תוצאות חיפוש - Shaffer Lisa G

A new open access journal for a rapidly evolving biomedical field: introducing <it>Molecular Cytogenetics</it> מאת Yurov Yuri B, Liehr Thomas, Shaffer Lisa G, Iourov Ivan Y, Vorsanova Svetlana G

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Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH מאת Bejjani Bassem A, Torchia Beth S, Neill Nicholas J, Shaffer Lisa G, Ballif Blake C

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report מאת Rosenfeld Jill A, Hudson Beth, Fan Zheng, Traylor Ryan N, Shaffer Lisa G, Torchia Beth S, Ballif Blake C

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Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmenta... מאת Bejjani Bassem A, Shaffer Lisa G, Torchia Beth A, Jackson Kelly, Haj Roland, Gowans Gordon C, Ruff Michael W

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Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution מאת Babcock, Melanie, Pavlicek, Adam, Spiteri, Elizabeth, Kashork, Catherine D., Ioshikhes, Ilya, Shaffer, Lisa G., Jurka, Jerzy, Morrow, Bernice E.

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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region מאת Kashork Catherine D, Pan Yanzhen, Bressler Jan, Liu Qian, Wauki Kekio, Jiang Yong-hui, Shaffer Lisa G, Beaudet Arthur L

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Parental Origin and Timing of De Novo Robertsonian Translocation Formation מאת Bandyopadhyay, Ruma, Heller, Anita, Knox-DuBois, Cami, McCaskill, Christopher, Berend, Sue Ann, Page, Scott L., Shaffer, Lisa G.

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Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of Crossovers in Chromosome 21 Nondisjunction מאת Berend, Sue Ann, Page, Scott L., Atkinson, William, McCaskill, Christopher, Lamb, Neil E., Sherman, Stephanie L., Shaffer, Lisa G.

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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females מאת Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T. R., Yoneyama, Akira, Rosenbarker, Lisa, Bird, Thomas D., Hodes, M. E., Shaffer, Lisa G., Lupski, James R.

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Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis מאת McDaniel Lisa D, Forman Stephen J, Smith David D, Bedell Victoria, Gaal Karl, Delioukina Maria, Schultz Roger A, Ballif Blake C, Shaffer Lisa G, Slovak Marilyn L

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Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes מאת Forman Stephen J, O'Donnell Margaret, Hsu Ya-Hsuan, Bedell Victoria, Smith David D, Slovak Marilyn L, Gaal Karl, McDaniel Lisa, Schultz Roger, Ballif Blake C, Shaffer Lisa G

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Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse מאת Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication מאת Friedrich Christopher A, Escobar Luis F, Tervo Raymond, Schmidt Karen R, Madan-Khetarpal Suneeta, Hersh Joseph H, Gowans Gordon C, Coppinger Justine, Theisen Aaron, Ballif Blake C, McDonald Marie, Campbell Lindsey, Ming Jeffrey E, Zackai Elaine H, Bejjani Bassem A, Shaffer Lisa G

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Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis מאת Kolquist Kathryn A, Schultz Roger A, Slovak Marilyn L, McDaniel Lisa D, Brown Theresa C, Tubbs Raymond R, Cook James R, Theil Karl S, Cawich Victoria, Valentin Caitlin, Minier Sara, Neill Nicholas J, Byerly Steve, Morton S, Sahoo Trilochan, Ballif Blake C, Shaffer Lisa G

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