Literature DB >> 31289372

Clinical utility gene card: for incontinentia pigmenti.

Francesca Fusco1, Alessandra Pescatore1, Julie Steffann2, Jean-Paul Bonnefont2, Judite De Oliveira2, Maria Brigida Lioi3, Matilde Valeria Ursini4.   

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Year:  2019        PMID： 31289372      PMCID： PMC6871521          DOI： 10.1038/s41431-019-0463-9

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  20 in total

Review 1.  Signaling to NF-kappaB.

Authors:  Matthew S Hayden; Sankar Ghosh
Journal:  Genes Dev       Date:  2004-09-15       Impact factor: 11.361

2.  Clinical diagnosis of incontinentia pigmenti in a cohort of male patients.

Authors:  Francesca Fusco; Giorgia Fimiani; Gianluca Tadini; D'Urso Michele; Matilde Valeria Ursini
Journal:  J Am Acad Dermatol       Date:  2006-11-07       Impact factor: 11.527

Review 3.  NEMO, NFkappaB signaling and incontinentia pigmenti.

Authors:  David L Nelson
Journal:  Curr Opin Genet Dev       Date:  2006-05-02       Impact factor: 5.578

Review 4.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

5.  Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Authors:  Sarah Hull; Gavin Arno; Penelope Thomson; Stacey Mutch; Andrew R Webster; Harjeet Rai; Virginia Hill; Anthony T Moore
Journal:  Am J Med Genet A       Date:  2015-05-05       Impact factor: 2.802

6.  Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

Authors:  Francesca Fusco; Matilde Immacolata Conte; Andrea Diociaiuti; Stefania Bigoni; Maria Francesca Branda; Alessandra Ferlini; Maya El Hachem; Matilde Valeria Ursini
Journal:  Pediatrics       Date:  2017-08-09       Impact factor: 7.124

7.  Clinical study of 40 cases of incontinentia pigmenti.

Authors:  Smaïl Hadj-Rabia; David Froidevaux; Nathalie Bodak; Dominique Hamel-Teillac; Asma Smahi; Yasmina Touil; Sylvie Fraitag; Yves de Prost; Christine Bodemer
Journal:  Arch Dermatol       Date:  2003-09

8.  Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

Authors:  Francesca Fusco; Mariateresa Paciolla; Alessandra Pescatore; Maria Brigida Lioi; Carmen Ayuso; Francesca Faravelli; Mattia Gentile; Marcella Zollino; Michele D'Urso; Maria Giuseppina Miano; Matilde Valeria Ursini
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

9.  Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Authors:  Matilde Immacolata Conte; Alessandra Pescatore; Mariateresa Paciolla; Elio Esposito; Maria Giuseppina Miano; Maria Brigida Lioi; Maeve A McAleer; Giuliana Giardino; Claudio Pignata; Alan D Irvine; Angela E Scheuerle; Ghislaine Royer; Smail Hadj-Rabia; Christine Bodemer; Jean-Paul Bonnefont; Arnold Munnich; Asma Smahi; Julie Steffann; Francesca Fusco; Matilde Valeria Ursini
Journal:  Hum Mutat       Date:  2013-12-12       Impact factor: 4.878

10.  Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.

Authors:  Maria Rosa Pizzamiglio; Laura Piccardi; Filippo Bianchini; Loredana Canzano; Liana Palermo; Francesca Fusco; Giovanni D'Antuono; Chiara Gelmini; Livia Garavelli; Matilde Valeria Ursini
Journal:  PLoS One       Date:  2014-01-29       Impact factor: 3.240
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  1 in total

Review 1.  Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.

Authors:  Kang Nien How; Hazel Jing Yi Leong; Zacharias Aloysius Dwi Pramono; Kin Fon Leong; Zee Wei Lai; Wei Hsum Yap
Journal:  Front Pediatr       Date:  2022-09-06       Impact factor: 3.569
  1 in total

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