Search Results - "HANNIBAL, M. C"

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy by HANNIBAL, M. C, RUZZO, E. K, BEDFORD, H. M, WORRALL, B. B, LOVITT, S, APPEL, S. H, ANDERMANN, E, BIRD, T. D, CHANCE, P. F, MILLER, L. R, BETZ, B, BUCHAN, J. G, KNUTZEN, D. M, BARNETT, K, LANDSVERK, M. L, BRICE, A, LEGUERN, E

“…Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA…”
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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy by Collie, A M B, Landsverk, M L, Ruzzo, E, Mefford, H C, Buysse, K, Adkins, J R, Knutzen, D M, Barnett, K, Brown, Jr, R H, Parry, G J, Yum, S W, Simpson, D A, Olney, R K, Chinnery, P F, Eichler, E E, Chance, P F, Hannibal, M C

“…Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be…”
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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study by Laccone, F, Hannibal, MC, Neesen, J, Grisold, W, Chance, PF, Rehder, H

“…We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal…”
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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum by Borozdin, W, Wright, M J, Hennekam, R C M, Hannibal, M C, Crow, Y J, Neumann, T E, Kohlhase, J

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Phenotypic spectrum and management issues in Kabuki syndrome by Kawame, Hiroshi, Hannibal, Mark C., Hudgins, Louanne, Pagon, Roberta A.

“…Objective: To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. Design: A…”
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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia by Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang

“…Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions…”
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Activation of the human immunodeficiency virus type 2 enhancer is dependent on purine box and kappa B regulatory elements by MARKOVITZ, D. M, SMITH, M. J, HIFLINGER, J, HANNIBAL, M. C, PETRYNIAK, B, NABEL, G. J

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Differential activation of human immunodeficiency virus type 1 and 2 transcription by specific T-cell activation signals by HANNIBAL, M. C, MARKOVITZ, D. M, CLARK, N, NABEL, G. J

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Activation of the human immunodeficiency virus type 1 enhancer is not dependent on NFAT-1 by MARKOVITZ, D. M, HANNIBAL, M. C, SMITH, M. J, COSSMAN, R, NABEL, G. J

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The peri-kappa B site mediates human immunodeficiency virus type 2 enhancer activation in monocytes but not in T cells by Clark, N M, Hannibal, M C, Markovitz, D M

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Multiple cis-Acting Elements in the Human Immunodeficiency Virus Type 2 Enhancer Mediate the Response to T-Cell Receptor Stimulation by Antigen in a T-Cell Hybridoma Line by Hannibal, Mark C., Markovitz, David M., Nabel, Gary J.

“…Transcription directed by the human immunodeficiency virus type 2 long terminal repeat (HIV-2 LTR) responds to T-cell antigen receptor signaling. Agents that…”
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FVB/N (H2(q)) mouse is resistant to arthritis induction and exhibits a genomic deletion of T-cell receptor V beta gene segments by Osman, G E, Hannibal, M C, Anderson, J P, Lasky, S R, Ladiges, W C, Hood, L

“…Animal models of autoimmune diseases have been instrumental in advancing our understanding of autoimmunity in humans. Collagen-induced arthritis (CIA) in mice…”
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T-cell receptor vbeta deletion and valpha polymorphism are responsible for the resistance of SWR mouse to arthritis induction by Osman, G E, Hannibal, M C, Anderson, J P, Cheunsuk, S, Lasky, S R, Liggitt, H D, Ladiges, W C, Hood, L E

“…Collagen type II-induced arthritis (CIA) develops in susceptible mouse strains after intradermal injections of type II collagen (CII) in complete Freund's…”
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Lymphoid Expression and TATAA Binding of a Human Protein Containing an Antennapedia Homeodomain by Baier, Leslie J., Hannibal, Mark C., Hanley, Edward W., Nabel, Gary J.

“…In an effort to identify human proteins that bind to the TATAA box, a Xgt-11 expression library was screened with a radiolabeled DNA probe containing 12 copies…”
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy by Jonghe, Peter De, Goossens, Dirk, Kurlemann, Gert, Mononen, Tarja, Nelis, Eva, Ringelstein, E Bernd, Schirmacher, Anja, Prats, José M, Bird, Thomas D, Kuhlenbäumer, Gregor, Stögbauer, Florian, Meuleman, Jan, Young, Peter, Del-Favero, Jurgen, Broeckhoven, Christine Van, Irobi, Joy, Betz, Benjamin G, Hannibal, Mark C, Watts, Giles D J, Timmerman, Vincent, Serradell, Adolfo Pou, Vriendt, Els De, Airaksinen, Eila, Hor, Hyun, Halfter, Hartmut, Chance, Phillip F, Verpoorten, Nathalie

“…Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors…”
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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations by Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, RaoulC.M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips III, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

“…Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are…”
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome by MCDERMOTT, Deborah A, BRESSAN, Michael C, PIERPONT, Mary Ella, RAAS-ROTHSCHILD, Annick, SHANSKE, Alan L, SMITH, Wendy E, SPENCER, Robert H, JOHN-SUTTON, Martin G. St, VAN MALDERGEM, Lionel, WAGGONER, Darrel J, WEBER, Matthew, BASSON, Craig T, JIE HE, LEE, Joseph S, AFTIMOS, Salim, BRUECKNER, Martina, GILBERT, Fred, GRAHAM, Gail E, HANNIBAL, Mark C, INNIS, Jeffrey W

“…Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by…”
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T-cell receptor V beta deletion and V alpha polymorphism are responsible for the resistance of SWR mouse to arthritis induction by Osman, GE, Hannibal, M C, Anderson, J P, Cheunsuk, S, Lasky, SR, Liggitt, H D, Ladiges, W C, Hood, LE

“…Collagen type II-induced arthritis (CIA) develops in susceptible mouse strains after intradermal injections of type II collagen (CII) in complete Freund's…”
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Lymphoid expression ant TATAA binding of a human protein containing an Antennapedia homeodomain by BAIER, L. J, HANNIBAL, M. C, HANLEY, E. W, NABEL, G. J

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Multiple cis-acting elements in the human immunodeficiency virus type 2 enhancer mediate the response to T-cell receptor stimulation by antigen in a T-cell hybridoma line by Hannibal, MC, Markovitz, DM, Nabel, GJ

“…Transcription directed by the human immunodeficiency virus type 2 long terminal repeat (HIV-2 LTR) responds to T-cell antigen receptor signaling. Agents that…”
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