Literature DB >> 9199583

Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

C Jones, C Booth, D Rita, L Jazmines, B Brandt, A Newlan, B Horsthemke.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9199583      PMCID： PMC1716119          DOI： 10.1016/S0002-9297(07)64254-2

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  18 in total

1.  Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; C Junien; J Séger; P Schlienger; A Leblanc; C Haye
Journal:  Cancer Genet Cytogenet       Date:  1985-04-15

2.  CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene.

Authors:  N Ohtani-Fujita; T Fujita; A Aoike; N E Osifchin; P D Robbins; T Sakai
Journal:  Oncogene       Date:  1993-04       Impact factor: 9.867

3.  Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.

Authors:  T Mohandas; R S Sparkes; L J Shapiro
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

4.  Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

Authors:  T Sakai; J Toguchida; N Ohtani; D W Yandell; J M Rapaport; T P Dryja
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

5.  Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma.

Authors:  V Greger; E Passarge; W Höpping; E Messmer; B Horsthemke
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

6.  Translocation X;13 in a patient with retinoblastoma.

Authors:  G Ponzio; E Savin; G Cattaneo; M P Ghiotti; A Marra; O Zuffardi; C Danesino
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

7.  Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

Authors:  D R Lohmann; B Brandt; W Höpping; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

8.  Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.

Authors:  T Kajii; M Tsukahara; Y Fukushima; A Hata; K Matsuo; Y Kuroki
Journal:  Ann Genet       Date:  1985

Review 9.  Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Authors:  S Brown; S Gersen; K Anyane-Yeboa; D Warburton
Journal:  Am J Med Genet       Date:  1993-01-01

10.  Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.

Authors:  V Greger; N Debus; D Lohmann; W Höpping; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
View more
  3 in total

1.  Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.

Authors:  Patricia Y Akinfenwa; Patricia Chévez-Barrios; Clio A Harper; Dan S Gombos
Journal:  Ocul Oncol Pathol       Date:  2016-02-02

Review 2.  New perspectives for the elucidation of genetic disorders.

Authors:  Hans-Hilger Ropers
Journal:  Am J Hum Genet       Date:  2007-06-29       Impact factor: 11.025

3.  A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.

Authors:  Makiko Tsutsumi; Hiroyoshi Hattori; Nobuhiro Akita; Naoko Maeda; Toshinobu Kubota; Keizo Horibe; Naoko Fujita; Miki Kawai; Yasuko Shinkai; Maki Kato; Takema Kato; Rie Kawamura; Fumihiko Suzuki; Hiroki Kurahashi
Journal:  BMC Med Genomics       Date:  2019-12-05       Impact factor: 3.063
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.