Search Results - "Gail A. P. Bruns"

Candidate loci for Zimmermann-Laband syndrome at 3p14.3 by Kim, Hyung-Goo, Higgins, Anne W., Herrick, Steven R., Kishikawa, Shotaro, Nicholson, Linda, Kutsche, Kerstin, Ligon, Azra H., Harris, David J., MacDonald, Marcy E., Bruns, Gail A.P., Morton, Cynthia C., Quade, Bradley J., Gusella, James F.

“…A male with 46,XY,t(3;17)(p14.3;q24.3) presented with gingival hyperplasia, hypertrichosis, unusually large ears and marked hypertrophy of the nose,…”
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Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping by Gessler, Manfred, Poustka, Annemarie, Cavenee, Webster, Neve, Rachael L, Orkin, Stuart H, Bruns, Gail A. P

“…Cytogenetic analysis has identified chromosome 11p13 as the smallest overlap region for deletions found in individuals with WAGR syndrome, which includes Wilms…”
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Homozygosity of chromosome 13 in retinoblastoma by Dryja, T P, Cavenee, W, White, R, Rapaport, J M, Petersen, R, Albert, D M, Bruns, G A

“…We studied the frequency of chromosome 13 homozygosity in tumor tissue obtained directly from eyes harboring retinoblastomas. The data indicate that…”
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Cloning of Breakpoints of a Chromosome Translocation Identifies the an2 Locus by Gessler, Manfred, Kalle O. J. Simola, Gail A. P. Bruns

“…Chromosome translocations involving 11p13 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2…”
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Amyloid $\beta $ Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage near the Alzheimer Locus by Tanzi, Rudolph E., Gusella, James F., Watkins, Paul C., Gail A. P. Bruns, St George-Hyslop, Peter, Van Keuren, Margaret L., Patterson, David, Pagan, Susan, Kurnit, David M., Neve, Rachael L.

“…The amyloid $\beta $ protein has been identified as an important component of both cerebrovascular amyloid and amyloid plaques of Alzheimer's disease and Down…”
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Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project by Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.

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Human Von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization by Ginsburg, David, Handin, Robert I., Bonthron, David T., Donlon, Timothy A., Gail A. P. Bruns, Latt, Samuel A., Orkin, Stuart H.

“…Human factor VIII-von Willebrand factor (vWF) is a large, multimeric glycoprotein that plays a central role in the blood coagulation system, serving both as a…”
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Human Acid Phosphatase in Somatic Cell Hybrids by Gail A. P. Bruns, Gerald, Park S.

“…The human enzyme, lysosomal acid phosphatase ACP$_{2}$, is expressed in man-rodent somatic cell hybrids as a dimeric molecule. The human-rodent heteropolymer,…”
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Isolation of Human C-Reactive Protein Complementary DNA and Localization of the Gene to Chromosome 1 by Whitehead, Alexander S., Gail A. P. Bruns, Markham, Alexander F., Colten, Harvey R., Woods, Derek E.

“…With a synthetic oligonucleotide mixture as probe, complementary DNA clones of C-reactive protein were isolated from an adult human liver complementary DNA…”
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The erythroid cells and haemoglobins of the chick embryo by Bruns, Gail A. P., Ingram, Vernon Martin

“…The changes in the types of erythroid cells produced during embryogenesis of the chick have been correlated with the changes in the types of haemoglobins found…”
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X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function by Sharon, Dror, Bruns, Gail A. P, McGee, Terri L, Sandberg, Michael A, Berson, Eliot L, Dryja, Thaddeus P

“…To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of…”
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Complement genes on chromosome 6 by Bruns, G A

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Human Glyceraldehyde-3-Phosphate Dehydrogenase in Man-Rodent Somatic Cell Hybrids by Gail A. P. Bruns, Gerald, Park S.

“…The human enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH) forms heteropolymers with the rodent enzyme in man-rodent somatic cell hybrids. A gene…”
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Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene by FONTAINE, B, KHURANA, T. S, ROMANO, D, GUSELLA, J. F, BROWN, R. H, HOFFMAN, E. P, BRUNS, G. A. P, HAINES, J. L, TROFATTER, J. A, HANSON, M. P, RICH, J, MCFARLANE, H, YASEK, D. M

“…Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell…”
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The Major Human Erythroid DNA-Binding Protein (GF-1): Primary Sequence and Localization of the Gene to the X Chromosome by Zon, Leonard I., Tsai, Shih-Feng, Burgess, Shawn, Matsudaira, Paul, Gail A. P. Bruns, Orkin, Stuart H.

“…Genes expressed in erythroid cells contain binding sites for a cell-specific nuclear factor, GF-1 (NF-E1, Eryf 1), believed to be an important transcriptional…”
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Molecular Characterization of Sialophorin (CD43), the Lymphocyte Surface Sialoglycoprotein Defective in Wiskott-Aldrich Syndrome by Shelley, C. Simon, Remold-O'Donnell, Eileen, Davis, Alvin E., Gail A. P. Bruns, Rosen, Fred S., Carroll, Michael C., Whitehead, Alexander S.

“…Sialophorin (CD43) of leukocytes and platelets is a surface sialoglycoprotein that is phenotypically defective on lymphocytes of patients with the X…”
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Human Inhibitor of the First Component of Complement, C1: Characterization of cDNA Clones and Localization of the Gene to Chromosome 11 by Davis, Alvin E., Whitehead, Alexander S., Harrison, Richard A., Dauphinais, Andre, Gail A. P. Bruns, Cicardi, Marco, Rosen, Fred S.

“…C1 inhibitor is a heavily glycosylated plasma protein that regulates the activity of the first component of complement (C1) by inactivation of the serine…”
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An anonymous DNA segment (II227) maps to the long arm of human chromosome 5 and identifies a BstX1 polymorphism (D5S26) by Stewart, Gordon D., Bruns, Gail A. P., Wasmuth, John J., Kurnit, David M.

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Isolation and Sequence of a Human Apolipoprotein CII cDNA Clone and Its Use to Isolate and Map to Human Chromosome 19 the Gene for Apolipoprotein CII by Jackson, Cynthia L., Gail A. P. Bruns, Breslow, Jan L.

“…cDNA clones encoding human apolipoprotein CII (apo CII) were identified by screening an adult human liver cDNA library with a mixed oligonucleotide probe…”
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Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel (Alpha)-Subunit Gene by Fontaine, Bertrand, Khurana, Tejvir S, Hoffman, Eric P, Bruns, Gail A P, Haines, Jonathan L

“…Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell…”
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