Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
暂无分享,去创建一个
[1] J. Lupski,et al. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect , 2006, Annals of neurology.
[2] P. Stankiewicz,et al. Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications , 2005, American journal of medical genetics. Part A.
[3] J. Lupski,et al. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency , 2005, Genetics in Medicine.
[4] P. Stankiewicz,et al. Interphase FISH screening for the LCR‐mediated common rearrangement of isochromosome 17q in primary myelofibrosis , 2005, American journal of hematology.
[5] E. Eichler,et al. Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.
[6] J. Lupski,et al. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. , 2005, Human molecular genetics.
[7] P. Stankiewicz,et al. Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia , 2005 .
[8] K. Devriendt,et al. RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions , 2005, Journal of Medical Genetics.
[9] B. Rovin,et al. The Influence of CCL 3 L 1 Gene – Containing Segmental Duplications on HIV-1 / AIDS Susceptibility , 2009 .
[10] H. Stefánsson,et al. A common inversion under selection in Europeans , 2005, Nature Genetics.
[11] J. Lupski,et al. Chapter 70 – Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion , 2005 .
[12] P. Stankiewicz,et al. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. , 2005, American journal of human genetics.
[13] D. Kleinjan,et al. Long-range control of gene expression: emerging mechanisms and disruption in disease. , 2005, American journal of human genetics.
[14] J. Lupski,et al. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. , 2004, Human molecular genetics.
[15] E. Lander,et al. Finishing the euchromatic sequence of the human genome , 2004 .
[16] C. Ponting,et al. Finishing the euchromatic sequence of the human genome , 2004 .
[17] J. Bonfield,et al. Finishing the euchromatic sequence of the human genome , 2004, Nature.
[18] N. Carter,et al. Applications of genomic microarrays to explore human chromosome structure and function. , 2004, Human molecular genetics.
[19] J. Lupski,et al. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome , 2004, Human Genetics.
[20] David N Cooper,et al. Breakpoints of gross deletions coincide with non-B DNA conformations. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[21] J. Lupski,et al. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal , 2004, Genome Biology.
[22] N. Carter. As normal as normal can be? , 2004, Nature Genetics.
[23] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[24] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[25] J. Lupski,et al. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. , 2004, American journal of human genetics.
[26] Dana C Crawford,et al. Evidence for substantial fine-scale variation in recombination rates across the human genome , 2004, Nature Genetics.
[27] S. Keeney,et al. Where the crossovers are: recombination distributions in mammals , 2004, Nature Reviews Genetics.
[28] P. Donnelly,et al. The Fine-Scale Structure of Recombination Rate Variation in the Human Genome , 2004, Science.
[29] X. Estivill,et al. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p , 2004, Human Genetics.
[30] J. Lupski,et al. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. , 2004, Human molecular genetics.
[31] M. Fontès,et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease , 2004, Nature Medicine.
[32] J. Lupski,et al. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). , 2003, Human molecular genetics.
[33] Christina A. Cuomo,et al. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. , 2004, American journal of human genetics.
[34] J. Lupski,et al. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms , 2004, Human Genetics.
[35] J. Lupski,et al. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. , 2003, American journal of human genetics.
[36] K. Nave,et al. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A) , 2003, Nature Medicine.
[37] P. Stankiewicz,et al. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] , 2003, Genetics in Medicine.
[38] E. Eichler,et al. An Alu transposition model for the origin and expansion of human segmental duplications. , 2003, American journal of human genetics.
[39] J. Lupski,et al. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance , 2003, Molecular and Cellular Biology.
[40] L. Shaffer,et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. , 2003, American journal of human genetics.
[41] Xavier Estivill,et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. , 2003, Human molecular genetics.
[42] C. Vlangos,et al. Mutations in RAI1 associated with Smith–Magenis syndrome , 2003, Nature Genetics.
[43] J. Lupski. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. , 2003, American journal of human genetics.
[44] J. Lupski,et al. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. , 2002, American journal of human genetics.
[45] L. Shaffer,et al. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. , 2002, American journal of human genetics.
[46] Dagmar Wieczorek,et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. , 2002, American journal of human genetics.
[47] B. Birren,et al. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. , 2002, Genome research.
[48] G. Danieli,et al. Analysis of 22 deletion breakpoints in dystrophin intron 49 , 2002, Human Genetics.
[49] P. Stankiewicz,et al. Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.
[50] E. Eichler,et al. Recent duplication, domain accretion and the dynamic mutation of the human genome. , 2001, Trends in genetics : TIG.
[51] P. Stankiewicz,et al. Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype , 2001, Clinical genetics.
[52] Stephen W. Scherer,et al. A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome , 2001, Nature Genetics.
[53] B. Trask,et al. Segmental duplications: organization and impact within the current human genome project assembly. , 2001, Genome research.
[54] L. Shaffer,et al. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.
[55] Å. Borg,et al. Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. , 1999, Blood.
[56] L. Shaffer,et al. Proteolipid protein gene duplications causing Pelizaeus‐Merzbacher disease: Molecular mechanism and phenotypic manifestations , 1999, Annals of neurology.
[57] C. Tyler-Smith,et al. A selective difference between human Y-chromosomal DNA haplotypes , 1998, Current Biology.
[58] J. Lupski. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. , 1998, Trends in genetics : TIG.
[59] J. Lupski,et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element , 1998, Nature Genetics.
[60] Gerald R. Smith. Chi Sites and Their Consequences , 1998 .
[61] A. C. Chinault,et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome , 1997, Nature Genetics.
[62] B. Trask,et al. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients , 1996, Human Genetics.
[63] F Greenberg,et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. , 1996, American journal of human genetics.
[64] C McCluggage,et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) , 1996, American journal of medical genetics.
[65] J. Lupski,et al. The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances , 1996 .
[66] J. Lupski,et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. , 1994, Human molecular genetics.
[67] Stylianos E. Antonarakis,et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A , 1993, Nature Genetics.
[68] J. Lupski,et al. Conservation and evolution of the rpsU‐dnaG‐rpoD macromolecular synthesis operon in bacteria , 1993, Molecular microbiology.
[69] C. Disteche,et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies , 1993, Cell.
[70] A. C. Chinault,et al. Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit , 1992, Nature Genetics.
[71] J. Lupski,et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). , 1991, American journal of human genetics.
[72] Aravinda Chakravarti,et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.
[73] R. Liskay,et al. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology , 1988, Molecular and cellular biology.
[74] A. Letsou,et al. Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells. , 1987, Genetics.
[75] R. Pauli,et al. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. , 1986, American journal of medical genetics.
[76] J. Opitz,et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. , 1986, American journal of medical genetics.