29 June 2012

Aarskog syndrome



Aarskog syndrome or Aarskog–Scott syndrome

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.

65 published articles are available on the subject

  1. Familial syndrome resembling Aarskog syndrome.
  2. Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report.
  3. Aarskog syndrome: a case report and literature review.
  4. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
  5. Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data.
  6. Orthodontic treatment of a case of Aarskog syndrome.
  7. Aarskog syndrome.
  8. Aarskog syndrome.
  9. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
  10. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).
  11. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.
  12. Prenatal sonographic diagnosis of Aarskog syndrome.
  13. Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.
  14. The effect of growth hormone treatment on stature in Aarskog syndrome.
  15. Brief report: autism and Aarskog syndrome.
  16. Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.
  17. Intelligence and development in Aarskog syndrome.
  18. Aarskog syndrome associated with hypermetropia and toe anomaly.
  19. Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
  20. Velo-facio-skeletal syndrome versus Aarskog syndrome.
  21. An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome.
  22. Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males.
  23. Aarskog syndrome. A case report.
  24. Congenital heart defects in Aarskog syndrome.
  25. Umbilical findings in Aarskog syndrome.
  26. Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
  27. Megadolichosigmoid in a young male with Aarskog syndrome.
  28. The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
  29. Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
  30. Aarskog syndrome: report of a family with review and discussion of nosology.
  31. Dolichomegasigmoid in Aarskog syndrome.
  32. Aarskog syndrome in association with mental and psychological retardation, grand mal epilepsy and tardive dyskinesia and apparent radicular paralysis of the fibular nerve in torsion scoliosis.
  33. The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
  34. Aarskog syndrome in a Brazilian boy born to consanguineous parents.
  35. Atypical case of Aarskog syndrome.
  36. Aarskog syndrome: the changing phenotype with age.
  37. Aarskog syndrome.
  38. Aarskog syndrome. A case report.
  39. Aarskog syndrome in Hungary.
  40. Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics.
  41. Aarskog syndrome.
  42. Aarskog syndrome. Description of a case with significant anomalies of the gonads.
  43. Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
  44. Anomalous cerebral venous drainage in Aarskog syndrome.
  45. Metatarsus adductus in two brothers with Aarskog syndrome.
  46. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance.
  47. Aarskog syndrome.
  48. Autosomal dominant inheritance of the Aarskog syndrome.
  49. A case of Aarskog syndrome with a review of Japanese literature.
  50. Aarskog syndrome with isolated growth hormone deficiency.
  51. Aarskog syndrome (author's transl).
  52. The Aarskog syndrome.
  53. The Aarskog syndrome. Description of a case and review of the literature.
  54. The Aarskog syndrome.
  55. Dental findings in patients with Aarskog syndrome.
  56. Aarskog syndrome: significance for the surgeon.
  57. Aarskog syndrome. New findings and genetic analysis.
  58. The Aarskog syndrome.
  59. Addditional features of the Aarskog syndrome.
  60. Aarskog syndrome: new oral-facial findings.
  61. The Aarskog syndrome in three brothers.
  62. Inheritance of the Aarskog syndrome.
  63. Aarskog syndrome (author's transl).
  64. The facial-digital-genital (Aarskog) syndrome.
  65. The Aarskog syndrome.

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