Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Journal of Human Genetics

Volumn 45, Issue 6, 2000, Pages 323-326

  Shastry, Barkur S ^a  

^a OAKLAND UNIVERSITY   (United States)

Author keywords

Dominant; Genes; Linkage; Translocation; X Linked

Indexed keywords

ANIMAL MODEL; CHROMOSOME TRANSLOCATION; FEMALE; GENETIC LINKAGE; GENODERMATOSIS; HUMAN; HUMAN CELL; INCONTINENTIA PIGMENTI; MOUSE; NONHUMAN; SHORT SURVEY; SKIN DISEASE; X CHROMOSOME DOMINANT DISORDER; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

ANIMALIA; MURINAE;

EID: 0033671563     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070001     Document Type: Short Survey

References (56)

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2. Incontinentia pigmenti (type 1) and X; 5 translocation
3. New insight into the manmouse comparative map of the X-chromosome
4. Gene for incontinentia pigmenti maps to band Xp11 with an (X; 10)(p11; q22) translocation
5. Incontinentia pigmenti: A world statistical analysis
6. Second trimester miscarriage of a female fetus with incontinentia pigmenti
7. Incontinentia pigmenti (IP) and r(X): Tentative mapping of the IP locus to the X juxtacentromeric region
8. Streaked hairlessness in Holstein-Friesian cattle: A sex-linked lethal character
9. Mapping dysmorphic syndromes with the aid of the human/mouse homology map
10. Persistence of fetal vasculature in the eye of patients with incontinentia pigmenti
11. Corneal abnormality associated with incontinentia pigmenti
12. Peculiar pigmentation of the skin in an infant
13. Half chromatid mutations: Transmission in humans
14. Translocation (X; 9)(p11; q34) in a girl with incontinentia pigmenti (IP): Implication for the regional assignment of the IP locus to Xp11?
15. Retinal and other manifestations in incontinentia pigmenti (Bloch-Sulzberger syndrome)
16. Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180kb region within a 1.2Mb YAC contig
17. Lyonization and the lines of Blaschko
18. Incontinentia pigmenti versus hypomelanosis of Ito: The whys and wherefores of a confusing issue
19. Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model
20. Mutation analysis Of the DKC1 gene in incontinentia pigmenti
21. Two cases of X/autosome translocation in females with incontinentia pigmenti
22. A case revisited: Recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation
23. Linkage analysis in 16 families with incontinentia pigmenti
24. Translocation (X; 13) (p11.2; q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma
25. Gonadal mosaicism for incontinentia pigmenti in a healthy male
26. Studies of a family with incontinentia pigmenti variably expressed in both sexes
27. Incontinentia pigmenti (Bloch-Sulzberger syndrome)
28. Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back mutation (reversion) model
29. Half chromatid mutation may explain incontinentia pigmenti in males
30. Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
31. Selection against lethal alleles in female heterozygous for incontinentia pigmenti
32. A novel diagnostic test for incontinentia pigmenti
33. Case report: Unusually high rates of aneuploid embryos in a 28-year-old woman with incontinentia pigmenti
34. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2
35. Incontinentia pigmenti in a male infant with Klinefelter syndrome
36. Incontinentia pigmenti in a newborn male infant with DNA confirmation
37. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28
38. Male cases of incontinentia pigmenti
39. The gene for incontinentia pigmenti is assigned to Xq28
40. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal long arm markers
41. Optic nerve neovascularization in incontinentia pigmenti
42. Evaluation of Norrie disease gene in a family with incontinentia pigmenti
43. Male driven evolution of DNA sequences
44. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
45. Incontinentia pigmenti associated with nasolacrimal duct obstruction
46. Incontinentia pigmenti in a father and his daughter
47. Incontinentia pigmenti (Bloch-Sulzherger syndrome): Seven case reports from one family
48. Human homologue of the murine bare patches/Striated gene is not mutated in incontinentia pigmenti type 2
49. Incontinentia pigmenti nomenclature
50. High male: Female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked disorders
51. Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males
52. A probable sex difference in some mutation rates
53. Spontaneous mutation in man
54. X-Linked dominant inherited diseases with lethality in hemizygous males
55. X-Inactivation patterns in two syndromes with probable X-linked dominant male lethal inheritance