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1. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

2. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

3. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

5. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

6. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

7. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

8. Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

9. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

10. Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities

11. O06 Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic PIK3R1 mutations

12. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

14. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

15. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

16. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

17. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

18. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

19. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

20. Spectre clinique et mutationnel des malformations vasculaires cutanées hypertrophiques associées aux variants de PIK3R1

21. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

22. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

23. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

24. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

25. TELO2 ‐related syndrome ( You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

26. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

27. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

28. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

29. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

30. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

31. Double inversion paracentrique parentale du même bras chromosomique à l’origine de chromosomes recombinants monocentriques atypiques : apport de la cartographie optique

32. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

33. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

34. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

35. A standard of care for individuals with PIK3CA-related disorders:An international expert consensus statement

36. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

37. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

38. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

39. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

40. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

41. A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis

43. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

44. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

45. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

46. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

47. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

48. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

49. A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

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