Search Results - "Estep, Anne L"

Germline Mutations in Genes within the MAPK Pathway Cause Cardio-Facio-Cutaneous Syndrome by Rodriguez-Viciana, Pablo, Tetsu, Osamu, Tidyman, William E., Estep, Anne L., Conger, Brenda A., Cruz, Molly Santa, McCormick, Frank, Rauen, Katherine A.

“…Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal…”
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Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy by Estep, Anne L, Palmer, Chana, McCormick, Frank, Rauen, Katherine A

“…Among gynecologic cancers, ovarian cancer is the second most common and has the highest death rate. Cancer is a genetic disorder and arises due to the…”
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HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy by Estep, Anne L., Tidyman, William E., Teitell, Michael A., Cotter, Philip D., Rauen, Katherine A.

“…Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and…”
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Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations by Rauen, Katherine A., Tidyman, William E., Estep, Anne L., Sampath, Srirangan, Peltier, Henry M., Bale, Sherri J., Lacassie, Yves

“…Cardio‐facio‐cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen‐activated protein kinase (MAPK)…”
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Identification of a robust gene signature that predicts breast cancer outcome in independent data sets by Korkola, James E, Blaveri, Ekaterina, DeVries, Sandy, Moore, 2nd, Dan H, Hwang, E Shelley, Chen, Yunn-Yi, Estep, Anne L H, Chew, Karen L, Jensen, Ronald H, Waldman, Frederic M

“…Breast cancer is a heterogeneous disease, presenting with a wide range of histologic, clinical, and genetic features. Microarray technology has shown promise…”
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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors by Anastasaki, Corina, Estep, Anne L., Marais, Richard, Rauen, Katherine A., Patton, E. Elizabeth

“…The Ras/MAPK pathway is critical for human development and plays a central role in the formation and progression of most cancers. Children born with germ-line…”
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Differentiation of lobular versus ductal breast carcinomas by expression microarray analysis by KORKOLA, James E, DEVRIES, Sandy, FRIDLYAND, Jane, HWANG, E. Shelley, ESTEP, Anne L. H, CHEN, Yunn-Yi, CHEW, Karen L, DAIRKEE, Shanaz H, JENSEN, Ronald M, WALDMAN, Frederic M

“…Invasive lobular and ductal breast tumors have distinct histologies and clinical presentation. Other than altered expression of E-cadherin, little is known…”
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Optimizing stringency for expression microarrays by Korkola, James E, Estep, Anne L, Pejavar, Sunanda, DeVries, Sandy, Jensen, Ronald, Waldman, Frederic M

“…While several studies have reported methods to optimize expression microarray protocols, none have dealt directly with hybridization wash stringency. We…”
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