A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3 von Cabot, Annick, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Ducroq, Dominique, Smahi, Asmae, Souied, Eric, Munnich, Arnold, Kaplan, Josseline

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A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti von Steffann, Julie, Raclin, Valérie, Smahi, Asmae, Woffendin, Hayley, Munnich, Arnold, Kenwrick, Sue J., Grebille, Anne-Gaelle, Benachi, Alexandra, Dumez, Yves, Bonnefont, Jean-Paul, Hadj-Rabia, Smaïl

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A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations von 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

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Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome von 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

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Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia von Siffroi, Jean Pierre, Benzacken, Brigitte, Angelopoulou, Roxani, Le Bourhis, Corine, Berthaut, Isabelle, Kanafani, Samia, Smahi, Asmae, Wolf, Jean Philippe, Dadoune, Jean Pierre

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Alternative centromeric inactivation in a pseudodicentric t von Benzacken, Brigitte, Siffroi, Jean Pierre, Bourhis, Corine Le, Angelopoulou, Roxani, Berthaut, Isabelle, Kanafani, Samia, Smahi, Asmae, Wolf, Jean Philippe, Dadoune, Jean Pierre

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Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti von Smahi, Asmae, Courtois, G, Vabres, P, Yamaoka, S, Heuertz, S, Munnich, A, Israel, A, Heiss, Nina S, Klauck, S. M, Kioschis, P, Wiemann, S, Poustka, A, Esposito, Teresa, Bardaro, T, Gianfrancesco, F, Ciccodicola, A, D'Urso, M, Woffendin, Hayley, Jakins, T, Donnai, D, Stewart, H, Kenwrick, S. J, Aradhya, Swaroop, Yamagata, T, Levy, M, Lewis, R. A, Nelson, D. L

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Genomic rearrangement in NEMO impairs NF-B activation and is a cause of incontinentia pigmenti von Smahi, Asmae, Courtois, G, Vabres, P, Yamaoka, S, Heuertz, S, Munnich, A, Israel, A, Heiss, Nina S, Klauck, S M, Kioschis, P, Wiemann, S, Poustka, A, Esposito, Teresa, Bardaro, T, Gianfrancesco, F, Ciccodicola, A, D'Urso, M, Woffendin, Hayley, Jakins, T, Donnai, D, Stewart, H, Kenwrick, S J, Aradhya, Swaroop, Yamagata, T, Levy, M, Lewis, R A, Nelson, D L

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Mutation analysis of the DKC1 gene in incontinentia pigmenti von HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D’URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, KENWRICK, SUSAN

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Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL) von HEUERTZ, S, SMAHI, A, WILKIE, A. O. M, LE MERRER, M, MAROTEAUX, P, HORS-CAYLA, M.-C

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Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF- B) activation von Kenwrick, Sue J, Woffendin, Hayley, Munnich, Arnold, Smahi, Asmae, Israel, Alain, Poustka, Annemarie, Heiss, Nina, D'Urso, Michele, Lewis, Richard A, Nelson, David L, Aradhya, Swaroop, Levy, Moise

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Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-kappaB) activation von HEISS NINA, KENWRICK SUE J, ISRAEL ALAIN, LEWIS RICHARD A, POUSTKA ANNEMARIE, WOFFENDIN HAYLEY, SMAHI ASMAE, NELSON DAVID L, MUNNICH ARNOLD, D'URSO MICHELE, LEVY MOISE, ARADHYA SWAROOP

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Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-kappaB) activation von HEISS NINA, KENWRICK SUE J, LEWIS RICHARD ALAN, ISRAEL ALAIN, POUSTKA ANNEMARIE, WOFFENDIN HAYLEY, SMAHI ASMAE, NELSON DAVID L, MUNNICH ARNOLD, D'URSO MICHELE, LEVY MOISE, ARADHYA SWAROOP

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Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-kappaB) activation von Woffendin, Hayley, Kenwrick, Sue, Munnich, Arnold, Smahi, Asmae, Israel, Alain, Poustka, Annemarie, Heiss, Nina, D'Urso, Michele, Lewis, Richard, Nelson, David, Aradhya, Swaroop, Levy, Moise

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Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2 von Aradhya, Swaroop, Ahobila, Pallavi, Lewis, Richard Alan, Nelson, David L., Esposito, Teresa, Ciccodicola, Alfredo, Bardaro, Tiziana, D'Urso, Michele, Woffendin, Hayley, Kenwrick, Susan, Smahi, Asmae, Heuertz, Solange, Munnich, Arnold, Heiss, Nina S., Poustka, Annemarie, Chishti, Athar H.

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Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2 von Aradhya, Swaroop, Nelson, David L., Heiss, Nina S., Poustka, Annemarie, Woffendin, Hayley, Kenwrick, Susan, Esposito, Teresa, Ciccodicola, Alfredo, Bardaro, Tiziana, D'Urso, Michele, Smahi, Asmae, Munnich, Arnold, Herman, Gail E., Lewis, Richard Alan

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Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2 von Aradhya, Swaroop, Nelson, David L., Heiss, Nina S., Poustka, Annemarie, Woffendin, Hayley, Kenwrick, Susan, Esposito, Teresa, Ciccodicola, Alfredo, Bardaro, Tiziana, D'Urso, Michele, Smahi, Asmae, Munnich, Arnold, Herman, Gail E., Lewis, Richard Alan

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Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2 von Aradhya, Swaroop, Ahobila, Pallavi, Lewis, Richard Alan, Nelson, David L., Esposito, Teresa, Ciccodicola, Alfredo, Bardaro, Tiziana, D'Urso, Michele, Woffendin, Hayley, Kenwrick, Susan, Smahi, Asmae, Heuertz, Solange, Munnich, Arnold, Heiss, Nina S., Poustka, Annemarie, Chishti, Athar H.

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Correlation of Epidermal Growth Factor Receptor Mutation With Major Histologic Subtype of Lung Adenocarcinoma According to IASLC/ATS/ERS Classification von Boukansa, Sara, Benbrahim, Zineb, Gamrani, Sanaa, Bardai, Sanae, Bouguenouch, Laila, Mazti, Asmae, Boutahiri, Nadia, Serraj, Mounia, Amara, Bouchra, Ouadnouni, Yassine, Smahi, Mohamed, Alami, Badreeddine, Mellas, Nawfel, El Fatemi, Hinde

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A rare cause of bronchial obstruction: Endobronchial hamartoma case report von Bouanani, Zineb, Raïs, Asmae, Benbrahim, Fatima Zahra, Akammar, Amal, Bouardi, Nizar El, Haloua, Meryem, Lamrani, Youssef My Alaoui, Boubbou, Meryem, Serraj, Mounia, Amara, Bouchra, Lakranbi, Marouane, Ouadnouni, Yassine, Smahi, Mohammed, Maaroufi, Mustapha, Alami, Badreddine

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