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    Academic Journals

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  1

  Correction

  From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 2011100 words Brief article, Corre... 1410LIn the January/February 2011 issue of Genetic Testing and Molecular Biomarkers (Volume 15, Number 1-2, pp. 29-33), the article "Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in...
• Select A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia

  2

  A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia

  Authors:Muhammad Ajmal, Waqas Ahmed, Naveed Akhtar, Ahmed Sadeque, Ayesha Khalid, Syeda Hafiza Benish Ali, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,452 words Report 1590LAim: The aim of this study was to determine the genetic basis of familial hypercholesterolemia in a Pakistani family with a history of myocardial infarction and premature coronary artery disease. Results: Direct...
• Select Phenotype-genotype correlation in 295 Chinese deaf subjects with Biallelic causative mutations in the GJB2 gene

  3

  Phenotype-genotype correlation in 295 Chinese deaf subjects with Biallelic causative mutations in the GJB2 gene

  Authors:Fei-Fan Zhao, Yu-Bin Ji, Da-Yong Wang, Lan Lan, Ming-Kun Han, Qian Li, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20114,989 words Report 1400LAims: The connexin 26 coding gene (GJB2) is the primary causative gene for nonsyndromic sensorineural hearing impairment (NSSHI). More than 100 mutations in this gene have been reported to be linked to hearing...
• Select Notice of retraction

  4

  Notice of retraction

  From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 2011122 words Brief article 1440LThe article entitled, "Analysis of Azoospermia Factor Loci Polymorphisms Among Tunisian Infertile Men with Varicocele," by Lobna Hadjkacem-Loukil et al.,(Genet Test Mol Biomarkers, online ahead of print; Sept. 6, 2010),...
• Select Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma

  5

  Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma

  Authors:Sadia Ajaz, Shagufta Khaliq, Aiysha Abid, Asad Shehzad Hassan, Altaf Hashmi, Gauhar Sultan, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20112,979 words Report 1320LAims: Vascular endothelial growth factor (VEGF) protein plays an important role in tumor development and progression. Polymorphisms in the VEGF gene may lead to over- or underexpression of the protein and may be...
• Select Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma

  6

  Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma

  Authors:Mona Sedrak, Doaa Hashad, Hesham Adel, Amal Azzam, and Nermeen ElbeltagyFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20114,225 words Report 1560LAim: This study evaluates the use of cell-free fetal DNA in the plasma of RhD-negative women for noninvasive early detection of fetal RhD status and gender. Method: Ninety RhD-negative pregnant women were enrolled in...
• Select The presence of functionally relevant toll-like receptor polymorphisms does not significantly correlate with development or outcome of sepsis

  7

  The presence of functionally relevant toll-like receptor polymorphisms does not significantly correlate with development or outcome of sepsis

  Authors:Parviz Ahmad-Nejad, Christof Denz, Wilma Zimmer, Jennifer Wacker, Peter Bugert, Christel Weiss, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,951 words Report 1390LAims: Members of the toll-like receptor (TLR) family have been shown to play important roles in inflammatory responses. Single-nucleotide polymorphisms (SNPs) altering receptor activity may either have detectable...
• Select Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians

  8

  Lack of association of EPHX1 genotypes and haplotypes with oral cancer in South Indians

  Authors:Lakshmi Balaji, Bhaskar V.K.S. Lakkakula, Balaji Singh Krishna, and Solomon F.D. PaulFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20112,802 words Report 1330LAs genetic variation is thought to contribute to the etiology of oral cancer, microsomal epoxide hydrolase (EPHX1) was chosen as a candidate gene. This study thus sought to investigate possible genetic associations...
• Select Association between polymorphisms in MTHFR and APOA5 and metabolic syndrome in the Greek population

  9

  Association between polymorphisms in MTHFR and APOA5 and metabolic syndrome in the Greek population

  Authors:Yiannis Vasilopoulos, Theologia Sarafidou, Vasilis Bagiatis, Lambrini Skriapa, Yiannis Goutzelas, Panagiota Pervanidou, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20112,870 words Report 1490LImpaired energy homeostasis and low-grade inflammation have been related to components of the metabolic syndrome (MetS) such as dyslipidemia, obesity, and insulin resistance. Single-nucleotide polymorphisms in the genes...
• Select Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations

  10

  Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations

  Authors:Xiao-Liang Ding, Yang-Lin Deng, Jun Zhang, and Li-Yan MiaoFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20112,233 words Report 1400LCarboxylesterase 1 (CES1) is involved in the metabolic activation of a variety of prodrugs into active derivatives and plays an important role in pharmacokinetics and pharmacodynamics. A single-nucleotide polymorphism,...
• Select Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women

  11

  Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women

  Authors:Hirofumi Zempo, Kai Tanabe, Haruka Murakami, Motoyuki Iemitsu, Seiji Maeda, and Shinya KunoFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,378 words Report 1220LThe relation between ACTN3 R577X polymorphism and muscle mass in women has been reported, but its relation to age remains unclear. We investigated the relationship between ACTN3 R577X polymorphism and muscle mass in...
• Select Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme

  12

  Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme

  Authors:Sarah Berwouts, Todd M. Christensen, Jill Brandon, Bassem A. Bejjani, David E. Barton, and Elisabeth DequekerFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,946 words Report 1410LAim: With the arrival of increasingly complex molecular tests, we are obliged to create new ways to monitor and troubleshoot the underperformance of these multiplex assays. A synthetic multiallelic quality control...
• Select Correlates of the FTO gene variant (rs9939609) and growth of American Indian infants

  13

  Correlates of the FTO gene variant (rs9939609) and growth of American Indian infants

  Authors:Nuananong Seal, Michael Weaver, and Lyle G. BestFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20114,905 words Report 1470LAim: Obesity is a global, growing public-health problem. The detrimental health consequences of obesity are significant and include co-morbidities such as diabetes, coronary heart disease, and some types of cancer. To...
• Select Risky business: the need for hypothesis-generating research

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  Risky business: the need for hypothesis-generating research

  Authors:Kristin Baxter, Alyson Krokosky, and Sharon F. TerryFrom:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 2011939 words Article 1560LWithin the field of biomedical research, unbiased or "hypothesis-free" research is generally viewed negatively. Often characterized as a "fishing expedition" in a pool stocked with the wrong or too few fish,...
• Select Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

  15

  Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

  Authors:Katerina Hirschfeldova, Alice Baxova, Vera Kebrdlova, Roman Solc, Romana Mihalova, Petr Lnenicka, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,830 words Report 1150LAims: The aim of our study was to scan for cryptic rearrangements using the multiplex ligation probe amplification method in a cohort of 64 probands with mental retardation or developmental delays in combination with at...
• Select Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

  16

  Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy

  Authors:Laura Alias, Sara Bernal, Maria J. Barcelo, Eva Also-Rallo, Rebeca Martinez- Hernandez, Francisco J. Rodriguez-Alvarez, et al.From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 9) Peer-Reviewed

  Sept. 20113,542 words Report 1460LSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by absence of or mutations in the survival motor neuron1 gene (SMN1). All SMA patients have a highly homologous copy of SMN1, the...