Search Results - "COFFA, Jordy"

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? by Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia

“…Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). In this study we evaluated…”
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Frequent Coamplification of Receptor Tyrosine Kinase and Downstream Signaling Genes in Japanese Primary Gastric Cancer and Conversion in Matched Lymph Node Metastasis by Silva, Arnaldo N S, Coffa, Jordy, Menon, Varsha, Hewitt, Lindsay C, Das, Kakoli, Miyagi, Yohei, Bottomley, Dan, Slaney, Hayley, Aoyama, Toru, Mueller, Wolfram, Arai, Tomio, Tan, Iain B, Deng, Niantao, Chan, Xiu B, Tan, Patrick, Tsuburaya, Akira, Sakamaki, Kentaro, Hayden, Jeremy D, Yoshikawa, Takaki, Zondervan, Ilse, Savola, Suvi, Grabsch, Heike I

“…OBJECTIVE:To establish the gene copy number status of receptor tyrosine kinase (RTK) and downstream signaling (DSS) genes genes in primary gastric cancer…”
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Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? by Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia

“…[This corrects the article DOI: 10.1371/journal.pone.0187630.]…”
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Coordinated epidermal growth factor receptor pathway gene overexpression predicts epidermal growth factor receptor inhibitor sensitivity in pancreatic cancer by Jimeno, Antonio, Tan, Aik Choon, Coffa, Jordy, Rajeshkumar, N V, Kulesza, Peter, Rubio-Viqueira, Belen, Wheelhouse, Jenna, Diosdado, Begoña, Messersmith, Wells A, Iacobuzio-Donahue, Christine, Maitra, Anirban, Varella-Garcia, Marileila, Hirsch, Fred R, Meijer, Gerrit A, Hidalgo, Manuel

“…The epidermal growth factor receptor (EGFR) inhibitor erlotinib is approved for treatment of pancreatic cancer but the overall activity is minimal, and known…”
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Deletion and duplication screening in the DMD gene using MLPA by LALIC, Tanja, VOSSEN, Rolf H. A. M, COFFA, Jordy, SCHOUTEN, Jan P, GUC-SCEKIC, Marija, RADIVOJEVIC, Danijela, DJURISIC, Marina, BREUNING, Martyn H, WHITE, Stefan J, DEN DUNNEN, Johan T

“…We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications…”
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MLPAnalyzer: data analysis tool for reliable automated normalization of MLPA fragment data by Coffa, Jordy, van de Wiel, Mark A, Diosdado, Begoña, Carvalho, Beatriz, Schouten, Jan, Meijer, Gerrit A

“…Multiplex Ligation dependent Probe Amplification (MLPA) is a rapid, simple, reliable and customized method for detection of copy number changes of individual…”
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Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer by Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia

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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer by Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, D. Schwartz, Ida Vanessa, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia

“…Background Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). Methods In this…”
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High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers by Buffart, Tineke E., van Grieken, Nicole C. T., Tijssen, Marianne, Coffa, Jordy, Ylstra, Bauke, Grabsch, Heike I., van de Velde, Cornelis J. H., Carvalho, Beatriz, Meijer, Gerrit A.

“…DNA copy-number gains of chromosomes 8q, 13q, and 20q are frequently observed in gastric cancers. Moreover gain of chromosome 20q has been associated with…”
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MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data by Coffa, Jordy, van de Wiel, Mark A., Diosdado, Begoña, Carvalho, Beatriz, Schouten, Jan, Meijer, Gerrit A.

“…Background : Multiplex Ligation dependent Probe Amplification (MLPA) is a rapid, simple, reliable and customized method for detection of copy number changes of…”
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Coamplification of receptor tyrosine kinases and downstream targets in Japanese gastric cancers by Silva, Arnaldo Neves Santos, Coffa, Jordy, Miyagi, Yohei, Menon, Varsha, Bottomley, Daniel, Ward, Lindsay C., Aoyama, Toru, Hayden, Jeremy D., Arai, Tomio, Tan, Iain BeeHuat, Deng, NianTao, Chan, Xiu Bin, Lin, Suling Joyce, Tan, Patrick, Yoshikawa, Takaki, Zondervan, Ilse, Savola, Suvi, Grabsch, Heike I.

“…Abstract only 41 Background: Amplifications of receptor tyrosine kinases genes (RTKs), EGFR, ERBB2, FGFR2, MET, have been associated with the pathogenesis and…”
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Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study by Jankowski, Stéphane, Currie-Fraser, Erica, Xu, Licen, Coffa, Jordy

“…Annotated DNA samples that had been previously analyzed were tested using multiplex ligation-dependent probe amplification (MLPA) assays containing probes…”
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Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil by Cossio, Silvia Liliana, Koehler-Santos, Patricia, Pessini, Suzana Arenhart, Mónego, Heleuza, Edelweiss, Maria Isabel, Meurer, Luise, Errami, Abdellatif, Coffa, Jordy, Bock, Hugo, Saraiva-Pereira, Maria Luiza, Ashton-Prolla, Patricia, Prolla, João Carlos

“…Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1 , MSH2 ,…”
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Mutagenic effect of cadmium on tetranucleotide repeats in human cells by Slebos, Robbert J C, Li, Ming, Evjen, Amy N, Coffa, Jordy, Shyr, Yu, Yarbrough, Wendell G

“…Cadmium is a human carcinogen that affects cell proliferation, apoptosis and DNA repair processes that are all important to carcinogenesis. We previously…”
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Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions by Grati, Francesca R., Chinetti, Sara, Malgara, Roberta, Rognoni, Giulia, Grimi, Beatrice, De Toffol, Simona, Milani, Silvia, Dulcetti, Francesca, Frascoli, Giuditta, Di Meco, Anna Maria, Liuti, Rosaria, Trotta, Anna, Coffa, Jordy, Maggi, Federico, Simoni, Giuseppe

“…Pericentric inversion carriers are predisposed to produce unbalanced gametes that result in conceptuses having either a partial trisomy for one distal segment…”
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