Search

Your search keyword '"Sangermano, R"' showing total 43 results

Search Constraints

Start Over You searched for: Author "Sangermano, R" Remove constraint Author: "Sangermano, R"
43 results on '"Sangermano, R"'

Search Results

1. In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

2. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

3. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

4. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

5. Unraveling the missing heritability in ABCA4-associated Stargardt disease

7. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

8. Unraveling the missing heritability in ABCA4-associated Stargardt disease

10. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

11. The treatment of black stain associated with of iron metabolism disorders with lactoferrin: a litterature search and two case studies.

12. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T-->C Mutation in Stargardt Disease

13. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

14. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

15. Autosomal dominant Ménétrier-like disease.

17. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

18. Autosomal dominant Ménétrier-like disease

19. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

20. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

21. Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.

22. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

23. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

24. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

25. Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

26. Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.

27. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

28. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

29. Lactoferrin and oral pathologies: a therapeutic treatment.

30. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

31. In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

32. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

33. The treatment of black stain associated with of iron metabolism disorders with lactoferrin: a litterature search and two case studies.

34. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

35. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

36. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

37. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

38. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

39. MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

40. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

41. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

42. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.

Catalog

Books, media, physical & digital resources