Search Results - "Buller, Arlene M"

Annotation error of a common β°‐thalassemia mutation (619 bp‐deletion) has implications for molecular diagnosis by Pritchard, Colin C., Tait, Jonathan F., Buller‐Burckle, Arlene M., Mikula, Mario

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The challenge of using SNPs in the understanding and treatment of disease by Schifreen, Richard S, Storts, Douglas R, Buller, Arlene M

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Higher detection rate of JAK2 mutation using plasma by Ma, Wanlong, Kantarjian, Hagop, Zhang, Xi, Sun, Weimin, Buller, Arlene M., Jilani, Iman, Schwartz, Joyce G., Giles, Francis, Albitar, Maher

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Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing by Pratt, Victoria M, Caggana, Michele, Bridges, Christina, Buller, Arlene M, DiAntonio, Lisa, Highsmith, W. Edward, Holtegaard, Leonard M, Muralidharan, Kasinathan, Rohlfs, Elizabeth M, Tarleton, Jack, Toji, Lorraine, Barker, Shannon D, Kalman, Lisa V

“…The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and…”
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Development of a Genomic DNA Reference Material Panel for Rett Syndrome ( MECP2 -Related Disorders) Genetic Testing by Kalman, Lisa V, Tarleton, Jack C, Percy, Alan K, Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D, Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M, Das, Soma, Iyer, Ramaswamy K, Vo, Timothy D, Zvereff, Val V, Toji, Lorraine H

“…Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the…”
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Secondary Mutation (c.94_95delAG) in A −α 3.7 Allele Associated with Hb H Disease in Two Unrelated African American Individuals Homozygous for the −α 3.7 Deletion (−α 3.7 /−α 3.7T ) by Zhao, Po, Buller-Burckle, Arlene M., Peng, Mei, Anderson, Alison, Han, Z. Jenny, Gallivan, Monica V.E.

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Secondary Mutation (c.94_95delAG) in A −α3.7 Allele Associated with Hb H Disease in Two Unrelated African American Individuals Homozygous for the −α3.7 Deletion (−α3.7/−α3.7T) by Zhao, Po, Buller-Burckle, Arlene M., Peng, Mei, Anderson, Alison, Han, Z. Jenny, Gallivan, Monica V.E.

“…Hb H disease is rarely seen in individuals of African descent although α-thalassemia (α-thal) is common in this population. Usually α-thal is due either to…”
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The Roles of 5′-HS2, 5′-HS3, and the γ-Globin TATA, CACCC, and Stage Selector Elements in Suppression of β-Globin Expression in Early Development by Thanh Giang Sargent, Charles C. DuBois, Arlene M. Buller, Joyce A. Lloyd

“…The roles of HS2 and HS3 from the human β-globin locus control region and of the TATA, CACCC, and stage selector elements of the γ-globin promoter, in…”
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The roles of 5'-HS2, 5'-HS3, and the gamma-globin TATA, CACCC, and stage selector elements in suppression of beta-globin expression in early development by Sargent, T G, DuBois, C C, Buller, A M, Lloyd, J A

“…The roles of HS2 and HS3 from the human beta-globin locus control region and of the TATA, CACCC, and stage selector elements of the gamma-globin promoter, in…”
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Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T) by Zhao, Po, Buller-Burckle, Arlene M, Peng, Mei, Anderson, Alison, Han, Z Jenny, Gallivan, Monica V E

“…Hb H disease is rarely seen in individuals of African descent although α-thalassemia (α-thal) is common in this population. Usually α-thal is due either to…”
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A Combination of Hydroxyurea and Isobutyramide to Induce Fetal Hemoglobin in Transgenic Mice Is More Hematotoxic Than the Individual Agents by Buller, Arlene M, Elford, Howard L, DuBois, Charles C, Meyer, Joanne, Lloyd, Joyce A

“…Pharmacologic agents such as hydroxyurea (HU), N, 3–4 trihydroxybenzamide (didox), and isobutyramide (ISB) can elevate γ-globin as a potential treatment for…”
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The gamma-globin promoter has a major role in competitive inhibition of beta-globin gene expression in early erythroid development by Sargent, T G, Buller, A M, Teachey, D T, McCanna, K S, Lloyd, J A

“…The human gamma-globin gene competitively inhibits beta-globin gene expression in early erythroid development. To identify the gamma-globin gene sequences…”
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Genetic changes in solid tumors by Barcus, Mary E., Ferreira-Gonzalez, Andrea, Buller, Arlene M., Wilkinson, David S., Garrett, Carleton T.

“…Although most solid tumors are treated surgically, determining the genetic changes present in the tumor of an individual patient is becoming increasingly…”
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Annotation error of a common β°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis by Pritchard, Colin C, Tait, Jonathan F, Buller-Burckle, Arlene M, Mikula, Mario

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