Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion
Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Gean Molins, Esther, Tarantino, Enrico, Valeria Ursini, Matilde, D'Urso, Michele
Published in Human mutation (01.01.2003)
Published in Human mutation (01.01.2003)
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Journal Article
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation
Fusco, Francesca, Bardaro, Tiziana, Fimiani, Giorgia, Mercadante, Vincenzo, Miano, Maria Giuseppina, Falco, Geppino, Israël, Alain, Courtois, Gilles, D'Urso, Michele, Ursini, Matilde Valeria
Published in Human molecular genetics (15.08.2004)
Published in Human molecular genetics (15.08.2004)
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Journal Article
A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations
ARADHYA, Swaroop, WOFFENDIN, Hayley, LEWIS, Richard A, KENWRICK, Sue, NELSON, David L, JAKINS, Tracy, BARDARO, Tiziana, ESPOSITO, Teresa, SMAHI, Asmae, SHAW, Christine, LEVY, Moise, MUNNICH, Arnold, D'URSO, Michele
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Journal Article
Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
Kenwrick, S, Woffendin, H, Jakins, T, Shuttleworth, S G, Mayer, E, Greenhalgh, L, Whittaker, J, Rugolotto, S, Bardaro, T, Esposito, T, D'Urso, M, Soli, F, Turco, A, Smahi, A, Hamel-Teillac, D, Lyonnet, S, Bonnefont, J P, Munnich, A, Aradhya, S, Kashork, C D, Shaffer, L G, Nelson, D L, Levy, M, Lewis, R A
Published in American journal of human genetics (01.12.2001)
Published in American journal of human genetics (01.12.2001)
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Journal Article
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
ARADHYA, Swaroop, BARDARO, Tiziana, D'URSO, Michele, NELSON, David L, GALGOCZY, Petra, YAMAGATA, Takanori, ESPOSITO, Teresa, PATLAN, Henry, CICCODICOLA, Alfredo, MUNNICH, Arnold, KENWRICK, Sue, PLATZER, Matthias
Published in Human molecular genetics (15.10.2001)
Published in Human molecular genetics (15.10.2001)
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Journal Article
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
Fusco, Francesca, Bardaro, Tiziana, Fimiani, Giorgia, Mercadante, Vincenzo, Miano, Maria Giuseppina, Falco, Geppino, Israël, Alain, Courtois, Gilles, D'Urso, Michele, Ursini, Matilde Valeria
Published in Human molecular genetics (15.08.2004)
Get full text
Published in Human molecular genetics (15.08.2004)
Journal Article
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-KB activation
FUSCO, Francesca, BARDARO, Tiziana, FIMIANI, Giorgia, MERCADANTE, Vincenzo, GIUSEPPINA MIANO, Maria, FALCO, Geppino, ISRAËL, Alain, COURTOIS, Gilles, D'URSO, Michele, URSINI, Matilde Valeria
Published in Human molecular genetics (2004)
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Published in Human molecular genetics (2004)
Journal Article
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK³ dene deletion
Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Esther Gean Molins, Tarantino, Enrico, Ursini, Matilde Valeria, D'Urso, Michele
Published in Human mutation (01.01.2003)
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Published in Human mutation (01.01.2003)
Journal Article
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ dene deletion
Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Gean Molins, Esther, Tarantino, Enrico, Valeria Ursini, Matilde, D'Urso, Michele
Published in Human mutation (01.01.2003)
Published in Human mutation (01.01.2003)
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Journal Article
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMOandLAGE2 genes
Swaroop Aradhya, Bardaro, Tiziana, Galgoczy, Petra, Takanori, Yamagata, Teresa, Esposito, Patlan, Henry, Ciccodicola, Alfredo, Munnich, Arnold, Kenwrick, Sue, Platzer, Matthias, D'Urso, Michele, Nelson, David L
Published in Human molecular genetics (15.10.2001)
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Published in Human molecular genetics (15.10.2001)
Journal Article
Physical and Genetic Characterization Reveals a Pseudogene, an Evolutionary Junction, and Unstable Loci in Distal Xq28
Aradhya, Swaroop, Woffendin, Hayley, Bonnen, Penelope, Heiss, Nina S., Yamagata, Takanori, Esposito, Teresa, Bardaro, Tiziana, Poustka, Annemarie, D'Urso, Michele, Kenwrick, Sue, Nelson, David L.
Published in Genomics (San Diego, Calif.) (01.01.2002)
Published in Genomics (San Diego, Calif.) (01.01.2002)
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Journal Article
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Gean Molins, Esther, Tarantino, Enrico, Ursini, Matilde Valeria, D'Urso, Michele
Published in Human mutation (01.01.2003)
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Published in Human mutation (01.01.2003)
Journal Article
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
Aradhya, S, Nelson, D L, Heiss, N S, Poustka, A, Woffendin, H, Kenwrick, S, Esposito, T, Ciccodicola, A, Bardaro, T, D'Urso, M, Smahi, A, Munnich, A, Herman, G E, Lewis, R A
Published in American journal of medical genetics (20.03.2000)
Published in American journal of medical genetics (20.03.2000)
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Journal Article
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2
Aradhya, S, Ahobila, P, Lewis, R A, Nelson, D L, Esposito, T, Ciccodicola, A, Bardaro, T, D'Urso, M, Woffendin, H, Kenwrick, S, Smahi, A, Heuertz, S, Munnich, A, Heiss, N S, Poustka, A, Chishti, A H
Published in American journal of medical genetics (04.09.2000)
Published in American journal of medical genetics (04.09.2000)
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Journal Article