Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
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J. Fajkus | L. Fajkusová | L. Tichý | V. Soška | T. Freiberger | P. Zapletalová | O. Letocha | R. Goldmann | Petra Zapletalová
[1] S. G. Hadfield,et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project , 2010, Clinical genetics.
[2] G. Bernardi,et al. Mapping Insertions, Deletions and SNPs on Venter's Chromosomes , 2009, PloS one.
[3] Wei Huang,et al. Bmc Medical Genetics , 2022 .
[4] J. Witteman,et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study , 2008, BMJ : British Medical Journal.
[5] Emilio Ros,et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. , 2008, The American journal of cardiology.
[6] S. Humphries,et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study , 2008, European heart journal.
[7] Z. Yakhini,et al. Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements , 2008, PloS one.
[8] E. Trifonov,et al. Epigenetic Nucleosomes: Alu Sequences and CG as Nucleosome Positioning Element , 2008, Journal of biomolecular structure & dynamics.
[9] S E Humphries,et al. Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database , 2008, Annals of human genetics.
[10] A. Tsalenko,et al. The fine-scale and complex architecture of human copy-number variation. , 2008, American journal of human genetics.
[11] Philip M. Kim,et al. Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.
[12] Sang Eun Lee,et al. Saccharomyces cerevisiae Sae2- and Tel1-Dependent Single-Strand DNA Formation at DNA Break Promotes Microhomology-Mediated End Joining , 2007, Genetics.
[13] P. Manivasakam,et al. Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae , 2007, Nucleic acids research.
[14] W. Schulz,et al. Methylation of endogenous human retroelements in health and disease. , 2006, Current topics in microbiology and immunology.
[15] M. L. Larsen,et al. Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects , 2006, BMC Medical Genetics.
[16] J. Kastelein,et al. Update of the molecular basis of familial hypercholesterolemia in The Netherlands , 2005, Human mutation.
[17] E. Sijbrands,et al. Low-Density Lipoprotein Receptor Genotype and Response to Pravastatin in Children With Familial Hypercholesterolemia: Substudy of an Intima-Media Thickness Trial , 2005, Circulation.
[18] Barbara J. Trask,et al. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication , 2005, Nature.
[19] K. Berge,et al. Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. , 2005, Clinica chimica acta; international journal of clinical chemistry.
[20] J. Lupski,et al. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. , 2004, Human molecular genetics.
[21] F. Civeira,et al. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. , 2004, Atherosclerosis.
[22] J. Issa,et al. Enrichment for Histone H3 Lysine 9 Methylation at Alu Repeats in Human Cells* , 2003, Journal of Biological Chemistry.
[23] S. Humphries,et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. , 2003, Atherosclerosis.
[24] M. Krempf,et al. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia , 2002, Human Genetics.
[25] J. Kastelein,et al. The molecular basis of familial hypercholesterolemia in The Netherlands , 2001, Human Genetics.
[26] J. Ordovás,et al. Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population , 2001, European journal of clinical investigation.
[27] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[28] M. Batzer,et al. Potential gene conversion and source genes for recently integrated Alu elements. , 2000, Genome research.
[29] H. Liber,et al. Homologous and Nonhomologous Recombination Resulting in Deletion: Effects of p53 Status, Microhomology, and Repetitive DNA Length and Orientation , 2000, Molecular and Cellular Biology.
[30] M. Batzer,et al. Alu repeats and human disease. , 1999, Molecular genetics and metabolism.
[31] R. Tiozzo,et al. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia). , 1996, Atherosclerosis.
[32] I. Willis. RNA polymerase III. Genes, factors and transcriptional specificity. , 1993, European journal of biochemistry.
[33] M. Batzer,et al. Evolution of the master Alu gene(s) , 1991, Journal of Molecular Evolution.
[34] R. Tiozzo,et al. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia. , 1991, Arteriosclerosis and thrombosis : a journal of vascular biology.
[35] H. Hobbs,et al. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. , 1990, Annual review of genetics.
[36] S. Grundy,et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[37] D. Russell,et al. Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia , 1987, Cell.
[38] H. Hobbs,et al. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. , 1986, The Journal of biological chemistry.
[39] H. Hobbs,et al. Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[40] E. Geiduschek,et al. Analysis of transcription of the human Alu family ubiquitous repeating element by eukaryotic RNA polymerase III. , 1981, Nucleic acids research.
[41] M. Batzer,et al. Recently integrated human Alu repeats: finding needles in the haystack , 2004, Genetica.
[42] Carl W. Schmid,et al. Standardized nomenclature for Alu repeats , 2004, Journal of Molecular Evolution.
[43] A. Mighell,et al. Alu sequences , 1997, FEBS letters.
[44] R. Tiozzo,et al. Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia. , 1995, Arteriosclerosis, thrombosis, and vascular biology.
[45] H. Hobbs,et al. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia , 1992, Human mutation.
[46] S. Grundy,et al. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[47] L. Soria. Association between a specific apo B mutation and familial defective apoB100 , 1989 .
[48] H. Bradshaw,et al. Clustering and subfamily relationships of the Alu family in the human genome. , 1987, Molecular biology and evolution.
[49] A. Weiner,et al. Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information. , 1986, Annual review of biochemistry.