De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

[1]  M. Moyses-Oliveira,et al.  Position effect modifying gene expression in a patient with ring chromosome 14 , 2015, Journal of Applied Genetics.

[2]  Andrea Masotti,et al.  Telomere shortening and telomere position effect in mild ring 17 syndrome , 2014, Epigenetics & Chromatin.

[3]  H. Kazui,et al.  Influence of the NRGN gene on intellectual ability in schizophrenia , 2013, Journal of Human Genetics.

[4]  C. Kim,et al.  Ring chromosome 10: report on two patients and review of the literature , 2013, Journal of Applied Genetics.

[5]  C. Ruivenkamp,et al.  Molecular and clinical characterization of patients with a ring chromosome 11. , 2012, European journal of medical genetics.

[6]  M. Trková,et al.  SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome , 2012, American journal of medical genetics. Part A.

[7]  R. Meech,et al.  Barx2 Is Expressed in Satellite Cells and Is Required for Normal Muscle Growth and Regeneration , 2012, Stem cells.

[8]  N. Spinner,et al.  Mechanisms of ring chromosome formation, ring instability and clinical consequences , 2011, BMC Medical Genetics.

[9]  Jeremy M. Stark,et al.  Subtelomeric regions in mammalian cells are deficient in DNA double-strand break repair. , 2011, DNA repair.

[10]  P. Radice,et al.  Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico‐pathological studies , 2010, American journal of medical genetics. Part A.

[11]  L. Garrett-Sinha,et al.  Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. , 2010, Human molecular genetics.

[12]  Y. Juliano,et al.  Ring chromosome instability evaluation in six patients with autosomal rings. , 2010, Genetics and molecular research : GMR.

[13]  H. Tanke,et al.  Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion , 2007, European Journal of Human Genetics.

[14]  L. Tiepolo,et al.  Congenital ocular and other systemic abnormalities associated with ring-11 chromosome , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

[15]  L. Zahed,et al.  Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism , 2004, American journal of medical genetics. Part A.

[16]  K. Jones,et al.  The 11q terminal deletion disorder: A prospective study of 110 cases , 2004, American journal of medical genetics. Part A.

[17]  G. Kosztolányi.  Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome , 1987, Human Genetics.

[18]  R. Sparkes,et al.  Ring 11 chromosome (46,XX,r11(p15q25)) , 1977, Human Genetics.

[19]  V. Riccardi,et al.  The 11q- syndrome , 1977, Human Genetics.

[20]  David I. Wilson,et al.  Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. , 2002, Genomics.

[21]  M. Evans,et al.  Prenatal diagnosis of a de novo ring chromosome 11. , 2001, American journal of medical genetics.

[22]  E. Jabs,et al.  Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. , 1999, American journal of medical genetics.

[23]  J. Bernal,et al.  The human RC3 gene homolog, NRGN contains a thyroid hormone-responsive element located in the first intron. , 1999, Endocrinology.

[24]  P. Marynen,et al.  Chromosome healing of constitutional chromosome deletions studied by microdissection , 1998, Cytogenetic and Genome Research.

[25]  M. Yip,et al.  Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter. , 1996, Journal of medical genetics.

[26]  A. Wilkie,et al.  A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n , 1990, Nature.

[27]  G. Suthers,et al.  Ring chromosome 11 and café-au-lait spots. , 1988, American journal of medical genetics.

[28]  C. Stevens,et al.  Report of two cases of distal deletion of the long arm of chromosome 6. , 1988, American journal of medical genetics.

[29]  S. Peca,et al.  Ring chromosome 11. A case report and review of the literature. , 1986, Annales de genetique.

[30]  A. Kerr,et al.  Two cases of ring chromosome 11. , 1983, Journal of medical genetics.

[31]  J. Higgins,et al.  Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q. , 1983, American journal of medical genetics.

[32]  O. Raoul,et al.  [Ring-shaped chromosome 11 (46, XX, r11). A new case]. , 1981, La Nouvelle presse medicale.

[33]  D. Deligeorgis,et al.  The cytogenetic and clinical implications of a ring chromosome 2. , 1981, Annales de genetique.

[34]  Y. Fukushima,et al.  Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome. , 1981, Annales de genetique.

[35]  W. J. Burdette,et al.  Multiple Congenital Anomalies Associated with a Ring 3 Chromosome and Translocated 3/X Chromosome , 1966, Nature.