130 related articles for article (PubMed ID: 33409099)
1. Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.
Ali Z; Manaktala PS; Sarkisian S; Rizvi M
Cureus; 2020 Dec; 12(12):e11865. PubMed ID: 33409099
[TBL] [Abstract][Full Text] [Related]
2. Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H; Takemoto M; Murakami H; Ihara K; Kosaki R; Motegi SI; Taniguchi A; Matsuo M; Yamazaki N; Nishigori C; Takita J; Koshizaka M; Maezawa Y; Yokote K
Pediatr Int; 2022 Jan; 64(1):e15120. PubMed ID: 35616152
[TBL] [Abstract][Full Text] [Related]
3. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Wang LL; Gannavarapu A; Kozinetz CA; Levy ML; Lewis RA; Chintagumpala MM; Ruiz-Maldanado R; Contreras-Ruiz J; Cunniff C; Erickson RP; Lev D; Rogers M; Zackai EH; Plon SE
J Natl Cancer Inst; 2003 May; 95(9):669-74. PubMed ID: 12734318
[TBL] [Abstract][Full Text] [Related]
4. Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.
Yadav S; Thakur S; Kohlhase J; Bhari N; Kabra M; Gupta N
J Pediatr Genet; 2019 Sep; 8(3):163-167. PubMed ID: 31406625
[TBL] [Abstract][Full Text] [Related]
5. Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
Lorenzo C; Travessa AM; Ferreira AC; Modamio-Høybjør S; Heath KE; Pereira C
Am J Med Genet A; 2023 Jan; 191(1):280-283. PubMed ID: 36164748
[TBL] [Abstract][Full Text] [Related]
6. Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ; Di Lazzaro Filho R; Bertola DR; Hoch NC
Front Aging; 2023; 4():1296409. PubMed ID: 38021400
[TBL] [Abstract][Full Text] [Related]
7. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA; Itin P; Heinimann K; Ahmed M; Ashraf T; Fryssira H; Kini U; Lapunzina P; Miny P; Sommerlund M; Suri M; Vaeth S; Vasudevan P; Gallati S
Mol Genet Genomic Med; 2016 May; 4(3):359-66. PubMed ID: 27247962
[TBL] [Abstract][Full Text] [Related]
8. Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
van Rij MC; Grijsen ML; Appelman-Dijkstra NM; Hansson KB; Ruivenkamp CA; Mulder K; van Doorn R; Oranje AP; Kant SG
Eur J Pediatr; 2017 Feb; 176(2):279-283. PubMed ID: 28039508
[TBL] [Abstract][Full Text] [Related]
9. Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Lu L; Jin W; Wang LL
Ageing Res Rev; 2017 Jan; 33():30-35. PubMed ID: 27287744
[TBL] [Abstract][Full Text] [Related]
10. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
Beghini A; Castorina P; Roversi G; Modiano P; Larizza L
Am J Med Genet A; 2003 Jul; 120A(3):395-9. PubMed ID: 12838562
[TBL] [Abstract][Full Text] [Related]
11. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung NF; Nguyen TTM; Lu L; Kucharski TJ; Rousseau J; Molidperee S; Atienza J; Gamache I; Jin W; Plon SE; Lee BH; Teodoro JG; Wang LL; Campeau PM
Am J Hum Genet; 2019 Sep; 105(3):625-630. PubMed ID: 31303264
[TBL] [Abstract][Full Text] [Related]
12. Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.
Zhang Y; Qin W; Wang H; Lin Z; Tang Z; Xu Z
J Dermatol; 2021 Oct; 48(10):1511-1517. PubMed ID: 34155702
[TBL] [Abstract][Full Text] [Related]
13. Rothmund-Thomson syndrome (RTS) with osteosarcoma due to
Salih A; Inoue S; Onwuzurike N
BMJ Case Rep; 2018 Jan; 2018():. PubMed ID: 29367366
[TBL] [Abstract][Full Text] [Related]
14. Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
Gui B; Song Y; Hu X; Li H; Qin Z; Su J; Li C; Fan X; Li M; Luo J; Feng Y; Song L; Chen S; Gong C; Shen Y
Gene; 2018 May; 654():110-115. PubMed ID: 29462647
[TBL] [Abstract][Full Text] [Related]
15. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J; Aral B; Vabres P; Holder-Espinasse M; Mégarbané A; Gauthier S; Capra V; Pierquin G; Callier P; Baumann C; Pasquier L; Baujat G; Martorell L; Rodriguez A; Brady AF; Boralevi F; González-Enseñat MA; Rio M; Bodemer C; Philip N; Cordier MP; Goldenberg A; Demeer B; Wright M; Blair E; Puzenat E; Parent P; Sznajer Y; Francannet C; DiDonato N; Boute O; Barlogis V; Moldovan O; Bessis D; Coubes C; Tardieu M; Cormier-Daire V; Sousa AB; Franques J; Toutain A; Tajir M; Elalaoui SC; Geneviève D; Thevenon J; Courcet JB; Rivière JB; Collet C; Gigot N; Faivre L; Thauvin-Robinet C
Clin Genet; 2015 Mar; 87(3):244-51. PubMed ID: 24635570
[TBL] [Abstract][Full Text] [Related]
16. Cancer risk among RECQL4 heterozygotes.
Martin-Giacalone BA; Rideau TT; Scheurer ME; Lupo PJ; Wang LL
Cancer Genet; 2022 Apr; 262-263():107-110. PubMed ID: 35219053
[TBL] [Abstract][Full Text] [Related]
17. De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic
Jiang C; Zhang H; Zhao C; Wang L; Hu X; Pan Z
Blood Sci; 2023 Apr; 5(2):125-130. PubMed ID: 37228773
[TBL] [Abstract][Full Text] [Related]
18. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Lindor NM; Furuichi Y; Kitao S; Shimamoto A; Arndt C; Jalal S
Am J Med Genet; 2000 Jan; 90(3):223-8. PubMed ID: 10678659
[TBL] [Abstract][Full Text] [Related]
19. Rothmund-thomson syndrome: a 13-year follow-up.
Guerrero-González GA; Martínez-Cabriales SA; Hernández-Juárez AA; de Jesús Lugo-Trampe J; Espinoza-González NA; Gómez-Flores M; Ocampo-Candiani J
Case Rep Dermatol; 2014 May; 6(2):176-9. PubMed ID: 25120469
[TBL] [Abstract][Full Text] [Related]
20. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L; Huetzen MA; Moreno-Andrés D; Kalb R; McKee S; Hsieh TC; Seibt A; Schouwink M; Lalani S; Faqeih EA; Brunet T; Boor P; Neveling K; Hoischen A; Hildebrandt B; Graf E; Lu L; Jin W; Schaper J; Omer JA; Demaret T; Fleischer N; Schindler D; Krawitz P; Mayatepek E; Wieczorek D; Wang LL; Antonin W; Jachimowicz RD; von Felbert V; Distelmaier F
Genet Med; 2023 Jul; 25(7):100836. PubMed ID: 37013901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]