Literature DB >> 23188052

Clinical utility gene card for: Rothmund-Thomson syndrome.

Lidia Larizza1, Gaia Roversi, Alain Verloes.   

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Year:  2012        PMID： 23188052      PMCID： PMC3722954          DOI： 10.1038/ejhg.2012.260

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  16 in total

1.  An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.

Authors:  Pauline Balraj; Pat Concannon; Rahman Jamal; Alessandro Beghini; T S Hoe; Alan Soobeng Khoo; Ludovica Volpi
Journal:  Mutat Res       Date:  2002-10-31       Impact factor: 2.433

2.  Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Authors:  L L Wang; M L Levy; R A Lewis; M M Chintagumpala; D Lev; M Rogers; S E Plon
Journal:  Am J Med Genet       Date:  2001-07-22

Review 3.  Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Authors:  Lidia Larizza; Ivana Magnani; Gaia Roversi
Journal:  Cancer Lett       Date:  2005-11-03       Impact factor: 8.679

4.  Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Authors:  Yves Sznajer; H Annika Siitonen; Gaia Roversi; Chantal Dangoisse; Michèle Scaillon; France Ziereisen; Sylvie Tenoutasse; Marjo Kestilä; Lidia Larizza
Journal:  Eur J Pediatr       Date:  2007-03-20       Impact factor: 3.183

5.  Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.

Authors:  M John Hicks; Jill R Roth; Claudia A Kozinetz; Lisa L Wang
Journal:  J Clin Oncol       Date:  2007-02-01       Impact factor: 44.544

6.  A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Authors:  Richard Kellermayer; H Annika Siitonen; Kinga Hadzsiev; Marjo Kestilä; György Kosztolányi
Journal:  Arch Dermatol       Date:  2005-05

7.  RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

Authors:  Siddharth De; Jyoti Kumari; Richa Mudgal; Priyanka Modi; Shruti Gupta; Kazunobu Futami; Hideyuki Goto; Noralane M Lindor; Yasuhiro Furuichi; Debasisa Mohanty; Sagar Sengupta
Journal:  J Cell Sci       Date:  2012-02-22       Impact factor: 5.285

8.  RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Authors:  Alessandro Beghini; Pierangela Castorina; Gaia Roversi; Philippe Modiano; Lidia Larizza
Journal:  Am J Med Genet A       Date:  2003-07-30       Impact factor: 2.802

9.  Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Authors:  Lisa L Wang; Anu Gannavarapu; Claudia A Kozinetz; Moise L Levy; Richard A Lewis; Murali M Chintagumpala; Ramon Ruiz-Maldanado; Jose Contreras-Ruiz; Christopher Cunniff; Robert P Erickson; Dorit Lev; Maureen Rogers; Elaine H Zackai; Sharon E Plon
Journal:  J Natl Cancer Inst       Date:  2003-05-07       Impact factor: 13.506

10.  Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.

Authors:  M Miozzo; P Castorina; P Riva; L Dalprà; A M Fuhrman Conti; L Volpi; T S Hoe; A Khoo; J Wiegant; C Rosenberg; L Larizza
Journal:  Int J Cancer       Date:  1998-08-12       Impact factor: 7.396
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  7 in total

1.  CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Authors:  Sébastien Küry; Sandra Mercier; Gasnat Shaboodien; Thomas Besnard; Sébastien Barbarot; Nonhlanhla P Khumalo; Bongani M Mayosi; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

2.  DNA-PKcs-dependent phosphorylation of RECQL4 promotes NHEJ by stabilizing the NHEJ machinery at DNA double-strand breaks.

Authors:  Huiming Lu; Junhong Guan; Shih-Ya Wang; Guo-Min Li; Vilhelm A Bohr; Anthony J Davis
Journal:  Nucleic Acids Res       Date:  2022-06-10       Impact factor: 19.160

Review 3.  Human RecQ Helicases in DNA Double-Strand Break Repair.

Authors:  Huiming Lu; Anthony J Davis
Journal:  Front Cell Dev Biol       Date:  2021-02-25

4.  Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Authors:  Aude-Annick Suter; Peter Itin; Karl Heinimann; Munaza Ahmed; Tazeen Ashraf; Helen Fryssira; Usha Kini; Pablo Lapunzina; Peter Miny; Mette Sommerlund; Mohnish Suri; Signe Vaeth; Pradeep Vasudevan; Sabina Gallati
Journal:  Mol Genet Genomic Med       Date:  2016-02-24       Impact factor: 2.183

5.  Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

Authors:  Ji Young Yang; Young Bae Sohn; Jin-Sung Lee; Ja-Hyun Jang; Eun-So Lee
Journal:  JAAD Case Rep       Date:  2017-04-14

6.  Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

Authors:  Xinyue Zhang; Songmei Geng; Yi Zheng
Journal:  An Bras Dermatol       Date:  2020-05-14       Impact factor: 1.896

7.  Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Authors:  Elisa Adele Colombo; Laura Fontana; Gaia Roversi; Gloria Negri; Daniele Castiglia; Mauro Paradisi; Giovanna Zambruno; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246
  7 in total

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