Literature DB >> 2325107

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

K L Ying1, J Oizumi, C J Curry.   

Abstract

This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

Entities:  

Mesh：

Year:  1990        PMID： 2325107      PMCID： PMC1017030          DOI： 10.1136/jmg.27.4.258

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  [Ectodermal dysplasias and related hereditary syndromes].

Authors:  A FRANCESCHETTI
Journal:  Dermatologica       Date:  1953

2.  Trisomy 8 mosaicism syndrome.

Authors:  A Schinzel; Z Biró; W Schmid; K Hayashi
Journal:  Helv Paediatr Acta       Date:  1974-12

3.  Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.

Authors:  D G Starr; J P McClure; J M Connor
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

4.  Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture.

Authors:  J Uitto; E A Bauer; D J Santa-Cruz; R J Loewinger; A Z Eisen
Journal:  J Invest Dermatol       Date:  1980-08       Impact factor: 8.551

5.  Rothmund-Thomson syndrome: an oculocutaneous disorder.

Authors:  H K Silver
Journal:  Am J Dis Child       Date:  1966-02

6.  Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts.

Authors:  W B TAYLOR
Journal:  AMA Arch Derm       Date:  1957-02

7.  Rothmund-Thomson syndrome with severe dwarfism.

Authors:  J G Hall; R A Pagon; K M Wilson
Journal:  Am J Dis Child       Date:  1980-02
  7 in total
  10 in total

1.  Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma.

Authors:  Bethlehem Gelaw; Said Ali; Joseph Becker
Journal:  Skeletal Radiol       Date:  2004-06-09       Impact factor: 2.199

2.  Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

Authors:  Shepherd H Schurman; Mohammad Hedayati; ZhengMing Wang; Dharmendra K Singh; Elzbieta Speina; Yongqing Zhang; Kevin Becker; Margaret Macris; Patrick Sung; David M Wilson; Deborah L Croteau; Vilhelm A Bohr
Journal:  Hum Mol Genet       Date:  2009-06-29       Impact factor: 6.150

3.  Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

Authors:  S G Grant; S L Wenger; J J Latimer; D Thull; L W Burke
Journal:  Clin Genet       Date:  2000-09       Impact factor: 4.438

4.  Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Authors:  B Kerr; G S Ashcroft; D Scott; M A Horan; M W Ferguson; D Donnai
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

5.  Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Authors:  K H Orstavik; N McFadden; J Hagelsteen; E Ormerod; C B van der Hagen
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

Review 6.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

Review 7.  RecQ helicases: multifunctional genome caretakers.

Authors:  Wai Kit Chu; Ian D Hickson
Journal:  Nat Rev Cancer       Date:  2009-08-06       Impact factor: 60.716

8.  Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.

Authors:  Georges Maire; Maisa Yoshimoto; Susan Chilton-MacNeill; Paul S Thorner; Maria Zielenska; Jeremy A Squire
Journal:  Neoplasia       Date:  2009-03       Impact factor: 5.715

Review 9.  RecQ helicases: suppressors of tumorigenesis and premature aging.

Authors:  Csanád Z Bachrati; Ian D Hickson
Journal:  Biochem J       Date:  2003-09-15       Impact factor: 3.857

Review 10.  Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.

Authors:  Thong T Luong; Kara A Bernstein
Journal:  Genes (Basel)       Date:  2021-11-29       Impact factor: 4.096
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.