Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
暂无分享,去创建一个
David I. Wilson | T. Strachan | A. Buckler | D. J. Law | R. Newbury-Ecob | S. Lyonnet | J. Terrett | S. Robson | D. Bonnet | J. Brook | Quanzhi Li | I. Young | T. Gebuhr | J. Raeburn | P. Bullen | C. Yi | A. Curtis | Q. Li | D. Wilson | Ian Young | Quan Yi Li | Cheong Ho Yi | Jonathan A. Terrett | Ian D. Young | David J. Law | David I. Wilson | Ruth A. Newbury-Ecob | Andrew R.J. Curtis | Cheong Ho Yi | Philip J. Bullen | Stephen C. Robson | J. A. Raeburn | Alan J. Buckler | J. Brook | A. Curtis
[1] A. Munnich,et al. A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. , 1996, American journal of human genetics.
[2] S. Scherer,et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly , 1996, Nature Genetics.
[3] C. Helms,et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly , 1996, Nature Genetics.
[4] E. Zackai,et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes , 1996, Nature Genetics.
[5] L. Silver,et al. Evolution of mouse T-box genes by tandem duplication and cluster dispersion. , 1996, Genetics.
[6] G. Lyons,et al. Vertebrate heart development. , 1996, Current opinion in genetics & development.
[7] L. Silver,et al. Expression of the T‐box family genes, Tbx1–Tbx5, during early mouse development , 1996, Developmental dynamics : an official publication of the American Association of Anatomists.
[8] M. Cohn,et al. Limbs: a model for pattern formation within the vertebrate body plan. , 1996, Trends in genetics : TIG.
[9] J. Goodship,et al. Developmental genetics of the heart. , 1996, Current opinion in genetics & development.
[10] Gerd Scherer,et al. Sex reversal by loss of the C–terminal transactivation domain of human SOX9 , 1996, Nature Genetics.
[11] D. Srivastava,et al. Molecular Pathways Controlling Heart Development , 1996, Science.
[12] E. Mariman,et al. Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. , 1996, Human molecular genetics.
[13] V. Papaioannou,et al. Evidence of a role for T-☐ genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity , 1996, Mechanisms of Development.
[14] S. Mundlos,et al. Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13 , 1996, Science.
[15] R. Newbury-Ecob,et al. Holt-Oram syndrome: a clinical genetic study. , 1996, Journal of medical genetics.
[16] G. Pflugfelder,et al. Control of the Gene optomotor-blind in Drosophila Wing Development by decapentaplegic and wingless , 1996, Science.
[17] D A Hopkinson,et al. The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27. , 1996, Genome research.
[18] G. Lennon,et al. The identification of exons from the MED/PSACH region of human chromosome 19. , 1996, Genomics.
[19] J. Wasmuth,et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome , 1996, Nature Genetics.
[20] W H Lamers,et al. The establishment of the hepatic architecture is a prerequisite for the development of a lobular pattern of gene expression. , 1996, Development.
[21] B. Koschorz,et al. The T protein encoded by Brachyury is a tissue‐specific transcription factor. , 1995, The EMBO journal.
[22] M. Bamshad,et al. A gene for ulnar-mammary syndrome maps to 12q23-q24.1. , 1995, Human molecular genetics.
[23] B. Hogan,et al. Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. , 1995, Genes & development.
[24] C. Tickle,et al. Vertebrate limb development. , 1995, Current opinion in genetics & development.
[25] B. Beatty,et al. Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. , 1995, Genomics.
[26] J. Rubenstein,et al. T-Brain-1: A homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex , 1995, Neuron.
[27] A. Templeton,et al. Induction of abortion with mifepristone (RU 486) and oral or vaginal misoprostol. , 1995, The New England journal of medicine.
[28] D. Higgs,et al. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome) , 1995, Cell.
[29] C. Tabin. The initiation of the limb bud: Growth factors, Hox genes, and retinoids , 1995, Cell.
[30] W. Reardon,et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome , 1995, Nature Genetics.
[31] L. Silver,et al. Conservation of the T-box gene family from Mus musculus to Caenorhabditis elegans. , 1995, Genomics.
[32] N. Dracopoli,et al. Current protocols in human genetics , 1994 .
[33] Sahar Mansour,et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene , 1994, Nature.
[34] R. Stevenson,et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor , 1994, Cell.
[35] L. Wolpert. Do we understand development? , 1994, Science.
[36] E. Mariman,et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12 , 1994, Nature Genetics.
[37] M. Polymeropoulos,et al. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 , 1994, Nature Genetics.
[38] Sue Malcolm,et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome , 1994, Nature Genetics.
[39] R. L. Johnson,et al. Mechanisms of limb patterning. , 1994, Current opinion in genetics & development.
[40] B. Herrmann,et al. The T genes in embryogenesis. , 1994, Trends in genetics : TIG.
[41] Lee M. Silver,et al. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus , 1994, Nature Genetics.
[42] Cécile Fizames,et al. The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.
[43] C. Rodeck,et al. First-trimester fetal necropsy after ultrasound-guided aspiration , 1994, The Lancet.
[44] A. Jeffreys,et al. Isolation of human simple repeat loci by hybridization selection. , 1994, Human molecular genetics.
[45] R. Newbury-Ecob,et al. Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q , 1994, Nature Genetics.
[46] J. Weissenbach,et al. A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 , 1994, Nature Genetics.
[47] C. Nüsslein-Volhard,et al. no tail (ntl) is the zebrafish homologue of the mouse T (Brachyury) gene. , 1994, Development.
[48] S. Solomon,et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) , 1994, The New England journal of medicine.
[49] D. Church,et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification , 1994, Nature Genetics.
[50] C. Amemiya,et al. A new bacteriophage P1–derived vector for the propagation of large human DNA fragments , 1994, Nature Genetics.
[51] C. Tickle,et al. Bone morphogenetic proteins and a signalling pathway that controls patterning in the developing chick limb. , 1994, Development.
[52] J. Weissenbach,et al. A first-generation physical map of the human genome , 1993, Nature.
[53] R. Ho,et al. Induction of muscle pioneers and floor plate is distinguished by the zebrafish no tail mutation , 1993, Cell.
[54] B. Herrmann,et al. The Brachyury gene encodes a novel DNA binding protein. , 1993, The EMBO journal.
[55] cDNA libraries from human tissues and cell lines. , 1993, Cytogenetics and cell genetics.
[56] B. Poeck,et al. A homology domain shared between Drosophila optomotor-blind and mouse Brachyury is involved in DNA binding. , 1992, Biochemical and biophysical research communications.
[57] M. Heisenberg,et al. The lethal(1)optomotor-blind gene of Drosophila melanogaster is a major organizer of optic lobe development: isolation and characterization of the gene. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[58] C. Baldwin,et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.
[59] R. Balling,et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene , 1992, Nature.
[60] L. Strong,et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region , 1991, Cell.
[61] M. Wapenaar,et al. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library. , 1991, Genomics.
[62] R. Harland,et al. Injected Xwnt-8 RNA acts early in Xenopus embryos to promote formation of a vegetal dorsalizing center , 1991, Cell.
[63] M. Kozak,et al. An analysis of vertebrate mRNA sequences: intimations of translational control , 1991, The Journal of cell biology.
[64] J. Smith,et al. Expression of a xenopus homolog of Brachyury (T) is an immediate-early response to mesoderm induction , 1991, Cell.
[65] K. Grzeschik,et al. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families , 1991, Nature.
[66] J. Hurst,et al. The Holt-Oram syndrome. , 1991, Journal of medical genetics.
[67] F. Sherman. Getting started with yeast. , 1991, Methods in enzymology.
[68] M. Heisenberg,et al. Genetic and molecular characterization of the optomotor-blind gene locus in Drosophila melanogaster. , 1990, Genetics.
[69] M. Silengo,et al. Heart‐hand syndrome II. A report of Tabatznik syndrome with new findings , 1990, Clinical genetics.
[70] J. Riley,et al. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. , 1990, Nucleic acids research.
[71] A. Poustka,et al. Cloning of the T gene required in mesoderm formation in the mouse , 1990, Nature.
[72] K. Willison. The mouse Brachyury gene and mesoderm formation. , 1990, Trends in genetics : TIG.
[73] D. Ledbetter,et al. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[74] R. Verma,et al. Human Chromosomes: Manual of Basic Techniques , 1989 .
[75] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[76] A. Feinberg,et al. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. , 1983, Analytical biochemistry.
[77] V. McKusick,et al. The genetics of hand malformations. , 1978, Birth defects original article series.
[78] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[79] J. Wada. Congenital Heart Diseases : Symposium for Future Advance of Cardiac Surgery , 1963 .
[80] S. Oram,et al. FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS , 1960, British heart journal.