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1. GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

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

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

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

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

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

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

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

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

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

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

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

14. Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage

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

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

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

21. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

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

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

24. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

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

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

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

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

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

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

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

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

33. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

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

35. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

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

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

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

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

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

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

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

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

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

45. 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

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

47. 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

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

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

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

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