The Role of Imprinted Genes in Fetal Growth
暂无分享,去创建一个
[1] M. Hemberger,et al. Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis , 2000, Developmental dynamics : an official publication of the American Association of Anatomists.
[2] G. Neri,et al. A somatic origin of homologous Robertsonian translocations and isochromosomes. , 1994, American journal of human genetics.
[3] M. Ridanpää,et al. Uniparental Disomy in Cartilage-Hair Hypoplasia , 1997, European journal of human genetics : EJHG.
[4] D. Bonthron,et al. The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes. , 2000, Human molecular genetics.
[5] J. D. Baum,et al. An imprinted gene(s) for diabetes? , 1995, Nature Genetics.
[6] R. Nicholls,et al. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. , 1993, American journal of medical genetics.
[7] B. Gelb,et al. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. , 1998, American journal of human genetics.
[8] Y. Fukushima,et al. New p57KIP2 mutations in Beckwith-Wiedemann syndrome , 1997, Human Genetics.
[9] H. Ropers,et al. Evidence against a major role of PEG1/MEST in Silver–Russell syndrome , 1998, European Journal of Human Genetics.
[10] E. Engel,et al. A new genetic concept: uniparental disomy and its potential effect, isodisomy. , 1980, American journal of medical genetics.
[11] A. Hoffman,et al. Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary. , 2001, Human molecular genetics.
[12] E. Keverne,et al. Regulation of maternal behavior and offspring growth by paternally expressed Peg3. , 1999, Science.
[13] J. Graham,et al. Mutation analysis of UBE3A in Angelman syndrome patients. , 1998, American journal of human genetics.
[14] S. Tilghman. The Sins of the Fathers and Mothers Genomic Imprinting in Mammalian Development , 1999, Cell.
[15] F. Liu,et al. Identification of Grb10 as a direct substrate for members of the Src tyrosine kinase family , 2000, Oncogene.
[16] A. Telenius,et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. , 1997, American journal of human genetics.
[17] K. Pfeifer,et al. Mechanisms of genomic imprinting. , 2000, American journal of human genetics.
[18] A. Bankier,et al. Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. , 1994, Journal of medical genetics.
[19] I. Temple,et al. Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus , 1998, Clinical genetics.
[20] G. Senger,et al. Maternal UPD 20 in a hyperactive child with severe growth retardation , 1999, European Journal of Human Genetics.
[21] D. Barlow,et al. Characteristics of imprinted genes , 1995, Nature Genetics.
[22] J. Tolmie,et al. Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. , 1997, Journal of medical genetics.
[23] D. Kalousek. Pathogenesis of chromosomal mosaicism and its effect on early human development. , 2000, American journal of medical genetics.
[24] J. Goodship,et al. A case of paternal uniparental disomy for chromosome 11 , 1995, Prenatal diagnosis.
[25] D. Ledbetter,et al. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. , 2000, American journal of human genetics.
[26] M. Surani,et al. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis , 1984, Nature.
[27] W. Robinson,et al. Maternal uniparental disomy 22 has no impact on the phenotype. , 1994, American journal of human genetics.
[28] R. Weksberg,et al. Molecular genetics of Wiedemann-Beckwith syndrome. , 1998, American journal of medical genetics.
[29] K. Anyane-Yeboa,et al. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. , 1995, American journal of medical genetics.
[30] A. Rodewald,et al. Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. , 2000, American journal of medical genetics.
[31] E. Blennow,et al. Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q). , 1999, American journal of medical genetics.
[32] D. Ledbetter,et al. Methylation-specific PCR simplifies imprinting analysis. , 1997 .
[33] J. Bressler,et al. NEUROGENETICS '99 Genetics of Angelman Syndrome , 1999 .
[34] F. Endo,et al. Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis , 2000, Human Genetics.
[35] T. Eggermann,et al. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients , 2001, Journal of medical genetics.
[36] M. Andrien,et al. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. , 1994, The Journal of clinical investigation.
[37] L. Willatt,et al. A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. , 1992, Journal of medical genetics.
[38] A. Schinzel,et al. Severe intra‐uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22‐trisomic placenta , 1999, Prenatal diagnosis.
[39] R. Jirtle,et al. Genomic imprinting: implications for human disease. , 1999, The American journal of pathology.
[40] G. Luleci,et al. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) , 1996, American journal of human genetics.
[41] W. Reik,et al. Igf2 imprinting in development and disease. , 2000, The International journal of developmental biology.
[42] A. Ferguson-Smith,et al. Roles for genomic imprinting and the zygotic genome in placental development , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[43] C. Polychronakos,et al. Functional polymorphism in the parental imprinting of the human IGF2R gene. , 1993, Biochemical and biophysical research communications.
[44] A. Soler,et al. Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis. , 2000, American journal of medical genetics.
[45] B. Cattanach. Parental origin effects in mice. , 1986, Journal of embryology and experimental morphology.
[46] J. Bressler,et al. Genetics of Angelman syndrome. , 1999, American journal of human genetics.
[47] G. Pardi,et al. Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. , 2001, Placenta.
[48] P. Benn. Trisomy 16 and trisomy 16 Mosaicism: a review. , 1998, American journal of medical genetics.
[49] P. Rogan,et al. Maternal uniparental disomy of chromosome 21 in a normal child. , 1999, American journal of medical genetics.
[50] H. Kayserili,et al. Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. , 1998, American journal of medical genetics.
[51] A. Clarke,et al. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype , 1998, Clinical genetics.
[52] M. Azim Surani,et al. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest , 1998, Nature Genetics.
[53] A. Feinberg,et al. Loss of imprinting of insulin-like growth factor-II (IGF2) gene in distinguishing specific biologic subtypes of Wilms tumor. , 2001, Journal of the National Cancer Institute.
[54] C. Junien,et al. Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6 , 2000, European Journal of Human Genetics.
[55] K. Hirschhorn,et al. Paternal uniparental disomy for chromosome 14: a case report and review. , 1997, American journal of medical genetics.
[56] P. Savelkoul,et al. Uniparental maternal disomy 6 in a renal transplant patient. , 1996, Human immunology.
[57] Y. Fukushima,et al. An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome , 1996, Nature Genetics.
[58] W. Reik,et al. Genomic imprinting: Silence across the border , 2000, Nature.
[59] I M Morison,et al. The imprinted gene and parent-of-origin effect database , 2001, Nucleic Acids Res..
[60] L. Shaffer,et al. Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. , 1998, American journal of medical genetics.
[61] L. Field,et al. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. , 1998, American journal of human genetics.
[62] S. Langlois,et al. MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS , 1997, Prenatal diagnosis.
[63] D. J. Driscoll,et al. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. , 1997, Molecular human reproduction.
[64] T. Eggermann,et al. Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. , 2000, Annales de genetique.
[65] L. Gaunt,et al. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. , 1997, Journal of medical genetics.
[66] T. Moore,et al. Genomic imprinting in mammalian development: a parental tug-of-war. , 1991, Trends in genetics : TIG.
[67] A. Efstratiadis,et al. Parental imprinting of the mouse insulin-like growth factor II gene , 1991, Cell.
[68] D. Ledbetter,et al. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. , 1999, The Journal of pediatrics.
[69] B. Janssen,et al. First confirmed case with paternal uniparental disomy of chromosome 16. , 2000, American journal of medical genetics.
[70] J. Goodship,et al. MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATION , 1996, Prenatal diagnosis.
[71] D. Avramopoulos,et al. Normal phenotype with paternal uniparental isodisomy for chromosome 21. , 1993, American journal of human genetics.
[72] D. Ledbetter,et al. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. , 1995, Human molecular genetics.
[73] M. Owen,et al. Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia. , 1994, American journal of medical genetics.
[74] S. Langlois,et al. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy , 2001, Prenatal diagnosis.
[75] A. Roux,et al. Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty , 1996, European journal of human genetics : EJHG.
[76] S. Murphy,et al. Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior. , 2001, Genomics.
[77] H. Slater,et al. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy , 2000, Prenatal diagnosis.
[78] J. Uitto,et al. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. , 1997, American journal of human genetics.
[79] L. Cuisset,et al. Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis. , 2000, Human molecular genetics.
[80] E. Denamur,et al. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. , 2000, Diabetes.
[81] I. Järvelä,et al. Prenatally detected paternal uniparental chromosome 13 isodisomy , 1998, Prenatal diagnosis.
[82] D. Ledbetter,et al. Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia , 1999, Pediatric Research.
[83] L. Shaffer,et al. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. , 1999, American journal of medical genetics.
[84] A. Efstratiadis,et al. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting , 1990, Nature.