Incontinentia pigmenti

None (1998) Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue.

Hecht F et al. (1982) Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.

Kurczynski TW et al. (1982) Studies of a family with incontinentia pigmenti variably expressed in both sexes.

Wiklund DA et al. (1980) Incontinentia pigmenti. A four-generation study.

Smahi A et al. (1994) The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

None (1994) Incontinentia pigmenti nomenclature.

Traupe H et al. (1994) Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.

Landy SJ et al. (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Pettenati MJ et al. (1993) Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.

Pfau A et al. (1995) Recurrent inflammation in incontinentia pigmenti of a seven-year-old child.

Munné S et al. (1996) Case report: unusually high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti.

Kirchman TT et al. (1995) Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Parrish JE et al. (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

Jewett T et al. (1997) A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation.

Jouet M et al. () Linkage analysis in 16 families with incontinentia pigmenti.

Roberts JL et al. (1998) Incontinentia pigmenti in a newborn male infant with DNA confirmation.

Devriendt K et al. (1998) Second trimester miscarriage of a male fetus with incontinentia pigmenti.

Liu XY et al. (1999) The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

Heiss NS et al. (1999) Mutation analysis of the DKC1 gene in incontinentia pigmenti.

Aradhya S et al. (2000) Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

Aradhya S et al. (2000) Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

Mansour S et al. (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

Bodak N et al. (2003) Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

None (1960) [On the problem of heredity in Bloch-Siemens incontinentia pigmenti].

None (1961) [On the genetics of incontinentia pigmenti].

None (1952) The Bloch-Sulzberger syndrome (incontinentia pigmenti).

O'Doherty M et al. (2011) Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

Minić S et al. (2014) Incontinentia pigmenti diagnostic criteria update.

Basilius J et al. (2015) Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti.

Mariath LM et al. (2018) Intrafamilial clinical variability in four families with incontinentia pigmenti.

None (1984) Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

Rudolph D et al. (2000) Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice.

Smahi A et al. (2000) Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Aradhya S et al. (2001) A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Gartler SM et al. (1975) Half chromatid mutations: transmission in humans?

Kunze J et al. (1977) Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.

None (1975) Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Bargman HB et al. (1975) Incontinentia pigmenti in a 21-year-old man.

None (1976) Incontinentia pigmenti. A world statistical analysis.

Sefiani A et al. (1991) Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Gorski JL et al. (1991) Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.

García-Dorado J et al. (1990) Incontinentia pigmenti: XXY male with a family history.

Migeon BR et al. (1989) Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Sefiani A et al. (1989) The gene for incontinentia pigmenti is assigned to Xq28.

Harris A et al. (1988) The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

None (1987) Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.

Sefiani A et al. (1988) Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Pallotta R et al. (1988) Chromosomal instability in incontinentia pigmenti: study of four families.

Ormerod AD et al. (1987) Incontinentia pigmenti in a boy with Klinefelter's syndrome.

None (1987) Tentative assignment of hypomelanosis of Ito to 9q33----qter.

Gilgenkrantz S et al. (1985) Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

Kajii T et al. (1985) Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.

Wieacker P et al. (1985) X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.

Hodgson SV et al. (1985) Two cases of X/autosome translocation in females with incontinentia pigmenti.

Carney RG et al. (1970) Incontinentia pigmenti.

Reed WB et al. (1967) Incontinentia Pigmenti.

Hecht F et al. (1983) The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti.

Sommer A et al. (1984) Incontinentia pigmenti in a father and his daughter.

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