Search Results - "Buzin, Carolyn H"

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations by GONZALEZ, Kelly D, NOLTNER, Katie A, WEITZEL, Jeffrey N, BUZIN, Carolyn H, DONGQING GU, WEN-FONG, Cindy Y, NGUYEN, Vu Q, HAN, Jennifer H, LOWSTUTER, Katrina, LONGMATE, Jeffrey, SOMMER, Steve S

“…A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in…”
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Evidence for X-chromosomal schizophrenia associated with microRNA alterations by Feng, Jinong, Sun, Guihua, Yan, Jin, Noltner, Katie, Li, Wenyan, Buzin, Carolyn H, Longmate, Jeff, Heston, Leonard L, Rossi, John, Sommer, Steve S

“…Schizophrenia is a severe disabling brain disease affecting about 1% of the population. Individual microRNAs (miRNAs) affect moderate downregulation of gene…”
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Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer by Chen, Zhenbin, Feng, Jinong, Buzin, Carolyn H, Liu, Qiang, Weiss, Lawrence, Kernstine, Kemp, Somlo, George, Sommer, Steve S

“…Tumor DNA has been shown to be present both in circulating tumor cells in blood and as fragments in the plasma of metastatic cancer patients. The…”
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events by Chen, Zhenbin, Feng, Jinong, Buzin, Carolyn H, Sommer, Steve S

“…Evidence strongly suggests that spontaneous doublet mutations in normal mouse tissues generally arise from chronocoordinate events. These chronocoordinate…”
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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide by Buzin, Carolyn H., Feng, Jinong, Yan, Jin, Scaringe, William, Liu, Qiang, den Dunnen, Johan, Mendell, Jerry R., Sommer, Steve S.

“…An analysis of mutations was performed in 141 Duchenne muscular dystrophy (DMD) patients previously found to be negative for large deletions by standard…”
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Conversion Analysis for Mutation Detection in MLH1 and MSH2 in Patients With Colorectal Cancer by Casey, Graham, Lindor, Noralane M, Papadopoulos, Nickolas, Thibodeau, Stephen N, Moskow, John, Steelman, Scott, Buzin, Carolyn H, Sommer, Steve S, Collins, Christine E, Butz, Malinda, Aronson, Melyssa, Gallinger, Steven, Barker, Melissa A, Young, Joanne P, Jass, Jeremy R, Hopper, John L, Diep, Anh, Bapat, Bharati, Salem, Michael, Seminara, Daniela, Haile, Robert, Colon Cancer Family Registry, for the

“…CONTEXT The accurate identification and interpretation of germline mutations in mismatch repair genes in colorectal cancer cases is critical for clinical…”
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Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy by Feng, Jinong, Yan, Jin, Buzin, Carolyn H, Towbin, Jeffrey A, Sommer, Steve S

“…Dilated cardiomyopathy (DCM) is the major indication for heart transplantation. Approximately 30% of all DCM is thought to be inherited, while 70% is sporadic…”
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Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy by Feng, Jinong, Yan, Jin, Buzin, Carolyn H, Sommer, Steve S, Towbin, Jeffrey A

“…The goal of this study was to perform comprehensive mutation analysis of the dystrophin gene in patients with X-linked dilated cardiomyopathy (XLCM). X-linked…”
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Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD) by Yan, Jin, Feng, Jinong, Buzin, Carolyn H., Scaringe, William, Liu, Qiang, Mendell, Jerry R., Dunnen, Johan den, Sommer, Steve S.

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Comprehensive scanning of the ATM gene with DOVAM-S by Buzin, Carolyn H., Gatti, Richard A., Nguyen, Vu Q., Wen, Cindy Y., Mitui, Midori, Sanal, Ozden, Chen, Jie Sheng, Nozari, Guity, Mengos, April, Li, Xuemin, Fujimura, Frank, Sommer, Steve S.

“…Mutation detection at the ATM locus has been difficult because of the large size of the gene (66 exons), the fact that mutations are located throughout the…”
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Low Frequency of p53 Gene Mutations in Breast Cancers of Japanese-American Women by Buzin, Carolyn H., Tang, Shih-Huey E., Cunningham, Julie M., Shibata, Atsuko, Ross, Ronald K., Hartmann, Arndt, Blaszyk, Hagen, Kovach, John S.

“…Differences in frequencies and patterns of somatic p53 gene mutations among racially and geographically diverse populations presumably reflect exposure to…”
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Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes by Feng, Jinong, Buzin, Carolyn H., Tang, Shih-Huey E., Scaringe, William A., Sommer, Steve S.

“…Restriction endonuclease fingerprinting (REF), a hybrid modification of single‐strand conformation polymorphism (SSCP) and restriction endonuclease digestion,…”
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NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients by Buzin, Carolyn H., Neckelmann, Christian, Gasper, Melissa, Barba, Juliana O., Scaringe, William A., Sommer, Steve S.

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ATM missense mutations are frequent inpatients with breast cancer by Sommer, Steve S, Jiang, Zefei, Feng, Jinong, Buzin, Carolyn H, Zheng, Jian, Longmate, Jeffrey, Jung, Mira, Moulds, Jefferson, Dritschilo, Anatoly

“…Ataxia telangiectasia (A-T), an autosomal recessive neuro-immunologic disease with cancer susceptibility, results from ATM gene mutations. Most mutations in…”
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Reply to J. Tinat et al by Gonzalez, Kelly D.F., Buzin, Carolyn H., Weitzel, Jeffrey N., Sommer, Steve S.

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MitoDx: Massively parallel sequencing of the mitochondrial genome may diagnose mitochondrial disease without invasive biopsies by Sommer⁎, Steve S., Buzin, Carolyn H., Scaringe, William A., Lo, Hsin-Lung, Petersen, Charles E.

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Induction of heat shock gene expression without heat shock by hepatocarcinogens and during hepatic regeneration in rat liver by Carr, B I, Huang, T H, Buzin, C H, Itakura, K

“…We investigated the expression of the rat hepatic heat-shock protein (hsp) genes under the influence of hepatocarcinogens and during hepatic regeneration. This…”
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Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls by Sommer, Steve S., Buzin, Carolyn H., Jung, Mira, Zheng, Jian, Liu, Qiang, Jeong, Sook J., Moulds, Jefferson, Nguyen, Vu Q., Feng, Jinong, Bennett, William P., Dritschilo, Anatoly

“…Studies of families of patients with ataxia telangiectasia (A-T) show an increased risk of breast cancer in heterozygous A-T carriers. However, expected…”
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Absence of somatic ATM missense mutations in 58 mammary carcinomas by Feng, Jinong, Yan, Jin, Chen, Jiesheng, Schlake, Gudrun, Jiang, Zefei, Buzin, Carolyn H., Sommer, Steve S., Dritschilo, Anatoly

“…Accumulating evidence indicates that germline missense mutations in the ATM gene predispose to breast cancer. To investigate the potential role of somatic ATM…”
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The effect of 5-azacytidine and cytidine analogs onDrosophila melanogaster cells in culture by Bournias-Vardiabasis, Nicole, Buzin, Carolyn H., Reilly, J. G.

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