Search Results - "Mowrey, Philip"

Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing by Salpea, Paraskevi, Horvath, Anelia, London, Edra, Faucz, Fabio R, Vetro, Annalisa, Levy, Isaac, Gourgari, Evgenia, Dauber, Andrew, Holm, Ingrid A, Morrison, Patrick J, Keil, Margaret F, Lyssikatos, Charalampos, Smith, Eric D, Sanidad, Marc A, Kelly, JoAnn C, Dai, Zunyan, Mowrey, Philip, Forlino, Antonella, Zuffardi, Orsetta, Stratakis, Constantine A

“…Background: Carney complex (CNC) is a multiple neoplasia syndrome caused by PRKAR1A-inactivating mutations. One-third of the patients, however, have no…”
Get full text

Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas by Dai, Zunyan, Kelly, Joann C, Meloni-Ehrig, Aurelia, Slovak, Marilyn L, Boles, Debra, Christacos, Nicole C, Bryke, Christine R, Schonberg, Steven A, Otani-Rosa, Jennifer, Pan, Qiulu, Ho, Albert K, Sanders, Heather R, Zhang, Zhong J, Jones, Dan, Mowrey, Philip N

“…Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements have been reported in 2-13% of patients with non-small cell lung cancer (NSCLC)…”
Get full text

Comprehensive Workup of Myelodysplastic Syndromes: Comparing Targeted DNA Sequencing, Oligo/SNP Microarray and Higher Dimensional Flow Cytometry by Slovak, Marilyn L, Hsu, Ya-Hsuan, Chen, Hseuh-Hua, Wang, Yongbao, Mowrey, Philip N, Repetti, Charles, Ho, Albert K, Pan, Qiulu, Bansal, Ila, Jones, Dan

“…Abstract 2519 The myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematopoietic diseases characterized by ineffective hematopoiesis,…”
Get full text

Microarray-Based Genomic Profiling Facilitates Genetic Subgrouping and Detects Critical Submicroscopic Aberrations Associated with Prognosis in Pediatric Acute Lymphoblastic Leukemia (ALL) by Slovak, Marilyn L, Hsu, Ya-Hsuan, Otani-Rosa, Jennifer A, Jahn, Jennifer A, Dai, Zunyan, Sanidad, Marc, Mowrey, Philip N, Jones, Dan

“…Abstract 1444 Risk-adapted therapeutic categories in acute lymphoblastic leukemia (ALL) take into account several key parameters, including cytogenetics…”
Get full text

A case of lipoblastoma with seven copies of chromosome 8 by Meloni-Ehrig, Aurelia M, Riggott, Laura, Christacos, Nicole C, Mowrey, Philip N, Johal, Jasbir

Get full text

Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia by Kelly, JoAnn C, Shahbazi, Nasrin, Scheerle, Jay, Jahn, Jennifer, Suchen, Stephany, Christacos, Nicole C, Mowrey, Philip N, Witt, Mary H, Hostetter, Alden, Meloni-Ehrig, Aurelia M

“…Abstract We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL ; 12p13) genes, detectable…”
Get full text

A rare finding of deletion 5q in a child with juvenile myelomonocytic leukemia by Meck, Jeanne M, Otani-Rosa, Jennifer A, Neuberg, Ronnie W, Welsh, Jeffrey A, Mowrey, Philip N, Meloni-Ehrig, Aurelia M

Get full text

A novel t(10;12)(q21;p13) involving ETV6 in a patient with acute myeloid leukemia by Sowa, Anna S, Meloni-Ehrig, Aurelia M, Tos, April, Jahn, Jennifer, Dogra, Shalini, Nava, Victor E, Kelly, JoAnn C, Mowrey, Philip N

Get full text

Deletion 6p as the sole chromosome abnormality in a patient with therapy-related myelodysplastic syndrome: case report and review of the literature by Meloni-Ehrig, Aurelia M, Alexander, Elizabeth, Nathan, Sathia V, Ahmed, Mohamed S, Smith, Eric D, Scheerle, Jay A, Kelly, Joey C, Meck, Jeanne M, Mowrey, Philip N

Get full text

Stimulation of B-Cell Mature Malignancies with the CpG-Oligonucleotide DSP30 and Interleukin-2 for Improved Detection of Chromosome Abnormalities by Meloni-Ehrig, Aurelia, Meck, Jeanne, Christacos, Nicole, Kelly, JoAnn, Matyakhina, Ludmila, Schonberg, Steven, Gorman, Bruce, Babu, Ramesh, Stone, Patricia, Gersen, Steven, Ganezer, Alma, Giacobbe, Tracy, Brailey, Lisa, Novick, Connie, Otani, Jennifer, Shahbazi, Nasrin, Croft, Calvin, Perez, Rafael, Mowrey, Philip

“…Abstract 1955 Poster Board I-978 The detection of chromosome abnormalities in mature B-cell neoplasms by conventional cytogenetics remains difficult, mainly…”
Get full text

Isolated del(14)(q21) in a case of precursor B-cell acute lymphoblastic leukemia by Meloni-Ehrig, Aurelia M., Tirado, Carlos A., Chen, Kuoping, Jahn, Jennifer, Suchan, Stephany, Scheerle, Jay, Crosby, Maria Gabriela, Meany, Holly, Seibel, Nita, Leitenberg, David, Heritage, Deborah W., Mowrey, Philip N.

“…We present a case of del(14)(q21) as a sole abnormality in a 4-year-old boy diagnosed with precursor B-cell acute lymphoblastic leukemia (pre-B ALL). To our…”
Get full text

Variant acute promyelocytic leukemia translocation (15;17) originating from two subsequent balanced translocations involving the same chromosomes 15 and 17 while preserving the PML/RARA fusion by Tirado, Carlos A., Jahn, Jennifer A., Scheerle, Jay, Eid, Maya, Meister, Robert J., Christie, Robert J., Croft, Calvin D., Wallingford, Steven, Heritage, Deborah W., Mowrey, Philip N., Meloni-Ehrig, Aurelia M.

“…Fluorescence in situ hybridization (FISH) analysis of the bone marrow of a 24-year-old man diagnosed with acute promyelocytic leukemia (APL) revealed a variant…”
Get full text

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes by Pettenati, Mark J., Von Kap-Herr, Chris, Jackle, Bethy, Bobby, Peggy, Mowrey, Philip, Schwartz, Stuart, Nagesh Rao, P., Rosnes, Jon

“…Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of…”
Get full text

Neurologic manifestations in 18q- syndrome by Miller, G, Mowrey, P N, Hopper, K D, Frankel, C A, Ladda, R L

“…We report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q- syndrome. In addition, both have an action tremor which…”
Get more information

Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma by Meloni-Ehrig, Aurelia, Smith, Bridget, Zgoda, JoAnna, Greenberg, Jay, Perdahl-Wallace, Eva, Zaman, Syed, Mowrey, Philip

“…Abstract We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2;8)(q35;q13) in a…”
Get full text

Short communication: Translocation (2; 8)(q35; q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma by Meloni-Ehrig, Aurelia, Smith, Bridget, Zgoda, Joanna, Greenberg, Jay, Perdahl-Wallace, Eva, Zaman, Syed, Mowrey, Philip

“…We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2; 8)(q35; q13) in a…”
Get full text

Letter to the editor: A case of lipoblastoma with seven copies of chromosome 8 by Meloni-Ehrig, Aurelia M, Riggott, Laura, Christacos, Nicole C, Mowrey, Philip N, Johal, Jasbir

Get full text

Dissection of a contiguous gene syndrome: Clinical and molecular analyses of the del(3p) syndrome by Mowrey, Philip Nelson

“…Deletion (3)(p25pter) is associated with repeating dysmorphic features and profound multisystem developmental failure. Review of all published cases and three…”
Get full text

Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation by Erdag, Gulsun, Meck, Jeanne M, Meloni-Ehrig, Aurelia, Matyakhina, Ludmila, Donohue, Theresa, Srinivasan, Ramaprasad, Mowrey, Philip, Kelly, JoAnn, Smith, Aleah, Childs, Richard

“…Abstract We describe the cases of two unrelated patients who exhibited multiple chromosomal abnormalities in donor cells after allogeneic peripheral blood stem…”
Get full text

46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis by Venditti, C P, Seese, N K, Gerhard, G S, Ten Elshof, A E, Chorney, K A, Mowrey, P N, Lacey, P G, Knoll, J H, Chorney, M J

“…Hereditary haemochromatosis (HFE) is a recessive genetic disease of iron overload which has been shown by linkage analysis to reside on the short arm of…”
Get full text