Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
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K. Kutsche | E. Schwinger | G. Gillessen‐kaesbach | A. Gal | B. Ressler | Heide-Gertrude Katzera | U. Orth | S. Morlot | G. Gillessen‐Kaesbach
[1] H. Moser,et al. ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations , 2001, Human mutation.
[2] Tamim H. Shaikh,et al. Segmental duplications: an 'expanding' role in genomic instability and disease , 2001, Nature Reviews Genetics.
[3] J. V. Moran,et al. Initial sequencing and analysis of the human genome. , 2001, Nature.
[4] E. Eichler,et al. Structure of chromosomal duplicons and their role in mediating human genomic disorders. , 2000, Genome research.
[5] J. Schröder,et al. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. , 2000, American journal of medical genetics.
[6] H. Soininen,et al. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination? , 2000, European Journal of Human Genetics.
[7] M. Batzer,et al. Alu repeats and human disease. , 1999, Molecular genetics and metabolism.
[8] K. Tavassoli,et al. A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene , 1999, Human Genetics.
[9] B. Burwinkel,et al. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. , 1998, Journal of molecular biology.
[10] J. Schröder,et al. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. , 1997, American journal of medical genetics.
[11] J. Chae,et al. Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia , 1997, Human Genetics.
[12] B. Royer-Pokora,et al. A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia , 1996, Human Genetics.
[13] R. Taramelli,et al. Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism , 1996, Human Genetics.
[14] Y. Suzuki,et al. Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). , 1995, Genomics.
[15] L. Peltonen,et al. Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement. , 1995, Human molecular genetics.
[16] N. Gregersen,et al. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. , 1995, Nucleic acids research.
[17] J. Mandel,et al. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). , 1994, Human molecular genetics.
[18] J. Mosser,et al. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. , 1993, Human molecular genetics.
[19] A. Munnich,et al. A duplication in the L1CAM gene associated with X–linked hydrocephalus , 1993, Nature Genetics.
[20] Jean Mosser,et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters , 1993, Nature.
[21] E. Brinson,et al. The 32·6 kb Indian δβ‐thalassaemia deletion ends in a 3·4 kb L1 element downstream of the β‐globin gene , 1992 .
[22] K. Davies,et al. Sequences of junction fragments in the deletion-prone region of the dystrophin gene. , 1991, Genomics.
[23] R. Desnick,et al. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. , 1990, The Journal of biological chemistry.
[24] D. Mager,et al. Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. , 1990, Genomics.
[25] D. Higgs,et al. Recombination at the human α-globin gene cluster: Sequence features and topological constraints , 1987, Cell.
[26] D. Kioussis,et al. Unexpected relationships between four large deletions in the human β-globin gene cluster , 1983, Cell.
[27] A. George. The metabolic basis of inherited disease , 1961 .
[28] International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome , 2001, Nature.
[29] R. Desnick,et al. ar-Galactosidase A Gene Rearrangements Causing Fabry Disease , 2001 .
[30] A. V. D. van den Ouweland,et al. Characterisation of six large deletions in TSC 2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination , 2000 .
[31] A. Ballabio,et al. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. , 1999, American journal of human genetics.
[32] B. V. van Oost,et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. , 1995, American journal of human genetics.
[33] E. Brinson,et al. The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene. , 1992, British Journal of Haematology.
[34] F. Stahl. Special sites in generalized recombination. , 1979, Annual review of genetics.