Literature DB >> 15197508

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

Bethlehem Gelaw1, Said Ali, Joseph Becker.   

Abstract

We report on a 33 year old woman with Rothmund-Thompson syndrome, Klippel-Feil syndrome and osteosarcoma. We briefly discuss the relationship of these diseases and suggest that the cause for mental retardation is cerebral atrophy as shown on imaging.

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Year:  2004        PMID： 15197508     DOI： 10.1007/s00256-004-0798-2

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  12 in total

1.  Case report 760. Osteoblastic osteosarcoma (grade 4) with Rothmund-Thomson syndrome.

Authors:  F H Sim; E M DeVries; J S Miser; K K Unni
Journal:  Skeletal Radiol       Date:  1992       Impact factor: 2.199

2.  Clinical and roentgenological manifestations of the Klippel-Feil syndrome (congenital fusion of the cervical vertebrae, brevicollis); report of eight additional cases and review of the literature.

Authors:  M I SHOUL; M RITVO
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1952-09

3.  Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.

Authors:  N M Lindor; E M Devries; V V Michels; C R Schad; S M Jalal; K M Donovan; W A Smithson; L K Kvols; S N Thibodeau; G W Dewald
Journal:  Clin Genet       Date:  1996-03       Impact factor: 4.438

4.  Growth hormone deficiency in the Rothmund-Thomson syndrome.

Authors:  S Kaufmann; M Jones; F L Culler; K L Jones
Journal:  Am J Med Genet       Date:  1986-04

5.  [Rothmund-Thomson syndrome with glaucoma. An endocrinologic study].

Authors:  M Nathanson; M Dandine; J Gaudelus; S Mousset; D Lasry; R Perelman
Journal:  Ann Pediatr (Paris)       Date:  1983-09

6.  Rothmund-Thomson syndrome: a case report.

Authors:  D E Roth; L C Campisano; J P Callen; J H Hersh; J W Yusk
Journal:  Pediatr Dermatol       Date:  1989-12       Impact factor: 1.588

7.  Rothmund's syndrome. A cause of resorption of phalangeal tufts and dystrophic calcification.

Authors:  R M Maurer; O L Langford
Journal:  Radiology       Date:  1967-10       Impact factor: 11.105

8.  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

9.  Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

Authors:  K L Ying; J Oizumi; C J Curry
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

10.  Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

Authors:  R A Clarke; S Singh; H McKenzie; J H Kearsley; M Y Yip
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025
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  5 in total

1.  Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.

Authors:  Ilknur Altunay; Neslihan Fisek; Gonca Gokdemir; Damlanur Sakız; Umran Cetincelik
Journal:  Int Wound J       Date:  2010-09-21       Impact factor: 3.315

2.  RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.

Authors:  Deborah L Croteau; Marie L Rossi; Chandrika Canugovi; Jane Tian; Peter Sykora; Mahesh Ramamoorthy; Zheng Ming Wang; Dharmendra Kumar Singh; Mansour Akbari; Rajesh Kasiviswanathan; William C Copeland; Vilhelm A Bohr
Journal:  Aging Cell       Date:  2012-03-02       Impact factor: 9.304

Review 3.  Rothmund-Thomson syndrome.

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

4.  Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Authors:  M C van Rij; M L Grijsen; N M Appelman-Dijkstra; K B M Hansson; C A L Ruivenkamp; K Mulder; R van Doorn; A P Oranje; S G Kant
Journal:  Eur J Pediatr       Date:  2016-12-30       Impact factor: 3.183

Review 5.  Protective Mechanisms Against DNA Replication Stress in the Nervous System.

Authors:  Clara Forrer Charlier; Rodrigo A P Martins
Journal:  Genes (Basel)       Date:  2020-06-30       Impact factor: 4.096
  5 in total

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