Search Results - "Rohlfs, Elizabeth M"

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens by SUGARMAN, Elaine A, NAGAN, Narasimhan, ALLITTO, Bernice A, HUI ZHU, AKMAEV, Viatcheslav R, ZHAOQING ZHOU, ROHLFS, Elizabeth M, FLYNN, Kerry, HENDRICKSON, Brant C, SCHOLL, Thomas, ALEXA SIRKO-OSADSA, Deborah

“…Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic…”
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Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population by ROHLFS, Elizabeth M, ZHAOQING ZHOU, SUGARMAN, Elaine A, HEIM, Ruth A, NAGAN, Narasimhan, ROSENBLUM, Lynne S, FLYNN, Kerry, SCHOLL, Thomas, AKMAEV, Viatcheslav R, SIRKO-OSADSA, D. Alexa, ALLITTO, Bernice A

“…The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range…”
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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel by Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.

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Prevalence and Instability of Fragile X Alleles: Implications for Offering Fragile X Prenatal Diagnosis by Cronister, Amy, Teicher, Jennifer, Rohlfs, Elizabeth M., Donnenfeld, Alan, Hallam, Stephanie

“…To document fragile X allele frequencies in a national referral population and evaluate CGG repeat expansion in mother-offspring transmissions. Fragile X DNA…”
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Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer by Shaheen, Nicholas J., Silverman, Lawrence M., Keku, Temitope, Lawrence, Laura B., Rohlfs, Elizabeth M., Martin, Christopher F., Galanko, Joseph, Sandler, Robert S.

“…Background: Iron is a pro-oxidant that may promote carcinogenesis. Mutations in the hemochromatosis (HFE) gene are associated with increased total body iron…”
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CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations by Sugarman, Elaine A., Rohlfs, Elizabeth M., Silverman, Lawrence M., Allitto, Bernice A.

“…Purpose: We reviewed CFTR mutation distribution among Hispanic and African American individuals referred for CF carrier screening and compared mutation…”
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Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent by Kalman, Lisa, Wilson, Jean Amos, Buller, Arlene, Dixon, John, Edelmann, Lisa, Geller, Louis, Highsmith, William Edward, Holtegaard, Leonard, Kornreich, Ruth, Rohlfs, Elizabeth M, Payeur, Toby L, Sellers, Tina, Toji, Lorraine, Muralidharan, Kasinathan

“…Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American…”
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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study by Amos Wilson, Jean, Pratt, Victoria M, Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C, Bridgeman, Scott, Courtney, Ebony M, Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L, Holtegaard, Leonard M, Jama, Mohamed A, Jakupciak, John P, Johnson, Monique A, Labrousse, Paul, Lyon, Elaine, Prior, Thomas W, Richards, C. Sue, Richie, Kristy L, Roa, Benjamin B, Rohlfs, Elizabeth M, Sellers, Tina, Sherman, Stephanie L, Siegrist, Karen A, Silverman, Lawrence M, Wiszniewska, Joanna, Kalman, Lisa V

“…Fragile X syndrome, which is caused by expansion of a (CGG)n repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental…”
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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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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis by Rohlfs, Elizabeth M., Zhou, Zhaoqing, Sugarman, Elaine A., Heim, Ruth A., Pace, Rhonda G., Knowles, Michael R., Silverman, Lawrence M., Allitto, Bernice A.

“…Purpose: To determine whether CFTR intragenic changes modulate the cystic fibrosis (CF) phenotype in individuals who are positive for the I148T allele…”
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Development of genomic reference materials for Huntington disease genetic testing by Kalman, Lisa, Johnson, Monique A, Beck, Jeanne, Berry-Kravis, Elizabeth, Buller, Arlene, Casey, Brett, Feldman, Gerald L, Handsfield, James, Jakupciak, John P, Maragh, Samantha, Matteson, Karla, Muralidharan, Kasinathan, Richie, Kristy L, Rohlfs, Elizabeth M, Schaefer, Frederick, Sellers, Tina, Spector, Elaine, Richards, C Sue

“…Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing…”
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Regulation of the Uncoupling Protein Gene (Ucp) by β1, β2, and β3-Adrenergic Receptor Subtypes in Immortalized Brown Adipose Cell Lines by Rohlfs, Elizabeth M., Daniel, Kiefer W., Premont, Richard T., Kozak, Leslie P., Collins, Sheila

“…Immortalized brown adipocyte cell lines derived from a mouse hibernoma express all three β-adrenergic receptor subtypes, including β3-adrenergic receptor (AR)…”
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Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis by Rohlfs, Elizabeth M, Learning, William G, Friedman, Kenneth J, Couch, Fergus J, Weber, Barbara L, Silverman, Lawrence M

“…The tumor suppressor genes BRCA1 and BRCA2, which confer increased susceptibility to breast and (or) ovarian cancer, were recently identified. Mutation…”
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Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses by Rohlfs, Elizabeth M., Weinblatt, Vivian J., Treat, Karen J., Sugarman, Elaine A.

“…Purpose: To evaluate and quantify indications for CFTR mutation analysis of prenatal specimens, and to determine if a significant portion of tests are…”
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Simultaneous detection of multiple point mutations using allele-specific oligonucleotides by Napolitano, Nichole M, Rohlfs, Elizabeth M, Heim, Ruth A

“…This unit describes high-throughput mutation analysis using hybridization with pooled allele-specific oligonucleotide (ASO) probes. The approach can be used to…”
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Quantitative Comparison of BCR/ABL Transcript Levels in Bone Marrow and Peripheral Blood Specimens from Patients with Minimal Residual Disease by Faulkner, Nicole E., Sirko-Osadsa, D. Alexa, Rosenblum-Vos, Lynne S., Rohlfs, Elizabeth M., Browne, Patrick, Hallam, Stephanie E.

“…Chronic Myeloid Leukemia (CML) is diagnosed by the presence of the Philadelphia chromosome (Ph+). The number of cells containing the bcr/abl chromosomal…”
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An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 by Rohlfs, Elizabeth M., Puget, Nadine, Graham, Mark L., Weber, Barbara L., Garber, Judy E., Skrzynia, Cecilé, Halperin, Joseph L., Lenoir, Gilbert M., Silverman, Lawrence M., Mazoyer, Sylvie

“…Constitutive large deletions and duplications of BRCA1 resulting from Alu‐mediated recombination account for a significant proportion of disease‐causing…”
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Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples by Bernacki, Susan H, Beck, Jeanne C, Stankovic, Ana K, Williams, Laurina O, Amos, Jean, Snow-Bailey, Karen, Farkas, Daniel H, Friez, Michael J, Hantash, Feras M, Matteson, Karla J, Monaghan, Kristin G, Muralidharan, Kasinathan, Pratt, Victoria M, Prior, Thomas W, Richie, Kristy L, Levin, Barbara C, Rohlfs, Elizabeth M, Schaefer, Frederick V, Shrimpton, Antony E, Spector, Elaine B, Stolle, Catherine A, Strom, Charles M, Thibodeau, Stephen N, Cole, Eugene C, Goodman, Barbara K, Stenzel, Timothy T

“…Positive control materials for clinical diagnostic molecular genetic testing are in critically short supply. High-quality DNA that closely resembles DNA…”
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Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population by Crawford, Dana C., Schwartz, Charles E., Meadows, Kellen L., Newman, James L., Taft, Lisa F., Gunter, Chris, Brown, W. Ted, Carpenter, Nancy J., Howard-Peebles, Patricia N., Monaghan, Kristin G., Nolin, Sarah L., Reiss, Allan L., Feldman, Gerald L., Rohlfs, Elizabeth M., Warren, Stephen T., Sherman, Stephanie L.

“…Previous studies have shown that specific short-tandem-repeat (STR) and single-nucleotide-polymorphism (SNP)–based haplotypes within and among unaffected and…”
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Are “Hemochromatosis gene” mutations a risk factor for type 2 diabetes? by Shaheen, Nicholas J., Silverman, Lawrence M., Lawrence, Laura B., Rohlfs, Elizabeth M., Buse, John B., Sandler, Robert S.

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