859 results on '"Sanlaville, Damien"'
Search Results
2. Creatinine levels in French children with Down syndrome up to ten years old
3. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
4. Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure
5. Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A
6. Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
7. Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
9. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication
10. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
11. Neurocognitive evaluation of children with down syndrome and obstructive sleep apnea syndrome
12. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
13. Fertility in men with Klinefelter's syndrome
14. Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
15. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
16. CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period
17. Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
18. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
19. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
20. Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia
21. Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study
22. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome
23. Les enjeux de la génétique en psychiatrie
24. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency
25. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
26. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
27. Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
28. A 14q distal chromoanagenesis elucidated by whole genome sequencing
29. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
30. Molecular and Phenotypic Characterization of the RORB-Related Disorder
31. GRM7-related disorder: Five additional patients from three independent families and review of the literature
32. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
33. GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
34. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
35. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
36. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
37. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
38. Additive Effect of Variably Penetrant 22Q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
39. The contribution of genomics in the medicine of tomorrow, clinical applications and issues
40. Apport de la génomique dans la médecine de demain, applications cliniques et enjeux
41. Whole F8gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A
42. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
43. Molecular and Phenotypic Characterization of the RORB-Related Disorder.
44. Transposable element expression with variation in sex chromosome number supports a toxic Y effect on human longevity
45. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
46. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
47. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
48. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
49. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
50. Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
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