Literature DB >> 23047738

Clinical Utility Gene Card for: incontinentia pigmenti.

Francesca Fusco1, Alessandra Pescatore, Julie Steffann, Ghislaine Royer, Jean-Paul Bonnefont, Matilde Valeria Ursini.   

Abstract

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Year:  2012        PMID： 23047738      PMCID： PMC3722938          DOI： 10.1038/ejhg.2012.227

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


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  14 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.  Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

Authors:  C Houdayer; A Lemonnier; M Gerard; C Chauve; M Tredano; T B de Villemeur; P Aymard; J P Bonnefont; D Feldmann
Journal:  Clin Chem Lab Med       Date:  1999-04       Impact factor: 3.694

3.  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

4.  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

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

Authors:  Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean Paul Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

6.  Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Authors:  R C Allen; H Y Zoghbi; A B Moseley; H M Rosenblatt; J W Belmont
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

7.  A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

Authors:  Julie Steffann; Valérie Raclin; Asmae Smahi; Hayley Woffendin; Arnold Munnich; Sue J Kenwrick; Anne-Gaelle Grebille; Alexandra Benachi; Yves Dumez; Jean-Paul Bonnefont; Smaïl Hadj-Rabia
Journal:  Prenat Diagn       Date:  2004-05       Impact factor: 3.050

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

Authors:  Francesca Fusco; Mariateresa Paciolla; Federico Napolitano; Alessandra Pescatore; Irene D'Addario; Elodie Bal; Maria Brigida Lioi; Asma Smahi; Maria Giuseppina Miano; Matilde Valeria Ursini
Journal:  Hum Mol Genet       Date:  2011-11-25       Impact factor: 6.150

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

Authors:  Francesca Fusco; Tiziana Bardaro; Giorgia Fimiani; Vincenzo Mercadante; Maria Giuseppina Miano; Geppino Falco; Alain Israël; Gilles Courtois; Michele D'Urso; Matilde Valeria Ursini
Journal:  Hum Mol Genet       Date:  2004-06-30       Impact factor: 6.150

10.  Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

Authors:  Tiziana Bardaro; Geppino Falco; Angela Sparago; Vincenzo Mercadante; Esther Gean Molins; Enrico Tarantino; Matilde Valeria Ursini; Michele D'Urso
Journal:  Hum Mutat       Date:  2003-01       Impact factor: 4.878
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  6 in total

1.  Clinical utility gene card: for incontinentia pigmenti.

Authors:  Francesca Fusco; Alessandra Pescatore; Julie Steffann; Jean-Paul Bonnefont; Judite De Oliveira; Maria Brigida Lioi; Matilde Valeria Ursini
Journal:  Eur J Hum Genet       Date:  2019-07-09       Impact factor: 4.246

Review 2.  Melanocytes and their diseases.

Authors:  Yuji Yamaguchi; Vincent J Hearing
Journal:  Cold Spring Harb Perspect Med       Date:  2014-05-01       Impact factor: 6.915

3.  Incontinentia pigmenti: report on data from 2000 to 2013.

Authors:  Francesca Fusco; Mariateresa Paciolla; Matilde Immacolata Conte; Alessandra Pescatore; Elio Esposito; Peppino Mirabelli; Maria Brigida Lioi; Matilde Valeria Ursini
Journal:  Orphanet J Rare Dis       Date:  2014-06-24       Impact factor: 4.123

4.  A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti.

Authors:  Myung Joo Kim; Sang Woo Lyu; Hyun Ha Seok; Ji Eun Park; Sung Han Shim; Tae Ki Yoon
Journal:  Clin Exp Reprod Med       Date:  2014-12-31

Review 5.  Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.

Authors:  Alessandra Pescatore; Ezia Spinosa; Carmela Casale; Maria Brigida Lioi; Matilde Valeria Ursini; Francesca Fusco
Journal:  Int J Mol Sci       Date:  2022-01-21       Impact factor: 5.923

Review 6.  Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Authors:  M Paciolla; A Pescatore; M I Conte; E Esposito; M Incoronato; M B Lioi; F Fusco; M V Ursini
Journal:  Genes Immun       Date:  2015-03-12       Impact factor: 2.676
  6 in total

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