244 results on '"Colleaux, L."'
Search Results
2. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
3. Recognition and Cleavage Site of the Intron-Encoded omega Transposase
4. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
5. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
6. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
7. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation
8. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
9. La CGH microarray : principe et applications en pathologie constitutionnelle
10. Use of interspersed repetitive sequences-PCR products for cDNA selection
11. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
12. Generation and characterization of an ordered lambda clone array for the 460-kb region surrounding the murine Xist sequence
13. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?
14. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
15. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
16. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
17. Spectrum of NSD1 mutations in Sotos and Weaver syndromes
18. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
19. Complete DNA sequence of yeast chromosome XI
20. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
21. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
22. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
23. A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
24. Mitochondrial Introns as Mobile Genetic Elements: the Role of Intron-Encoded Proteins
25. Deletion of the SIM1 gene (6q 16.2) in a patient with a Prader-Willi-like phenotype. (Letter to JMG)
26. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
27. Screening cryptic telomeric rearrangements in children with idiopathic mental retardation using an automated fluorescent genotyping strategy
28. Homozygosity mapping of three idiopathic mental retardation loci: toward identification of the first autosomal recessive isolated mental retardation gene
29. Exclusion of nine candidate genes for their involvment in X-linked FG syndrome (FGS1) In three families
30. Relationship between clinical phenotype, residual OTC activity and pattern of liver X inactivation in symptomatic OTC-deficient females
31. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
32. The Yeast Genome Directory
33. A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency
34. Extracellular proteases and their inhibitors in genetic diseases of the central nervous system
35. MED23 Mediator subunit mutation links intellectual disability to dysregulation of immediate early gene expression
36. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
37. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families
38. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
39. Technical comment: Response to comment on 'Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila'
40. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
41. A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
42. A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
43. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
44. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
45. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
46. Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts
47. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
48. Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation
49. Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system
50. Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
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