Search Results - "Whitmore, Scott A"

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis by Hoff, William van't, Bates, Gillian P, Antignac, Corinne, Jean, Geneviève, Forestier, Lionel, Gribouval, Olivier, Whitmore, Scott A, Town, Margaret, Broyer, Michel, Cherqui, Stèphanie, Attard, Marlene, Callen, David F

“…Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal…”
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CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3 by KOCHETKOVA, Marina, MCKENZIE, Olivia L. D, O'CALLAGHAN, Nathan J, CLETON-JANSEN, Anne-Marie, CORNELISSE, Cees, WHITMORE, Scott A, CRAWFORD, Joanna, KREMMIDIOTIS, Gabriel, SUTHERLAND, Grant R, CALLEN, David F, BAIS, Anthony J, MARTIN, Julie M, SECKER, Genevieve A, SESHADRI, Ram, POWELL, Jason A, HINZE, Susan J, GARDNER, Alison E, SPENDLOVE, Hayley E

“…Numerous cytogenetic and molecular studies of breast cancer have identified frequent loss of heterozygosity (LOH) of the long arm of human chromosome 16. On…”
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The Genomic Organization of the Fanconi Anemia Group A (FAA) Gene by Ianzano, Leonarda, d'Apolito, Maria, Centra, Marta, Savino, Maria, Levran, Orna, Auerbach, Arleen D., Cleton-Jansen, Anne-Marie, Doggett, Norman A., Pronk, Jan C., Tipping, Alex J., Gibson, Rachel A., Mathew, Christopher G., Whitmore, Scott A., Apostolou, Sinoula, Callen, David F., Zelante, Leopoldo, Savoia, Anna

“…Fanconi anemia (FA) is a genetically heterogenous disease involving at least five genes on the basis of complementation analysis (FAAtoFAE). TheFAAgene has…”
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C16orf5, a novel proline-rich gene at 16p13.3, is highly expressed in the brain by Bhalla, K, Eyre, H J, Whitmore, S A, Sutherland, G R, Callen, D F

“…A novel gene has been characterized, designated C16orf5, with an unusually high content of proline residues (40% over 104 residues) at the N-terminus of the…”
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Characterization and Screening for Mutations of the Growth Arrest-Specific 11 (GAS11) andC16orf3Genes at 16q24.3 in Breast Cancer by Whitmore, Scott A., Settasatian, Chatri, Crawford, Joanna, Lower, Karen M., McCallum, Brett, Seshadri, Ram, Cornelisse, Cees J., Moerland, Elna W., Cleton-Jansen, Anne-Marie, Tipping, Alex J., Mathew, Christopher G., Savnio, Maria, Savoia, Anna, Verlander, Peter, Auerbach, Arleen D., Van Berkel, Carola, Pronk, Jan C., Doggett, Norman A., Callen, David F.

“…Loss of heterozygosity involving the long arm of chromosome 16 is a frequent event seen in a number of human carcinomas, including breast, prostate,…”
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Positional cloning of the Fanconi anaemia group A gene by Jansen, Stander, Easton, Douglas F, Memeo, Elena, Deaven, Larry L, D'Apolito, Maria, Pronk, Jan C, Cleton-Jansen, Anne-Marie, Verlander, Peter C, Batish, Sat Dev, Mathew, Christopher G, Notarangeio, Angelo, Cornelisse, Cees J, Moyzis, Robert K, Auerbach, Arleen D, Lennon, Gregory, lanzano, Leonarda, Whitmore, Scott A, Callen, David F, Sutherland, Grant R, Doggett, Norman A, Savino, Maria, Apostolou, Sinoula, Morgan, Neil V, de Ravel, Thomy J, Gibson, Rachel A, Crawford, Joanna, Zelante, Leopoldo, Tipping, Alex J, Moerland, Elna W, Levran, Orna, Savoia, Anna, Van Berkell, Carola, Piemontese, Maria Rosaria, Hassock, Sheila, Erlich, Tamar

“…Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and…”
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Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer by WHITMORE, S. A, SETTASATIAN, C, MATHEW, C. G, SAVNIO, M, SAVOIA, A, VERLANDER, P, AUERBACH, A. D, VAN BERKEL, C, PRONK, J. C, DOGGETT, N. A, CALLEN, D. F, CRAWFORD, J, LOWER, K. M, MCCALLUM, B, SESHADRI, R, CORNELISSE, C. J, MOERLAND, E. W, CLETON-JANSEN, A.-M, TIPPING, A. J

“…Loss of heterozygosity involving the long arm of chromosome 16 is a frequent event seen in a number of human carcinomas, including breast, prostate,…”
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Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 by SETTASATIAN, C, WHITMORE, S. A, CRAWFORD, J, BILTON, R. L, CLETON-JANSEN, A.-M, SUTHERLAND, G. R, CALLEN, D. F

“…SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic paraplegia (HSP), a genetically heterogeneous group of…”
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Characterization of Copine VII, a New Member of the Copine Family, and Its Exclusion as a Candidate in Sporadic Breast Cancers with Loss of Heterozygosity at 16q24.3 by Savino, Maria, d'Apolito, Maria, Centra, Marta, van Beerendonk, Hetty M., Cleton-Jansen, Anne-Marie, Whitmore, Scott A., Crawford, Joanna, Callen, David F., Zelante, Leopoldo, Savoia, Anna

“…In a search for candidate tumor suppressor genes within a 650-kb common region of loss of heterozygosity (LOH) at 16q24.3 in breast cancer tissues, a 2.6-kb…”
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Construction of a High-Resolution Physical and Transcription Map of Chromosome 16q24.3: A Region of Frequent Loss of Heterozygosity in Sporadic Breast Cancer by Whitmore, Scott A., Crawford, Joanna, Apostolou, Sinoula, Eyre, Helen, Baker, Elizabeth, Lower, Karen M., Settasatian, Chatri, Goldup, Sandra, Seshadri, Ram, Gibson, Rachel A., Mathew, Christopher G., Cleton-Jansen, Anne-Marie, Savoia, Anna, Pronk, Jan C., Auerbach, Arleen D., Doggett, Norman A., Sutherland, Grant R., Callen, David F.

“…A breast cancer tumor suppressor gene has been localized to chromosome 16q24.3 by loss of heterozygosity (LOH) studies of breast tumor DNA. To identify…”
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Evaluation of a cosmid contig physical map of human chromosome 16 by Stallings, R L, Doggett, N A, Callen, D, Apostolou, S, Chen, L Z, Nancarrow, J K, Whitmore, S A, Harris, P, Michison, H, Breuning, M

“…A cosmid contig physical map of human chromosome 16 has been developed by repetitive sequence finger-printing of approximately 4000 cosmid clones obtained from…”
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Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3 by Austruy, E, Jeanpierre, C, Antignac, C, Whitmore, S A, Van Cong, N, Bernheim, A, Callen, D F, Junien, C

“…We report the subregional physical and genetic mapping on chromosome 16q of a cDNA clone selected as a potential tumor/growth suppressor sequence. By DNA…”
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