Search Results - "Ivanovich, Jennifer L"

Papillon-Lefevre Syndrome: Correlating the Molecular, Cellular, and Clinical Consequences of Cathepsin C/Dipeptidyl Peptidase I Deficiency in Humans by Pham, Christine T. N, Ivanovich, Jennifer L, Raptis, Sofia Z, Zehnbauer, Barbara, Ley, Timothy J

“…A variety of neutral serine proteases are important for the effector functions of immune cells. The neutrophil-derived serine proteases cathepsin G and…”
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Perceptions of genetic risk assessment and education among first-degree relatives of colorectal cancer patients and implications for physicians by Todora, Helen MS, Skinner, Celette Sugg, Gidday, Linda, Ivanovich, Jennifer L, Rawl, Sue, Whelan, Alison J

“…Background. Genetic risk assessment and education is a clinical service that provides an opportunity for individuals with a strong family history of cancer to…”
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Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A by Wells, Jr, S A, Chi, D D, Toshima, K, Dehner, L P, Coffin, C M, Dowton, S B, Ivanovich, J L, DeBenedetti, M K, Dilley, W G, Moley, J F

“…Missense germ-line mutations in the RET protooncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A). Detection of these mutant alleles in…”
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MSI in endometrial carcinoma: Absence of MLH1 promoter methylation is associated with increased familial risk for cancers by Whelan, Alison J., Babb, Sheri, Mutch, David G., Rader, Janet, Herzog, Thomas J., Todd, Christina, Ivanovich, Jennifer L., Goodfellow, Paul J.

“…Loss of DNA mismatch repair occurs in a variety of malignancies and is associated with genome‐wide instability of microsatellite repeats, a molecular phenotype…”
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Papillon-Lefèvre Syndrome: Correlating the Molecular, Cellular, and Clinical Consequences of Cathepsin C/Dipeptidyl Peptidase I Deficiency in Humans by Pham, Christine T. N., Ivanovich, Jennifer L., Raptis, Sofia Z., Zehnbauer, Barbara, Ley, Timothy J.

“…A variety of neutral serine proteases are important for the effector functions of immune cells. The neutrophil-derived serine proteases cathepsin G and…”
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Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA by Wicklow, Brandy A., Ivanovich, Jennifer L., Plews, Margot M., Salo, Timothy J., Noetzel, Michael J., Lueder, Gregg T., Cartegni, Luca, Kaback, Michael M., Sandhoff, Konrad, Steiner, Robert D., Triggs-Raine, Barbara L.

“…We have characterized the molecular basis of β‐hexosaminidase A (HEX A) deficiency in a patient ascertained through an ophthalmologic examination that revealed…”
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Genome remodelling in a basal-like breast cancer metastasis and xenograft by Wilson, Richard K, Ding, Li, Ellis, Matthew J, Li, Shunqiang, Larson, David E, Chen, Ken, Wallis, John W, Harris, Christopher C, McLellan, Michael D, Fulton, Robert S, Fulton, Lucinda L, Abbott, Rachel M, Hoog, Jeremy, Dooling, David J, Koboldt, Daniel C, Schmidt, Heather, Kalicki, Joelle, Zhang, Qunyuan, Chen, Lei, Lin, Ling, Wendl, Michael C, McMichael, Joshua F, Magrini, Vincent J, Cook, Lisa, McGrath, Sean D, Vickery, Tammi L, Appelbaum, Elizabeth, DeSchryver, Katherine, Davies, Sherri, Guintoli, Therese, Lin, Li, Crowder, Robert, Tao, Yu, Snider, Jacqueline E, Smith, Scott M, Dukes, Adam F, Sanderson, Gabriel E, Pohl, Craig S, Delehaunty, Kim D, Fronick, Catrina C, Pape, Kimberley A, Reed, Jerry S, Robinson, Jody S, Hodges, Jennifer S, Schierding, William, Dees, Nathan D, Shen, Dong, Locke, Devin P, Wiechert, Madeline E, Eldred, James M, Peck, Josh B, Oberkfell, Benjamin J, Lolofie, Justin T, Du, Feiyu, Hawkins, Amy E, O’Laughlin, Michelle D, Bernard, Kelly E, Cunningham, Mark, Elliott, Glendoria, Mason, Mark D, Thompson Jr, Dominic M, Ivanovich, Jennifer L, Goodfellow, Paul J, Perou, Charles M, Weinstock, George M, Aft, Rebecca, Watson, Mark, Ley, Timothy J, Mardis, Elaine R

“…Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumour…”
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A practical approach to familial and hereditary colorectal cancer by Ivanovich, J L, Read, T E, Ciske, D J, Kodner, I J, Whelan, A J

“…Recent genetic research has isolated the primary genetic defect underlying many of the hereditary colorectal cancer syndromes. Obtaining a detailed family…”
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An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root by Ivanovich, Jennifer L., Watson, Michael S., Whelan, Alison J.

“…Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning…”
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Revisiting the Role of Genetics Assessment among Patients Evaluated in a Colorectal Surgery Practice by Ivanovich, Jennifer L., Whelan, Alison J.

“…Physicians have been inundated with news as to how advances in genetics, and developments in genetic technology, will alter their daily practice. While it is…”
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MSI in endometrial carcinoma: Absence of MLHI promoter methylation is associated with increased familial risk for cancers by WHELAN, Alison J, BABB, Sheri, MUTCH, David G, RADER, Janet, HERZOG, Thomas J, TODD, Christina, IVANOVICH, Jennifer L, GOODFELLOW, Paul J

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Severe subacute G M2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA by Wicklow, Brandy A., Ivanovich, Jennifer L., Plews, Margot M., Salo, Timothy J., Noetzel, Michael J., Lueder, Gregg T., Cartegni, Luca, Kaback, Michael M., Sandhoff, Konrad, Steiner, Robert D., Triggs‐Raine, Barbara L.

“…We have characterized the molecular basis of β‐hexosaminidase A (HEX A) deficiency in a patient ascertained through an ophthalmologic examination that revealed…”
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Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability by Herfarth, Klaus K.-F., Kodner, Ira J., Whelan, Alison J., Ivanovich, Jennifer L., Bracamontes, John R., Wells Jr, Samuel A., Goodfellow, Paul J.

“…The microsatellite instability that is a feature of tumors in patients with hereditary nonpolyposis colorectal cancer (HNPCC) is a consequence of defective DNA…”
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Cancer and Peutz‐Jeghers Syndrome: A Review by Ivanovich, Jennifer L., Whelan, Alison J.

“…Peutz‐Jeghers syndrome is a dominantly inherited polyposis syndrome characterized by hamartomatous polyps of the gastrointestinal tract and pigmented lesions…”
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Mutations inMLH1 are more frequent than inMSH2 in sporadic colorectal cancers with microsatellite instability by Herfarth, Klaus K.-F., Kodner, Ira J., Whelan, Alison J., Ivanovich, Jennifer L., Bracamontes, John R., Wells, Samuel A., Goodfellow, Paul J.

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