Resultats de la cerca - Ballif, Blake C.

The Promise and Pitfalls of Telomere Region–Specific Probes per Ballif, Blake C., Kashork, Catherine D., Shaffer, Lisa G.

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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines per Shaffer, Lisa G., Geretschlaeger, Anja, Ramirez, Christina J., Ballif, Blake C., Carl, Casey

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

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Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing per Ramirez, Christina J., Krug, Melissa, Zahand, Adam, Sundin, Kyle, 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 per Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications per Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.

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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome per Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.

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Standards and guidelines for canine clinical genetic testing laboratories per Shaffer, Lisa G., Sundin, Kyle, Geretschlaeger, Anja, Segert, Julia, Swinburne, June E., Royal, Ramon, Loechel, Robert, Ramirez, Christina J., Ballif, Blake C.

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Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism per Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine

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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH per Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes per Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome per Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.

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

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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies per Shaffer, Lisa G, Dabell, Mindy P, Fisher, Allan J, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Rosenfeld, Jill A

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound per Shaffer, Lisa G, Rosenfeld, Jill A, Dabell, Mindy P, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Fisher, Allan J

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

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome per Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements per Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine

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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 per Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.

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

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