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Publikationen

Es gibt einige wenige Artikel,
welche die letzten Jahre das Thema aus dermatologischer, genetischer und ophthalmologischer dargestellt haben.
Ich habe in untenstehender Auflistung, die mir bekannten zusammengefasst.

- Download als PDF File -

  1. Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions (2022)
  2. Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation (2022)
  3. Cold Spring Harb Mol Case Stud (2022)
  4. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy in China (2022)
    Genetic overview
  5. The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan_ a case report (2022)
  6. Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report (2021)
  7. Klinischer Report aus Japan eines Geschwisterpaares (2021)
  8. Fallbeschreibung aus Saudi Arabien (2020)
  9. Genetic Hair Disorders: A Review (2019)
  10. Fallbeschreibung aus Saudi Arabien eines 6jährigen Mädchens (2019)
  11. Fallbeschreibung aus Tübingen, Dr.Nasser - über eine Geschwisterpaar aus Deutschland (2020)
  12. Fallbeschreibung HJMD aus Portugal (2019)
  13. Fallbeschreibung aus Brasilien / Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome (2019)
  14. Fallbeschreibung M.Moosajee / Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy (2019)
  15. Fallbeschreibung aus Danmark (1995)
  16. Saeidian_et_al-2019-Molecular_Genetics_&_Genomic_Med0000icine (2019)
  17. Mutation analysis of causative genes in a case of congenital hypotrichosis (2017)
  18. A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia (2019)
  19. E- and P-cadherin expression during murine
    hair follicle morphogenesis and Cycling (1999)
  20. A novel splice-site mutation in the CDH3 gene in hypotrichosis with
    juvenile macular dystrophy (2008)
  21. Hypotrichosis with cone-rod dystrophy in a patient
    with cadherin 3 (CDH3) Mutation (2019)
  22. Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy (2009)
  23. Fallbeschreibung aus Portugal - Patientin persönlich bekannt und Kontakt besteht (2018)
  24. Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report (2018)
  25. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy (2012)
  26. Fallbeschreibung aus dem Iran über 3 betroffene Familienmitglieder (2017)
  27. Cadherins in the retinal pigment epithelium (2018)
  28. ausführliche Thesis aus England zur HJMD (2016)
  29. Ein Fallbericht aus der Türkei eines 13 jährigen Mädchens (2017)
  30. HJMD: ein Fallbericht mit molekularer Studie aus Brasilien (2017)
  31. Spanischer Patient (2017) New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
  32. novel_homozygous_sequence_variants_in_the_cdh3_
    gene_encoding_p_cadherin_underlying_hypotrichosis_with_juvenile_macular_dystrophy (2016)
  33. CharacterizationofCDH3-RelatedCongenitalHypotrichosis WithJuvenileMacularDystrophy (2016)
  34. Hypotrichosis and juvenile macular  dystrophy caused by  CDH3 mutation: A candidate disease for  retinal gene therapy (2016)
  35. Hypotrichosis with juvenile macular dystrophy: Portuguese case (2016)
  36. Thesis von 2012 mit dem Thema:  Identification of Genes Involved in Human  Hereditary Skin Disorder
    - Auszug zur HJMD -
  37. CDH3 -Related Syndromes 2011:  Report on a New Mutation and Overview of  the Genotype-Phenotype Correlations
  38. The EEM syndrome (2007),  a ten year follow-up of two new patients
  39. Review on CDH3 (2014),  with data on DNA/RNA, on the  protein encoded and where the gene is implicated.
  40. Grand Rounds (2012)  issue presents several interesting genetics cases.
  41. P-Cadherin Regulates Human Hair Growth (2012)  and Cycling via Canonical Wnt Signaling and  Transforming Growth Factor-b2
  42. P-cadherin is a p63 target gene (2012) with a crucial role in the  developing human limb bud and hair follicle
  43. EXPRESSION KLASSISCHER CADHERINE UND !-PROTOCADHERINE  IN DER SICH ENTWICKELNDEN RETINA DES FRETTCHENS (2010)
  44. Focus on Macular Degeneration Research (2004)
  45. Miscellaneous Rare Macular Dystrophies (2016)
  46. Unusual association of juvenile macular dystrophy  with congenital hypotrichosis (2009)
  47. A CASE OF HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY (2015)
  48. Phenotypic observations in hypotrichosis with juvenile macular dystrophy recessive CDH3 mutations (2016)
  49. Hypotrichosis with juvenile macular dystrophy is caused by  a mutation in CDH3, encoding P-cadherin (2001)
  50. Phenotypic Diversity and Mutation Spectrum (2003) in Hypotrichosis  with Juvenile Macular Dystrophy

    über: PTC124/Ataluren/Translarna
    Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

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