160 related articles for article (PubMed ID: 25120469)
1. 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]
2. Rothmund-Thomson syndrome.
Larizza L; Roversi G; Volpi L
Orphanet J Rare Dis; 2010 Jan; 5():2. PubMed ID: 20113479
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
Sánchez-Padilla AP; Valencia-Herrera AM; Toledo-Bahena ME; Mena-Cedillos CA; Toussaint-Caire S
Bol Med Hosp Infant Mex; 2022; 79(1):56-61. PubMed ID: 35086131
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
Gutiérrez-Jimeno M; Panizo-Morgado E; Tamayo I; San Julián M; Catalán-Lambán A; Alonso MM; Patiño-García A
NPJ Genom Med; 2020; 5():51. PubMed ID: 33294214
[TBL] [Abstract][Full Text] [Related]
13. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.
Sznajer Y; Siitonen HA; Roversi G; Dangoisse C; Scaillon M; Ziereisen F; Tenoutasse S; Kestilä M; Larizza L
Eur J Pediatr; 2008 Feb; 167(2):175-81. PubMed ID: 17372760
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
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. Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.
Barisonek KL; Protzman NM; Wobst GM; Brigido SA
J Foot Ankle Surg; 2016; 55(2):291-3. PubMed ID: 25441286
[TBL] [Abstract][Full Text] [Related]
18. 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]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]