BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

112 related articles for article (PubMed ID: 34625946)

  • 1. [Perlman syndrome research progress].
    Wang Z; Liu J; Yang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):1021-1024. PubMed ID: 34625946
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.
    Morris MR; Astuti D; Maher ER
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):106-13. PubMed ID: 23613427
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Perlman syndrome: report, prenatal findings and review.
    Alessandri JL; Cuillier F; Ramful D; Ernould S; Robin S; de Napoli-Cocci S; Rivière JP; Rossignol S
    Am J Med Genet A; 2008 Oct; 146A(19):2532-7. PubMed ID: 18780370
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
    Soma N; Higashimoto K; Imamura M; Saitoh A; Soejima H; Nagasaki K
    Am J Med Genet A; 2017 Apr; 173(4):1077-1081. PubMed ID: 28328139
    [TBL] [Abstract][Full Text] [Related]  

  • 5. DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.
    Al Ghadeer HA; Alghazal FA; Alessa MA; Alghafli JA; Alkhalaf GI; Bumejdad HN; Alherz RM; Alshaikh Saleh RA; Almumtin KA; Abu Sinah AK
    Cureus; 2023 Dec; 15(12):e49777. PubMed ID: 38161545
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare clinical entity Perlman syndrome: is cholestasis a new finding?
    Demirel G; Oguz SS; Celik IH; Uras N; Erdeve O; Dilmen U
    Congenit Anom (Kyoto); 2011 Mar; 51(1):43-5. PubMed ID: 20726997
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
    Astuti D; Morris MR; Cooper WN; Staals RH; Wake NC; Fews GA; Gill H; Gentle D; Shuib S; Ricketts CJ; Cole T; van Essen AJ; van Lingen RA; Neri G; Opitz JM; Rump P; Stolte-Dijkstra I; Müller F; Pruijn GJ; Latif F; Maher ER
    Nat Genet; 2012 Feb; 44(3):277-84. PubMed ID: 22306653
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.
    Neri G; Martini-Neri ME; Katz BE; Opitz JM
    Am J Med Genet A; 2013 Nov; 161A(11):2691-6. PubMed ID: 24166810
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Loss of
    Hunter RW; Liu Y; Manjunath H; Acharya A; Jones BT; Zhang H; Chen B; Ramalingam H; Hammer RE; Xie Y; Richardson JA; Rakheja D; Carroll TJ; Mendell JT
    Genes Dev; 2018 Jul; 32(13-14):903-908. PubMed ID: 29950491
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.
    Ferianec V; Bartova M
    J Matern Fetal Neonatal Med; 2014 Oct; 27(15):1607-9. PubMed ID: 24215131
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Overgrowth syndromes and pediatric cancers: how many roads lead to
    Bharathavikru R; Hastie ND
    Genes Dev; 2018 Aug; 32(15-16):993-995. PubMed ID: 30068702
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Perlman syndrome--a cause of enlarged, hyperechogenic kidneys.
    Chitty LS; Clark T; Maxwell D
    Prenat Diagn; 1998 Nov; 18(11):1163-8. PubMed ID: 9854726
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Perlman familial nephroblastomatosis syndrome.
    Greenberg F; Stein F; Gresik MV; Finegold MJ; Carpenter RJ; Riccardi VM; Beaudet AL
    Am J Med Genet; 1986 May; 24(1):101-10. PubMed ID: 3010722
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Perlman syndrome: four additional cases and review.
    Henneveld HT; van Lingen RA; Hamel BC; Stolte-Dijkstra I; van Essen AJ
    Am J Med Genet; 1999 Oct; 86(5):439-46. PubMed ID: 10508986
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.
    Neri G; Martini-Neri ME; Katz BE; Opitz JM
    Am J Med Genet; 1984 Sep; 19(1):195-207. PubMed ID: 6093533
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
    Higashimoto K; Maeda T; Okada J; Ohtsuka Y; Sasaki K; Hirose A; Nomiyama M; Takayanagi T; Fukuzawa R; Yatsuki H; Koide K; Nishioka K; Joh K; Watanabe Y; Yoshiura K; Soejima H
    Eur J Hum Genet; 2013 Nov; 21(11):1316-9. PubMed ID: 23486540
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Perlman syndrome: report of a case with additional radiographic findings.
    Herman TE; McAlister WH
    Pediatr Radiol; 1995 Nov; 25 Suppl 1():S70-2. PubMed ID: 8577560
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs.
    Łabno A; Warkocki Z; Kuliński T; Krawczyk PS; Bijata K; Tomecki R; Dziembowski A
    Nucleic Acids Res; 2016 Dec; 44(21):10437-10453. PubMed ID: 27431325
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis.
    Pirouz M; Wang CH; Liu Q; Ebrahimi AG; Shamsi F; Tseng YH; Gregory RI
    Nat Commun; 2020 May; 11(1):2619. PubMed ID: 32457326
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
    Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
    Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.