Specific correction of a splice defect in brain by nutritional supplementation von Shetty, Ranjit S., Gallagher, Cary S., Chen, Yei-Tsung, Hims, Matthew M., Mull, James, Leyne, Maire, Pickel, James, Kwok, David, Slaugenhaupt, Susan A.

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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia von Slaugenhaupt, Susan A., Blumenfeld, Anat, Gill, Sandra P., Leyne, Maire, Mull, James, Cuajungco, Math P., Liebert, Christopher B., Chadwick, Brian, Idelson, Maria, Reznik, Luba, Robbins, Christiane M., Makalowska, Izabela, Brownstein, Michael J., Krappmann, Daniel, Scheidereit, Claus, Maayan, Channa, Axelrod, Felicia B., Gusella, James F.

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New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies von NESTA, Francesca, LEYNE, Maire, YOSEFY, Chaim, SIMPSON, Charles, DAI, Daisy, MARSHALL, Jane E, HUNG, Judy, SLAUGENHAUPT, Susan A, LEVINE, Robert A

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Rescue of a human mRNA splicing defect by the plant cytokinin kinetin von Slaugenhaupt, Susan A., Mull, James, Leyne, Maire, Cuajungco, Math P., Gill, Sandra P., Hims, Matthew M., Quintero, Fabiola, Axelrod, Felicia B., Gusella, James F.

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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect von Hims, Matthew M., Shetty, Ranjit S., Pickel, James, Mull, James, Leyne, Maire, Liu, Lijuan, Gusella, James F., Slaugenhaupt, Susan A.

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Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia von Cuajungco, Math P., Leyne, Maire, Mull, James, Gill, Sandra P., Lu, Weining, Zagzag, David, Axelrod, Felicia B., Maayan, Channa, Gusella, James F., Slaugenhaupt, Susan A.

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A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 von Freed, Lisa A., Acierno, James S., Dai, Daisy, Leyne, Maire, Marshall, Jane E., Nesta, Francesca, Levine, Robert A., Slaugenhaupt, Susan A.

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Identification of the first non-Jewish mutation in familial Dysautonomia von Leyne, Maire, Mull, James, Gill, Sandra P., Cuajungco, Math P., Oddoux, Carole, Blumenfeld, Anat, Maayan, Channa, Gusella, James F., Axelrod, Felicia B., Slaugenhaupt, Susan A.

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Molecular cloning and developmental expression of a small ribonuclear protein in the mouse testis von Morales, C.R., Leyne, M., El-Alfy, M., Oko, R.

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Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? von Mezey, Éva, Parmalee, Alissa, Szalayova, Ildiko, Gill, Sandra P., Cuajungco, Math P., Leyne, Maire, Slaugenhaupt, Susan A., Brownstein, Michael J.

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Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31 von Blumenfeld, Anat, Slaugenhaupt, Susan A., Liebert, Christopher B., Temper, Violeta, Maayan, Channa, Gill, Sandra, Lucente, Diane E., Idelson, Maria, MacCormack, Kathy, Monahan, Mary Anne, Mull, James, Leyne, Maire, Mendillo, Marc, Schiripo, Taryn, Mishori, Esther, Breakefield, Xandra, Axelrod, Felicia B., Gusella, James F.

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Cloning, characterization, and genomic structure of the mouse Ikbkap gene von Cuajungco, M P, Leyne, M, Mull, J, Gill, S P, Gusella, J F, Slaugenhaupt, S A

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Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31 von Chadwick, Brian P., Mull, James, Helbling, Lisa A., Gill, Sandra, Leyne, Maire, Robbins, Christiane M., Pinkett, Heather W., Makalowska, Izabela, Maayan, Channa, Blumenfeld, Anat, Axelrod, Felicia B., Brownstein, Mike, Gusella, James F., Slaugenhaupt, Susan A.

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A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2 von Acierno, James S., Kennedy, John C., Falardeau, John L., Leyne, Maire, Bromley, Matthew C., Colman, Matthew W., Sun, Mei, Bove, Catherine, Ashworth, Linda K., Chadwick, Lisa H., Schiripo, Taryn, Ma, Sue, Goldin, Ehud, Schiffmann, Raphael, Slaugenhaupt, Susan A.

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Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene von Chadwick, B P, Gill, S, Leyne, M, Mull, J, Liebert, C B, Robbins, C M, Pinkett, H W, Makalowska, I, Maayan, C, Blumenfeld, A, Axelrod, F B, Brownstein, M, Slaugenhaupt, S A

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Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31 von Chadwick, B P, Leyne, M, Gill, S, Liebert, C B, Mull, J, Mezey, E, Robbins, C M, Pinkett, H W, Makalowska, I, Maayan, C, Blumenfeld, A, Axelrod, F B, Brownstein, M, Gusella, J F, Slaugenhaupt, S A

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An experimental study of electrochemical incompatibility between repaired patch concrete and existing old concrete von Ali, M. Shafqat, Leyne, Eileen, Saifuzzaman, Mohammad, Mirza, M. Saeed

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Genetic control of wheat quality: interactions between chromosomal regions determining protein content and composition, dough rheology, and sponge and dough baking properties von Mann, Gulay, Diffey, Simon, Cullis, Brian, Azanza, Fermin, Martin, David, Kelly, Alison, McIntyre, Lynne, Schmidt, Adele, Ma, Wujun, Nath, Zena, Kutty, Ibrahim, Leyne, P. Emmett, Rampling, Lynette, Quail, Ken J, Morell, Matthew K

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Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP von Chen, Yei-Tsung, Hims, Matthew M., Shetty, Ranjit S., Mull, James, Liu, Lijuan, Leyne, Maire, Slaugenhaupt, Susan A.

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Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia von HIMS, Matthew M, CHERIF IBRAHIM, El, SLAUGENHAUPT, Susan A, LEYNE, Maire, MULL, James, LIJUAN LIU, LAZARO, Conxi, SHETTY, Ranjit S, GILL, Sandra, GUSELLA, James F, REED, Robin

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