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46 results on '"Quenez, O."'

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1. New insights into the genetic etiology of Alzheimer's disease and related dementias

2. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

3. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

5. New insights into the genetic etiology of Alzheimer's disease and related dementias

6. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

7. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

8. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

9. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

10. Development of genomic resources for the tick Ixodes ricinus: isolation and characterization of single nucleotide polymorphisms.

11. Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

12. Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

13. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

14. High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

15. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

16. Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

17. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

18. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

19. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

20. uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

21. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

22. Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.

23. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

24. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

25. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

26. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.

27. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

28. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.

29. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

30. Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

31. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

32. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

33. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

34. Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.

35. Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

36. Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.

37. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

38. Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

39. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

40. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

41. Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

42. Brain calcifications and PCDH12 variants.

43. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.

44. ABCA7 rare variants and Alzheimer disease risk.

45. Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

46. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

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