Search Results - "Grody, WW"

Molecular Genetic Risk Screening by Grody, Wayne W

“…Under the impetus of the Human Genome Project, new disease-associated genes are being discovered at a rapid pace. Mutations in many of these genes are present…”
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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals by De Wachter, E, De Boeck, K, Sermet-Gaudelus, I, Simmonds, NJ, Munck, A, Naehrlich, L, Barben, J, Boyd, C, Veen, SJ, Carr, SB, Fajac, I, Farrell, PM, Girodon, E, Gonska, T, Grody, WW, Jain, M, Jung, A, Kerem, E, Raraigh, KS, van Koningsbruggen-Rietschel, S, Waller, MD, Southern, KW, Castellani, C

“…•Advantages and challenges of a dedicated patient registry for people with CFTR-RD.•The CFTR-RD risk for infants with a CRMS/CFSPID designation.•Peculiarities…”
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Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development by Arboleda, VA, Lee, H, Sánchez, FJ, Délot, EC, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E

“…Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. Targeted massively parallel sequencing provides comprehensive genetic…”
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Arginases I and II: do their functions overlap? by Cederbaum, Stephen D, Yu, Hong, Grody, Wayne W, Kern, Rita M, Yoo, Paul, Iyer, Ramaswamy K

“…Arginase, often perceived solely as the last of the now six enzymes of the urea cycle, exists in two forms and has a broad tissue distribution. A cytosolic…”
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Cystic fibrosis population carrier screening: Here at last—Are we ready? by Grody, Wayne W, Desnick, Robert J

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The M694V mutationinArmenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA by Ong, FS, Vakil, H, Xue, Y, Kuo, JZ, Shah, KH, Lee, RB, Bernstein, KE, Rimoin, DL, Getzug, T, Das, K, Deignan, JL, Rotter, JI, Grody, WW

“…Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of…”
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Mouse Model for Human Arginase Deficiency by Iyer, Ramaswamy K., Yoo, Paul K., Kern, Rita M., Rozengurt, Nora, Tsoa, Rosemarie, O'Brien, William E., Yu, Hong, Grody, Wayne W., Cederbaum, Stephen D.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Comparative properties of arginases by Jenkinson, Christopher P., Grody, Wayne W., Cederbaum, Stephen D.

“…Arginase is a primordial enzyme, widely distributed in the biosphere and represented in all primary kingdoms. It plays a critical role in the hepatic…”
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Quality control in molecular genetic testing by Dequeker, Elisabeth, Ramsden, Simon, Grody, Wayne W, Stenzel, Timothy T, Barton, David E

“…DNA-based testing for genetic diseases has developed from nothing into a principal part of laboratory medicine over the past 15 years. In the rush to bring…”
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The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA by Ong, FS, Vakil, H, Xue, Y, Kuo, JZ, Shah, KH, Lee, RB, Bernstein, KE, Rimoin, DL, Getzug, T, Das, K, Deignan, JL, Rotter, JI, Grody, WW

“…Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto‐inflammatory disorder characterized by recurrent attacks of…”
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Cloning and Characterization of Human Agmatinase by Iyer, Ramaswamy K., Kim, Ho K., Tsoa, Rosemarie W., Grody, Wayne W., Cederbaum, Stephen D.

“…Arginine decarboxylase (ADC) and agmatinase are part of an operon in Escherichia coli, which constitutes the primary pathway of polyamine synthesis from…”
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An electrochemical detection scheme for identification of single nucleotide polymorphisms using hairpin-forming probes by Huang, Tony Jun, Liu, Minghsun, Knight, Linda D., Grody, Wayne W., Miller, Jeff F., Ho, Chih-Ming

“…Single nucleotide polymorphisms are implicated as having a significant role in regulating growth, development and, thereby, human health and disease. We have…”
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Widespread Expression of Arginase I in Mouse Tissues: Biochemical and Physiological Implications by Yu, Hong, Yoo, Paul K, Aguirre, Claudia C, Tsoa, Rosemarie W, Kern, Rita M, Grody, Wayne W, Cederbaum, Stephen D, Iyer, Ramaswamy K

“…Arginase I (AI), the fifth and final enzyme of the urea cycle, detoxifies ammonia as part of the urea cycle. In previous studies from others, AI was not found…”
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Hematopathology: Morphology, Immunophenotype, Cytogenetics, and Molecular Approaches by Naeim, Faramarz, Rao, P. Nagesh, Grody, Wayne W

“…This comprehensive, full color hematopathology reference book emphasizes immunophenotpic features, cytogenetic studies, and diagnostic molecular aspects…”
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Expression of arginase isozymes in mouse brain by Yu, Hong, Iyer, Ramaswamy K., Kern, Rita M., Rodriguez, Williams I., Grody, Wayne W., Cederbaum, Stephen D.

“…The two forms of arginase (AI and AII) in man, identical in enzymatic function, are encoded in separate genes and are expressed differentially in various…”
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Quest for Controls in Molecular Genetics by Grody, Wayne W.

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Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing by Chen, Bin, O'Connell, Catherine D., Boone, D Joe, Amos, Jean A., Beck, Jeanne C., Chan, Maria M., Farkas, Daniel H., Lebo, Roger V., Richards, Carolyn Sue, Roa, Benjamin B., Silverman, Lawrence M., Barton, David E., Bejjani, Bassem A., Belloni, Dorothy R., Bernacki, Susan H., Caggana, Michele, Charache, Patricia, Dequeker, Elisabeth, Ferreira-Gonzalez, Andrea, Friedman, Kenneth J., Greene, Carol L., Grody, Wayne W., Highsmith, William Edward, Hinkel, Cecelia S., Kalman, Lisa V., Lubin, Ira M., Lyon, Elaine, Payne, Deborah A., Pratt, Victoria M., Rohlfs, Elizabeth, Rundell, Clark A., Schneider, Erasmus, Willey, Ann M., Williams, Laurina O., Willey, James C., Winn-Deen, Emily S., Wolff, Daynna J.

“…To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations…”
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Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation by Ogino, S, Wilson, R B, Grody, W W

“…The ultrasound finding of echogenic bowel, which is present in 0.1-0.2% of all pregnancies, may result from fetal meconium ileus and can result from cystic…”
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Alternative approaches to proficiency testing in molecular genetics by Richards, C Sue, Grody, Wayne W

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The human arginases and arginase deficiency by Iyer, R., Jenkinson, C. P., Vockley, J. G., Kern, R. M., Grody, W. W., Cederbaum, S.

“…Arginase is the final enzyme in the urea cycle. Its deficiency is the least frequently described disorder of this cycle. It results primarily in elevated blood…”
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