.48-263, 2005. ,
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males, The American Journal of Human Genetics, vol.77, issue.3, p.77, 2005. ,
DOI : 10.1086/444549
Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis, Journal of Histochemistry & Cytochemistry, vol.36, issue.3, pp.53-413, 2005. ,
DOI : 10.1086/379977
Intelligence Scale for Children-Revised (WISC-R), 1974. ,
Splitting and lumping in the nosology of XLMR. American journal of medical genetics, pp.174-182, 2000. ,
The epidemiology of mental retardation: challenges and opportunities in the new millennium. Mental retardation and developmental disabilities research reviews, pp.117-134, 2002. ,
Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology, Am J Ment Retard, vol.92, issue.3, pp.243-254, 1987. ,
Epidemiology of mental retardation???A Swedish survey, Brain and Development, vol.5, issue.5, pp.441-449, 1983. ,
DOI : 10.1016/S0387-7604(83)80072-2
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Current opinion in genetics & development, pp.310-316, 2003. ,
Genetics and pathophysiology of mental retardation, European Journal of Human Genetics, vol.45, issue.Spec No. 1, pp.701-713, 2006. ,
DOI : 10.1016/j.neuron.2005.01.038
X-linked mental retardation Nature reviews Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human mutation, pp.46-57207, 2005. ,
Theory of X-linkage of major intellectual traits American journal of mental deficiency, pp.611-619, 1972. ,
The diagnosis and frequency of Xlinked conditions in a cohort of moderately retarded males with affected brothers. American journal of medical genetics, pp.713-724, 1983. ,
Nonspecific X-linked mental retardation II: the frequency in British Columbia American journal of medical genetics, pp.461-469, 1980. ,
X linked mental retardation: a clinical guide, Journal of Medical Genetics, vol.43, issue.3, pp.193-200, 2006. ,
DOI : 10.1136/jmg.2005.033043
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations, European Journal of Human Genetics, vol.37, issue.9, pp.689-693, 2004. ,
DOI : 10.1136/jmg.37.12.e45
XLMR genes: update 1990 American journal of medical genetics, pp.186-189, 1991. ,
X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Critical reviews in clinical laboratory sciences, pp.117-158, 2004. ,
Association Analysis for MAOA Gene Polymorphism with Long-Latency Auditory Evoked Potentials in Healthy Females, Neuropsychobiology, vol.18, issue.4, pp.288-291, 2004. ,
DOI : 10.1038/sj.mp.4000246
Role of Genotype in the Cycle of Violence in Maltreated Children, Science, vol.297, issue.5582, pp.297851-854, 2002. ,
DOI : 10.1126/science.1072290
X-linked mental retardation, Nature Reviews Genetics, vol.119, issue.1, pp.260-269, 2006. ,
DOI : 10.1002/ajmg.a.20195
URL : https://hal.archives-ouvertes.fr/hal-00187942
The role of neuronal complexes in human X-linked brain diseases American journal of human genetics, pp.205-220, 2007. ,
Pharmacological Rescue of Synaptic Plasticity, Courtship Behavior, and Mushroom Body Defects in a Drosophila Model of Fragile X Syndrome, Neuron, vol.45, issue.5, pp.45753-764, 2005. ,
DOI : 10.1016/j.neuron.2005.01.038
Rousselie F: [Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]. Archives francaises de pediatrie, pp.1103-1120, 1969. ,
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. American journal of medical genetics, pp.461-467, 1989. ,
Aicardi syndrome: Natural history and possible predictors of severity, Pediatric Neurology, vol.11, issue.4, pp.313-318, 1994. ,
DOI : 10.1016/0887-8994(94)90008-6
Van den Veyver IB: Facial and physical features of Aicardi syndrome: infants to teenagers, Am J Med Genet A, vol.138, issue.3, pp.254-258, 2005. ,
Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females, Pediatric Neurology, vol.27, issue.5, pp.343-346, 2002. ,
DOI : 10.1016/S0887-8994(02)00450-2
Aicardi syndrome, Brain and Development, vol.27, issue.3, pp.164-171, 2005. ,
DOI : 10.1016/j.braindev.2003.11.011
Aicardi syndrome--the elusive mild case., British Journal of Ophthalmology, vol.78, issue.6 ,
DOI : 10.1136/bjo.78.6.494
Early treatment of Aicardi syndrome with vigabatrin can improve outcome, Neurology, vol.63, issue.9, pp.1756-1757, 2004. ,
DOI : 10.1212/01.WNL.0000143070.66093.D3
Aicardi syndrome with favorable outcome: Case report and review, Brain and Development, vol.29, issue.7, pp.443-446, 2007. ,
DOI : 10.1016/j.braindev.2006.11.011
Aicardi syndrome: Old and new findings, Int Pediatr, vol.14, pp.5-8, 1999. ,
Syndrome d???Aicardi d?????volution favorable, Aicardi syndrome with favorable outcome, pp.530-532, 2003. ,
DOI : 10.1016/S0929-693X(03)00095-2
Aicardi syndrome: More than meets the eye, Survey of Ophthalmology, vol.37, issue.6, pp.419-424, 1993. ,
DOI : 10.1016/0039-6257(93)90139-X
Cleft lip and palate in Aicardi syndrome American journal of medical genetics, pp.318-319, 1990. ,
The association of cleft lip and palate with Aicardi syndrome. Plastic and reconstructive surgery, pp.595-597, 1994. ,
Aicardi syndrome with multiple tumors: a case report with literature review, Brain and Development, vol.17, issue.4, pp.283-285457, 1995. ,
DOI : 10.1016/0387-7604(95)00045-D
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG, Clinical Dysmorphology, vol.13, issue.4, pp.257-260, 2004. ,
DOI : 10.1097/00019605-200410000-00012
An Atypical Case of Aicardi Syndrome with Favorable Outcome, Korean Journal of Ophthalmology, vol.18, issue.1, pp.79-83, 2004. ,
DOI : 10.3341/kjo.2004.18.1.79
Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? Developmental medicine and child neurology Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. The British journal of ophthalmology, pp.419-420805, 1996. ,
Aicardi syndrome in two sisters. The Journal of pediatrics, pp.282-283, 1989. ,
Three Choroid Plexus Papillomas in a Patient with Aicardi Syndrome, Pediatric Neurosurgery, vol.33, issue.4, pp.219-223, 2000. ,
DOI : 10.1159/000055956
The Aicardi Syndrome in a 47, XXY Male, Journal of Paediatrics and Child Health, vol.26, issue.4, pp.278-280, 1979. ,
DOI : 10.1111/j.1440-1754.1979.tb01246.x
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. Human genetics, pp.3-4459, 1997. ,
Sex chromatin and gene action in the mammalian X-chromosome ,
A quantitative study of certain morphological changes in spinal motor neurons during axon reaction, The Journal of Comparative Neurology, vol.23, issue.2, pp.93-121, 1948. ,
DOI : 10.1113/jphysiol.1898.sp000717
Localization of the X inactivation centre on the human X chromosome in Xq13 Brown SD: XIST and the mapping of the X chromosome inactivation centre Requirement for Xist in X chromosome inactivation, 55. Panning B, Dausman J, Jaenisch R: X chromosome inactivation is mediated by Xist RNA stabilization, pp.353-36382, 1991. ,
Transient Homologous Chromosome Pairing Marks the Onset of X Inactivation, Science, vol.311, issue.5764, pp.3111149-1152, 2006. ,
DOI : 10.1126/science.1122984
Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation, Nature Cell Biology, vol.379, issue.3, pp.293-299, 2006. ,
DOI : 10.1038/379131a0
Counting on Xist, Nature Genetics, vol.4, issue.3, pp.211-212, 1998. ,
DOI : 10.1007/BF00364788
X-linked dominant inherited diseases with lethality in hemizygous males. Human genetics, pp.1-23, 1983. ,
Selection against lethal alleles in females heterozygous for incontinentia pigmenti, American journal of human genetics, vol.44, issue.1, pp.100-106, 1989. ,
X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance, Clinical Genetics, vol.28, issue.3, pp.238-242, 1985. ,
DOI : 10.1111/j.1399-0004.1985.tb00392.x
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. The Journal of pediatrics, pp.911-917, 1990. ,
Positional cloning: Let's not call it reverse anymore, Nature Genetics, vol.88, issue.1, pp.3-6, 1992. ,
DOI : 10.1038/355637a0
A second-generation linkage map of the human genome, Nature, vol.359, issue.6398, pp.359794-801, 1992. ,
DOI : 10.1038/359794a0
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Human genetics Heterogeneity in clinical severity and molecular lesions in Aicardi syndrome, American journal of human genetics, vol.61, issue.66A91, pp.364-368, 1982. ,
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization American journal of medical genetics, pp.182-186, 1990. ,
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? American journal of medical genetics Van den Veyver IB: Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenetic and genome researchX;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3, XX,t( Journal of medical, vol.43, issue.271, pp.839-843289, 1990. ,
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies., Journal of Medical Genetics, vol.27, issue.1, pp.56-58, 1990. ,
DOI : 10.1136/jmg.27.1.56
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. American journal of medical genetics, pp.710-713, 1993. ,
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases, American Journal of Medical Genetics Part A, vol.138, issue.2, pp.190-198, 2005. ,
DOI : 10.1001/archopht.1994.01090180151050
Van Den Veyver IB: Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Human molecular genetics, pp.113237-3248, 2002. ,
Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient American journal of medical genetics DD: Presence of filamin in the astrocytic inclusions of Aicardi syndrome, Pediatric neurology, vol.38, issue.301, pp.65-687, 1991. ,
The Ensembl Automatic Gene Annotation System, Genome Research, vol.14, issue.5, pp.942-950, 2004. ,
DOI : 10.1101/gr.1858004
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia, Nature Genetics, vol.9, issue.7, pp.39836-838, 2007. ,
DOI : 10.1111/j.1600-0560.1982.tb01063.x
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia, Nature Genetics, vol.11, issue.7, pp.39833-835, 2007. ,
DOI : 10.1002/ajmg.10456
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays, Nature Genetics, vol.26, issue.2, pp.207-211, 1998. ,
DOI : 10.1016/0888-7543(95)80092-Z
Comparative genomic hybridization. Annual review of genomics and human genetics, pp.331-354, 2005. ,
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances Journal of medical genetics Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances, Genes, chromosomes & cancer, vol.41, issue.204, pp.198-202399, 1997. ,
Array comparative genomic hybridization and its applications in cancer, Nature Genetics, vol.95, issue.6s, pp.11-17, 2005. ,
DOI : 10.1038/ng1408
Profiling breast cancer by array CGH. Breast cancer research and treatment, pp.289-298, 2003. ,
DOI : 10.1023/a:1023025506386
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome, American Journal of Medical Genetics Part A, vol.58, issue.3, pp.221-226, 2005. ,
DOI : 10.1002/ajmg.a.30991
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Human molecular genetics Chromosome 22 tiling-path array-CGH analysis identifies germ-line-and tumor-specific aberrations in patients with glioblastoma multiforme al: A tiling resolution DNA microarray with complete coverage of the human genome, Genes, chromosomes & cancer Nat Genet, vol.10, issue.363, pp.271-282161, 2001. ,
Genome-wide analysis of DNA copy-number changes using cDNA microarrays, Nat Genet, vol.23, issue.1, pp.41-46, 1999. ,
Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome, The American Journal of Human Genetics, vol.76, issue.5, pp.76750-762, 2005. ,
DOI : 10.1086/429588
High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides, Journal of Clinical Pathology, vol.57, issue.6, pp.644-646, 2004. ,
DOI : 10.1136/jcp.2003.013029
Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors, Proceedings of the National Academy of Sciences, vol.340, issue.26, pp.9912963-12968, 2002. ,
DOI : 10.1042/0264-6021:3400621
High-Resolution Analysis of DNA Copy Number Using Oligonucleotide Microarrays, Genome Research, vol.14, issue.2, pp.287-295, 2004. ,
DOI : 10.1101/gr.2012304
Microarray fabrication with covalent attachment of DNA using Bubble Jet technology, Nature Biotechnology, vol.7, issue.4, pp.438-441, 2000. ,
DOI : 10.1248/cpb.29.1130
Expression profiling using microarrays fabricated by an ink-jet oligonucleotide synthesizer, Nature Biotechnology, vol.24, issue.7, pp.342-347, 2001. ,
DOI : 10.1126/science.278.5338.680
Recent Segmental Duplications in the Human Genome, Science, vol.297, issue.5583, pp.2971003-1007, 2002. ,
DOI : 10.1126/science.1072047
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements, Human Molecular Genetics, vol.12, issue.17, pp.122201-2208, 2003. ,
DOI : 10.1093/hmg/ddg223
Hotspots of mammalian chromosomal evolution, Genome Biology, vol.5, issue.4, p.23, 2004. ,
DOI : 10.1186/gb-2004-5-4-r23
Detection of large-scale variation in the human genome, Nature Genetics, vol.36, issue.9, pp.949-951, 2004. ,
DOI : 10.1038/ng1307
Common deletion polymorphisms in the human genome, Nature Genetics, vol.21, issue.1, pp.86-92, 2006. ,
DOI : 10.1042/bj3000271
Large-Scale Copy Number Polymorphism in the Human Genome, Science, vol.305, issue.5683, pp.305525-528, 2004. ,
DOI : 10.1126/science.1098918
Diagnostic Genome Profiling in Mental Retardation, The American Journal of Human Genetics, vol.77, issue.4, pp.606-616, 2005. ,
DOI : 10.1086/491719
Copy number variation: New insights in genome diversity, Genome Research, vol.16, issue.8, pp.16949-961, 2006. ,
DOI : 10.1101/gr.3677206
Fine-scale structural variation of the human genome, Nature Genetics, vol.5, issue.Suppl, pp.37727-732, 2005. ,
DOI : 10.1097/00008571-199510000-00010
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. Human molecular genetics, pp.2045-2052, 2005. ,
Structural variation of the human genome. Annual review of genomics and human genetics, pp.407-442, 2006. ,
Position effect in human genetic disease. Human molecular genetics, pp.1611-1618, 1998. ,
Positive selection of a gene family during the emergence of humans and African apes, Nature, vol.3, issue.6855, pp.413514-519, 2001. ,
DOI : 10.1016/B978-1-4832-3211-9.50009-7
The Tre2 (USP6) oncogene is a hominoid-specific gene, Proceedings of the National Academy of Sciences, vol.408, issue.6810, pp.2507-2511, 2003. ,
DOI : 10.1038/35042526
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability, Nature Reviews Genetics, vol.39, issue.8, pp.639-646, 2007. ,
DOI : 10.1186/1479-7364-2-6-383
Segmental duplications: an 'expanding' role in genomic instability and disease, Nature Reviews Genetics, vol.67, issue.10, pp.791-800, 2001. ,
DOI : 10.1002/(SICI)1096-8628(19980123)75:3<288::AID-AJMG12>3.0.CO;2-L
Segmental Duplications and Copy-Number Variation in the Human Genome, The American Journal of Human Genetics, vol.77, issue.1, pp.78-88, 2005. ,
DOI : 10.1086/431652
High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization, The American Journal of Human Genetics, vol.76, issue.2, pp.312-326, 2005. ,
DOI : 10.1086/427762
Global variation in copy number in the human genome, Nature, vol.38, issue.7118, pp.444444-454, 2006. ,
DOI : 10.1126/science.1117196
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications, Journal of Medical Genetics, vol.41, issue.3, pp.41175-182, 2004. ,
DOI : 10.1136/jmg.2003.013813
Human genomics: In search of normality, Nature, vol.444, issue.7118, pp.428-429, 2006. ,
DOI : 10.1126/science.1101160
Methods and strategies for analyzing copy number variation using DNA microarrays, Nature Genetics, vol.5, issue.7s, p.16, 2007. ,
DOI : 10.1017/S0001566000006607
Design of Microarray Experiments for Genetical Genomics Studies, Genetics, vol.174, issue.2, pp.945-957, 2006. ,
DOI : 10.1534/genetics.106.057281
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome, Nature Genetics, vol.63, issue.9, pp.955-957, 2004. ,
DOI : 10.1086/302122
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3, Journal of medical genetics, issue.9, pp.41669-678, 2004. ,
Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances. Seminars in pediatric neurology, pp.2-6, 2007. ,
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features, Journal of Medical Genetics, vol.41, issue.4, pp.241-248, 2004. ,
DOI : 10.1136/jmg.2003.017731
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment, Cytogenetic and Genome Research, vol.73, issue.1-2, pp.135-140, 2007. ,
DOI : 10.1086/379977
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes, American Journal of Medical Genetics Part A, vol.75, issue.4, pp.364-369, 2007. ,
DOI : 10.1002/ajmg.a.31572
An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation, American Journal of Medical Genetics Part A, vol.115, issue.8, pp.143824-829, 2007. ,
DOI : 10.1002/ajmg.a.31656
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies Human genetics, 2007. ,
ZNF674: A New Kr??ppel-Associated Box???Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation, The American Journal of Human Genetics, vol.78, issue.2, pp.265-278, 2006. ,
DOI : 10.1086/500306
Molecular Classification of Cancer: Class Discovery and Class Prediction by Gene Expression Monitoring, Science, vol.286, issue.5439, pp.286531-537, 1999. ,
DOI : 10.1126/science.286.5439.531
A Gene-Expression Signature as a Predictor of Survival in Breast Cancer, New England Journal of Medicine, vol.347, issue.25, pp.3471999-2009, 2002. ,
DOI : 10.1056/NEJMoa021967
Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications, Proceedings of the National Academy of Sciences, vol.179, issue.1, pp.9810869-10874, 2001. ,
DOI : 10.1002/(SICI)1096-9896(199605)179:1<31::AID-PATH523>3.0.CO;2-O
Genomic-scale gene expression profiling of normal and malignant immune cells, Current Opinion in Immunology, vol.12, issue.2, pp.219-225, 2000. ,
DOI : 10.1016/S0952-7915(99)00078-3
Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling, Nature, vol.303, issue.6769, pp.403503-511, 2000. ,
DOI : 10.1016/S0076-6879(99)03014-1
Fundamentals of experimental design for cDNA microarrays, Nature Genetics, vol.32, issue.Supp, pp.490-495, 2002. ,
DOI : 10.1038/ng1031
Design issues for cDNA microarray experiments, Nature Reviews Genetics, vol.33, issue.8, pp.579-588, 2002. ,
DOI : 10.1073/pnas.231625398
The effect of replication on gene expression microarray experiments, Bioinformatics, vol.19, issue.13, pp.1620-1627, 2003. ,
DOI : 10.1093/bioinformatics/btg227
Importance of replication in microarray gene expression studies: Statistical methods and evidence from repetitive cDNA hybridizations, Proceedings of the National Academy of Sciences, vol.95, issue.25, pp.979834-9839, 2000. ,
DOI : 10.1073/pnas.95.25.14863
Microarray data analysis: from disarray to consolidation and consensus, Nature Reviews Genetics, vol.12, issue.Suppl. 2, pp.55-65, 2006. ,
DOI : 10.1089/cmb.2005.12.482
Fundamentals of cDNA microarray data analysis, Trends in Genetics, vol.19, issue.11, pp.649-659, 2003. ,
DOI : 10.1016/j.tig.2003.09.015
Questions and Answers on Design of Dual-Label Microarrays for Identifying Differentially Expressed Genes, JNCI Journal of the National Cancer Institute, vol.94, issue.13, pp.951362-1369, 2003. ,
DOI : 10.1093/jnci/94.13.990
Interpretation, design, and analysis of gene array expression experiments. The journals of gerontology, pp.52-57, 2001. ,
A Bayesian framework for the analysis of microarray expression data: regularized t -test and statistical inferences of gene changes, Bioinformatics, vol.17, issue.6, pp.509-519, 2001. ,
DOI : 10.1093/bioinformatics/17.6.509
Analysis of Variance for Gene Expression Microarray Data, Journal of Computational Biology, vol.7, issue.6, pp.819-837, 2000. ,
DOI : 10.1089/10665270050514954
Noise sampling method: an ANOVA approach allowing robust selection of differentially regulated genes measured by DNA microarrays, Bioinformatics, vol.19, issue.11, pp.191348-1359, 2003. ,
DOI : 10.1093/bioinformatics/btg165
A comparison of oligonucleotide and cDNA-based microarray systems, Physiological Genomics, vol.16, issue.3, pp.361-370, 2004. ,
DOI : 10.1093/nar/30.10.e48
Comparison and meta-analysis of microarray data: from the bench to the computer desk, Trends in Genetics, vol.19, issue.10, pp.570-577, 2003. ,
DOI : 10.1016/j.tig.2003.08.006
Reliability and reproducibility issues in DNA microarray measurements, Trends in Genetics, vol.22, issue.2, pp.101-109, 2006. ,
DOI : 10.1016/j.tig.2005.12.005
Gene-microarray analysis of multiple sclerosis lesions yields new targets validated in autoimmune encephalomyelitis, Nature Medicine, vol.158, issue.5, pp.500-508, 2002. ,
DOI : 10.1126/science.1325670
Delineation of prognostic biomarkers in prostate cancer, Nature, vol.6, issue.6849, pp.412822-826, 2001. ,
DOI : 10.1002/pros.2990110405
Gene expression profiling predicts clinical outcome of breast cancer, Nature, issue.6871, pp.415530-536, 2002. ,
Molecular classification of cutaneous malignant melanoma by gene expression profiling, Nature, issue.6795, pp.406536-540, 2000. ,
Expression Profiling of Renal Epithelial Neoplasms, The American Journal of Pathology, vol.158, issue.5, pp.1639-1651, 2001. ,
DOI : 10.1016/S0002-9440(10)64120-X
Technology Insight: tuning into the genetic orchestra using microarrays--limitations of DNA microarrays in clinical practice. Nature clinical practice, pp.501-516, 2006. ,
Design of studies using DNA microarrays, Genetic Epidemiology, vol.8, issue.1, pp.21-36, 2002. ,
DOI : 10.1089/106652701753307520
The Effect of Combinations of Flurbiprofen, Low Molecular Weight Heparin, and Doxycycline on the Inhibition of Corneal Neovascularization, Cornea, vol.25, issue.5, pp.582-585, 2006. ,
DOI : 10.1097/01.ico.0000220767.73660.3a
GENOMICS: Microarrays--Guilt by Association, Science, vol.302, issue.5643, pp.240-241, 2003. ,
DOI : 10.1126/science.1090887
A graph-theoretic approach to testing associations between disparate sources of functional genomics data, Bioinformatics, vol.20, issue.18, pp.3353-3362, 2004. ,
DOI : 10.1093/bioinformatics/bth405
Disease gene discovery through integrative genomics. Annual review of genomics and human genetics, pp.381-406, 2005. ,
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics, Proceedings of the National Academy of Sciences, vol.14, issue.16, pp.605-610, 2003. ,
DOI : 10.1046/j.1432-1327.1998.2550156.x
Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics, Proceedings of the National Academy of Sciences, vol.173, issue.2, pp.1044530-4535, 2007. ,
DOI : 10.1534/genetics.106.057455
The GenBank genetic sequence databank. Nucleic acids research, pp.1-4, 1986. ,
The EMBL data library. Nucleic acids research, pp.5-9, 1986. ,
The protein identification resource (PIR) Nucleic acids research, pp.11-15, 1986. ,
The Molecular Biology Database Collection: 2007 update. Nucleic acids research, pp.3-4, 2007. ,
Entrez Gene: gene-centered information at NCBI. Nucleic acids research, pp.26-31, 2007. ,
MGD: the Mouse Genome Database, Nucleic Acids Research, vol.31, issue.1, pp.562-567, 2006. ,
DOI : 10.1093/nar/gkg047
The Zebrafish Information Network: the zebrafish model organism database, Nucleic Acids Research, vol.34, issue.90001, pp.34-581, 2006. ,
DOI : 10.1093/nar/gkj086
Genome Snapshot: a new resource at the Saccharomyces Genome Database (SGD) presenting an overview of the Saccharomyces cerevisiae genome, Nucleic Acids Research, vol.34, issue.90001, pp.34-442, 2006. ,
DOI : 10.1093/nar/gkj117
The COG database: an updated version includes eukaryotes, BMC Bioinformatics, vol.4, issue.1, p.41, 2003. ,
DOI : 10.1186/1471-2105-4-41
FlyBase: genomes by the dozen. Nucleic acids research, pp.486-491, 2007. ,
Mendelian Inheritance in Man and its online version, OMIM. American journal of human genetics, pp.588-604, 2007. ,
Microarray databases: standards and ontologies, Nature Genetics, vol.32, issue.Supp, pp.469-473, 2002. ,
DOI : 10.1038/ng1028
Gene Ontology: tool for the unification of biology, Nature Genetics, vol.9, issue.1, pp.25-29, 2000. ,
DOI : 10.1091/mbc.9.12.3273
The Gene Ontology Annotation (GOA) Database--an integrated resource of GO annotations to the UniProt Knowledgebase, silico biology, pp.5-6, 2004. ,
Ontological analysis of gene expression data: current tools, limitations, and open problems, Bioinformatics, vol.5, issue.4, pp.3587-3595, 2005. ,
DOI : 10.1186/1471-2105-5-16
THEA: ontology-driven analysis of microarray data, Bioinformatics, vol.20, issue.16, pp.2636-2643, 2004. ,
DOI : 10.1093/bioinformatics/bth295
URL : https://hal.archives-ouvertes.fr/hal-00170450
GoMiner: a resource for biological interpretation of genomic and proteomic data, Genome Biology, vol.4, issue.4, p.28, 2003. ,
DOI : 10.1186/gb-2003-4-4-r28
High-Throughput GoMiner, an 'industrialstrength' integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID), BMC Bioinformatics, vol.6, issue.1, p.168, 2005. ,
DOI : 10.1186/1471-2105-6-168
Onto-Tools, the toolkit of the modern biologist: Onto-Express, Onto-Compare, Onto-Design and Onto-Translate, Nucleic Acids Research, vol.31, issue.13, pp.313775-3781, 2003. ,
DOI : 10.1093/nar/gkg624
FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes, Bioinformatics, vol.20, issue.4, pp.578-580, 2004. ,
DOI : 10.1093/bioinformatics/btg455
A point mutation of the rhodopsin gene in one form of retinitis
pigmentosa, Nature, vol.343, issue.6256, pp.343364-366, 1990. ,
DOI : 10.1038/343364a0
Human disease genes, Nature, vol.56, issue.6822, pp.853-855, 2001. ,
DOI : 10.1002/ajmg.1320560404
Highly consistent patterns for inherited human diseases at the molecular level, Bioinformatics, vol.3, issue.Suppl. 2, pp.269-277, 2006. ,
DOI : 10.1186/jbiol16
Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic acids research, pp.3108-3114, 2004. ,
Speeding disease gene discovery by sequence based candidate prioritization, BMC Bioinformatics, vol.6, issue.1, p.55, 2005. ,
DOI : 10.1186/1471-2105-6-55
Further understanding human disease genes by comparing with housekeeping genes and other genes, BMC Genomics, vol.7, issue.1, p.31, 2006. ,
DOI : 10.1186/1471-2164-7-31
Discovering disease-genes by topological features in human protein???protein interaction network, Bioinformatics, vol.23, issue.22, pp.2800-2805, 2006. ,
DOI : 10.1007/s00246-001-0097-9
Predicting disease genes using protein-protein interactions, Journal of Medical Genetics, vol.43, issue.8, pp.691-698, 2006. ,
DOI : 10.1136/jmg.2006.041376
A partially supervised classification approach to dominant and recessive human disease gene prediction. Computer methods and programs in biomedicine, pp.229-237, 2007. ,
Monogenic causes of X-linked mental retardation, Nature Reviews Genetics, vol.21, issue.9, pp.669-680, 2001. ,
DOI : 10.1016/S0896-6273(00)80651-0
A similarity-based method for genome-wide prediction of disease-relevant human genes, Bioinformatics, vol.18, issue.Suppl 2, pp.110-115, 2002. ,
DOI : 10.1093/bioinformatics/18.suppl_2.S110
POCUS: mining genomic sequence annotation to predict disease genes, Genome Biology, vol.4, issue.11, p.75, 2003. ,
DOI : 10.1186/gb-2003-4-11-r75
Association of genes to genetically inherited diseases using data mining, Nature Genetics, vol.25, issue.3, pp.316-319, 2002. ,
DOI : 10.1093/nar/25.17.3389
G2D: a tool for mining genes associated with disease, BMC Genetics, vol.6, issue.1, p.45, 2005. ,
DOI : 10.1186/1471-2156-6-45
Genome Function INtegrated Discoverer through dynamic annotation, statistical analysis, and mining. Nucleic acids research, pp.293-300, 2004. ,
GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists. Nucleic acids research, pp.717-723, 2005. ,
SUSPECTS: enabling fast and effective prioritization of positional candidates, Bioinformatics, vol.11, issue.1, pp.773-774, 2006. ,
DOI : 10.1038/sj.ejhg.5200918
TOM: a web-based integrated approach for identification of candidate disease genes, Nucleic Acids Research, vol.34, issue.Web Server, pp.285-292, 2006. ,
DOI : 10.1093/nar/gkl340
Gene prioritization through genomic data fusion, Nature Biotechnology, vol.352, issue.Suppl 2, pp.537-544, 2006. ,
DOI : 10.1056/NEJMoa042765
Analysis of protein sequence and interaction data for candidate disease gene prediction, Nucleic Acids Research, vol.16, issue.19, pp.34-130, 2006. ,
DOI : 10.1101/gr.4526006
GeneLibrarian: an effective geneinformation summarization and visualization system, BMC Bioinformatics, vol.7, issue.1, p.392, 2006. ,
DOI : 10.1186/1471-2105-7-392
GENOMIZER: an integrated analysis system for genome-wide association data, Human Mutation, vol.76, issue.6, pp.27583-588, 2006. ,
DOI : 10.1002/humu.20306
GOFFA: Gene Ontology For Functional Analysis ??? A FDA Gene Ontology Tool for Analysis of Genomic and Proteomic Data, BMC Bioinformatics, vol.7, issue.Suppl 2, p.23, 2006. ,
DOI : 10.1186/1471-2105-7-S2-S23
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases, Nucleic Acids Research, vol.33, issue.Web Server, pp.758-761, 2005. ,
DOI : 10.1093/nar/gki435
Exploring relationships and mining data with the UCSC Gene Sorter, Genome Research, vol.15, issue.5, pp.737-741, 2005. ,
DOI : 10.1101/gr.3694705
Integration of text-and data-mining using ontologies successfully selects disease gene candidates. Nucleic acids research, pp.1544-1552, 2005. ,
Cartographie physique du chromosome X humain. Nancy: Institut National Polytechnique de Lorraine, 1994. ,
Stabilization of mRNA expression in whole blood samples, Clinical chemistry, issue.11, pp.481883-1890, 2002. ,
Optimization of the PAXgene??? blood RNA extraction system for gene expression analysis of clinical samples, Journal of Clinical Laboratory Analysis, vol.48, issue.5, pp.182-188, 2005. ,
DOI : 10.1002/jcla.20075
X chromosome array-CGH for the identification of novel X-linked mental retardation genes. European journal of medical genetics, pp.263-275, 2005. ,
Statistical issues with microarrays: processing and analysis, Trends in Genetics, vol.18, issue.5, pp.265-271, 2002. ,
DOI : 10.1016/S0168-9525(02)02665-3
Tutorial section: There is no silver bullet -- a guide to low-level data transforms and normalisation methods for microarray data, Briefings in Bioinformatics, vol.6, issue.1, pp.86-97, 2005. ,
DOI : 10.1093/bib/6.1.86
Microarray data normalization and transformation, Nature Genetics, vol.32, issue.Supp, pp.496-501, 2002. ,
DOI : 10.1038/ng1032
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgenreceptor gene correlates with X chromosome inactivation, American journal of human genetics, issue.6, pp.511229-1239, 1992. ,
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenetic and genome research, pp.3-4205, 2006. ,
Genetic analysis of genome-wide variation in human gene expression, Nature, vol.2, issue.7001, pp.430743-747, 2004. ,
DOI : 10.1159/000072312
The limit fold change model: a practical approach for selecting differentially expressed genes from microarray data, BMC Bioinformatics, vol.3, issue.1, p.17, 2002. ,
DOI : 10.1186/1471-2105-3-17
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits, Epilepsia, vol.42, issue.12, pp.441529-1535, 2003. ,
DOI : 10.1038/sj.ejhg.5200402
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy, Journal of Medical Genetics, vol.41, issue.3, pp.41183-186, 2004. ,
DOI : 10.1136/jmg.2003.013680
GOToolBox: functional analysis of gene datasets based on Gene Ontology, Genome Biology, vol.5, issue.12, p.101, 2004. ,
DOI : 10.1186/gb-2004-5-12-r101
URL : https://hal.archives-ouvertes.fr/inserm-00095249
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses, Am J Med Genet A, issue.16, pp.1431912-1918, 2007. ,
The C20orf133 gene is disrupted in a patient with Kabuki syndrome, Journal of medical genetics, 2007. ,
Partial duplications of the ATRX gene cause the ATR-X syndrome, European Journal of Human Genetics, vol.51, issue.10, 2007. ,
DOI : 10.1159/000094223
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes Human mutation, 2007. ,
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients, European Heart Journal, vol.28, issue.22, 2007. ,
DOI : 10.1093/eurheartj/ehl560
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism, European Journal of Human Genetics, vol.54, issue.4, pp.422-431, 2007. ,
DOI : 10.1002/ajmg.c.30078
Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status, Genes, Chromosomes and Cancer, vol.53, issue.3, pp.261-276, 2007. ,
DOI : 10.1016/S0002-9440(10)64623-8
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation, The American Journal of Human Genetics, vol.79, issue.3, pp.79500-513, 2006. ,
DOI : 10.1086/507471
Guidelines for molecular karyotyping in constitutional genetic diagnosis, European Journal of Human Genetics, vol.17, issue.11, 2007. ,
DOI : 10.1111/j.1399-0004.2007.00756.x
Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis, Journal of Histochemistry & Cytochemistry, vol.36, issue.3, pp.413-422, 2005. ,
DOI : 10.1086/379977
DNA duplication associated with Charcot-Marie-Tooth disease type 1A, Cell, vol.66, issue.2, pp.219-232, 1991. ,
DOI : 10.1016/0092-8674(91)90613-4
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports, Journal of Medical Genetics, vol.43, issue.8, pp.43625-633, 2006. ,
DOI : 10.1136/jmg.2005.039453
Identification of disease genes by whole genome CGH arrays. Human molecular genetics, pp.215-223, 2005. ,
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH, Journal of Medical Genetics, vol.43, issue.4, pp.362-370, 2006. ,
DOI : 10.1136/jmg.2005.036178
Nonsyndromic X-linked mental retardation: where are the missing mutations?, Trends in Genetics, vol.19, issue.6, pp.316-320, 2003. ,
DOI : 10.1016/S0168-9525(03)00113-6
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation, Journal of Medical Genetics, vol.41, issue.6, pp.41425-432, 2004. ,
DOI : 10.1136/jmg.2004.018531
Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH. European journal of medical genetics, 2007. ,
Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement, The American Journal of Human Genetics, vol.80, issue.4, pp.751-758, 2007. ,
DOI : 10.1086/513321
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females, Human Molecular Genetics, vol.10, issue.17, pp.101775-1783, 2001. ,
DOI : 10.1093/hmg/10.17.1775
Blood Gene Expression Profiling of Neurologic Diseases, Archives of Neurology, vol.62, issue.2, pp.210-215, 2005. ,
DOI : 10.1001/archneur.62.2.210
Genomic Abnormalities in Patients With Migraine and Chronic Migraine: Preliminary Blood Gene Expression Suggests Platelet Abnormalities, Headache: The Journal of Head and Face Pain, vol.54, issue.2, pp.44994-1004, 2004. ,
DOI : 10.1016/S0140-6736(96)90669-8
Using Peripheral Blood Mononuclear Cells to Determine a Gene Expression Profile of Acute Ischemic Stroke: A Pilot Investigation, Circulation, vol.111, issue.2, pp.212-221, 2005. ,
DOI : 10.1161/01.CIR.0000152105.79665.C6
Blood transcriptional signatures of multiple sclerosis: Unique gene expression of disease activity, Annals of Neurology, vol.21, issue.3, pp.410-417, 2004. ,
DOI : 10.4049/jimmunol.168.6.2618
The Future of Genomic Profiling of Neurological Diseases Using Blood, Archives of Neurology, vol.63, issue.11, pp.631529-1536, 2006. ,
DOI : 10.1001/archneur.63.11.1529
Transcriptional analysis of targets in multiple sclerosis, Nature Reviews Immunology, vol.3, issue.6, pp.483-492, 2003. ,
DOI : 10.1038/nri1108
Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease, Proceedings of the National Academy of Sciences, vol.22, issue.8, pp.10211023-11028, 2005. ,
DOI : 10.1016/j.tibtech.2004.06.005
Individuality and variation in gene expression patterns in human blood, Proceedings of the National Academy of Sciences, vol.18, issue.2, pp.1896-1901, 2003. ,
DOI : 10.1038/ng0298-91
Abnormal melatonin synthesis in autism spectrum disorders, Molecular Psychiatry, vol.280, issue.1, 2007. ,
DOI : 10.1002/mrdd.20023
URL : https://hal.archives-ouvertes.fr/inserm-00166901
Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1, Molecular Brain Research, vol.132, issue.2, pp.155-167, 2004. ,
DOI : 10.1016/j.molbrainres.2003.10.014
Extensive and divergent circadian gene expression in liver and heart, Nature, vol.107, issue.6884, pp.41778-83, 2002. ,
DOI : 10.1016/S0092-8674(01)00545-1
Coordinated Transcription of Key Pathways in the Mouse by the Circadian Clock, Cell, vol.109, issue.3, pp.307-320, 2002. ,
DOI : 10.1016/S0092-8674(02)00722-5
Correlation of transcriptome profile with electrical activity in temporal lobe epilepsy, Neurobiology of Disease, vol.22, issue.2, pp.374-387, 2006. ,
DOI : 10.1016/j.nbd.2005.12.012
Association of valproate-induced teratogenesis with histone deacetylase inhibition in vivo, The FASEB Journal, vol.19, issue.9, pp.1166-1168, 2005. ,
DOI : 10.1096/fj.04-3425fje
Valproate induces widespread epigenetic reprogramming which involves demethylation of specific genes, Carcinogenesis, vol.104, issue.3, pp.560-571, 2007. ,
DOI : 10.1016/S0092-8674(01)00196-9
des Portes V: [Update on the genetics of X-linked mental retardation]. Revue neurologique, pp.952-963, 2006. ,
Human diseases with underlying defects in chromatin structure and modification. Human molecular genetics, pp.2233-2242, 2001. ,
Update of the G2D tool for prioritization of gene candidates to inherited diseases. Nucleic acids research, pp.212-216, 2007. ,
Les articles sont présentés dans la session résultats de ce manuscrit, Liste des publications Les travaux de thèse ont fait l'objet des deux publications ci?dessous Screening of subtle copy number changes in Aicardi Syndrome Patients with a high resolution X?chromosome array?CGH ,
A Database Approach for Candidate Gene Retrieval based on semantic Data Integration and Expert View Definition ,
Van den Veyver, Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome, J. Med. Genet, pp.42-57, 2005. ,
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients, Human Genetics, vol.108, issue.1, pp.43-50, 2001. ,
DOI : 10.1007/s004390000422
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications, Mol. Diagn, vol.7, pp.3-7, 2003. ,
Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments, Human Mutation, vol.33, issue.3, pp.218-226, 2002. ,
DOI : 10.1136/jmg.33.7.550
Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2, Mammalian Genome, vol.12, issue.7, pp.533-535, 1996. ,
DOI : 10.1038/ng0296-205
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls, European Journal of Human Genetics, vol.65, issue.1, pp.13-124, 2005. ,
DOI : 10.1086/302690
An update on clinically applicable diagnostic criteria in Rett syndrome, European Journal of Paediatric Neurology, vol.6, issue.5, pp.293-297, 2001. ,
DOI : 10.1053/ejpn.2002.0612
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment, Human Genetics, vol.86, issue.5, pp.425-441, 1991. ,
DOI : 10.1007/BF00194629
The major form of MeCP2 has a novel N-terminus generated by alternative splicing, Nucleic Acids Research, vol.32, issue.5, pp.1818-1823, 2004. ,
DOI : 10.1093/nar/gkh349
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2, Human Mutation, vol.17, issue.2, pp.107-115, 2003. ,
DOI : 10.1177/088307380201700105
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome, Nat. Genet, pp.36-339, 2004. ,
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update, European Journal of Medical Genetics, vol.49, issue.1 ,
DOI : 10.1016/j.ejmg.2005.04.003
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome, Clin. Genet, vol.67, pp.532-533, 2005. ,
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions, Mammalian Genome, vol.11, issue.3, pp.182-190, 2000. ,
DOI : 10.1007/s003350010035
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2, Journal of Medical Genetics, vol.43, issue.6, 2005. ,
DOI : 10.1136/jmg.2005.036244
Rett syndrome: clinical review and genetic update, Journal of Medical Genetics, vol.42, issue.1, pp.42-43, 2005. ,
DOI : 10.1136/jmg.2004.027730
Screening of subtle copy number changes in Aicardi Syndrome Patients with a high resolution X?chromosome array?CGH European Human genetics conference, 2007. ,
Assises de génétique humaine et médicale, Médecine Sciences, pp.22-124, 2006. ,
Gene signature symposium, Applied Biosystem, vol.27, 2005. ,
Journée de recherche clinique du CHU de Nancy, 2005. ,