Incontinentia pigmenti diagnostic criteria update (Q45195891)

10 December 2017

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Incontinentia pigmenti diagnostic criteria update (English)

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10 December 2017

S Minić

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10 December 2017

D Trpinac

series ordinal

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10 December 2017

M Obradović

series ordinal

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10 December 2017

publication date

21 July 2013

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10 December 2017

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10 December 2017

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10 December 2017

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10 December 2017

page(s)

536-542

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Incontinentia pigmenti (Bloch-Sulzberger syndrome).

10 December 2017

cites work

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Systematic review of central nervous system anomalies in incontinentia pigmenti

21 January 2018

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

21 January 2018

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It's got you covered. NF-kappaB in the epidermis.

21 January 2018

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Dental and oral anomalies in incontinentia pigmenti: a systematic review

21 January 2018

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Clinical Utility Gene Card for: incontinentia pigmenti

21 January 2018

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Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities

21 January 2018

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Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

21 January 2018

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Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies

21 January 2018

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Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

21 January 2018

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Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

21 January 2018

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The skin is not the predominant problem in incontinentia pigmenti

21 January 2018

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Incontinentia pigmenti: clinical observation of 40 Korean cases.

21 January 2018

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Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis

21 January 2018

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Retinal tears occurring at the border of vascular and avascular retina in adult patients with incontinentia pigmenti

21 January 2018

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Spontaneous retinal reattachment in incontinentia pigmenti

21 January 2018

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Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome).

21 January 2018

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X-linked mental retardation

21 January 2018

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Epilepsy in North America: a report prepared under the auspices of the global campaign against epilepsy, the International Bureau for Epilepsy, the International League Against Epilepsy, and the World Health Organization.

21 January 2018

1 reference

"Idiopathic" mental retardation and new chromosomal abnormalities

21 January 2018

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Incontinentia pigmenti with ultrastructurally disordered leucocytes

21 January 2018

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Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

21 January 2018

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Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

21 January 2018

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Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report.

21 January 2018

1 reference

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

21 January 2018

1 reference

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

21 January 2018

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Clinical Study of 40 Cases of Incontinentia Pigmenti

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12223

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10 December 2017

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