164 related articles for article (PubMed ID: 23613427)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. [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]
8. 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]
9. 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]
10. A role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathway.
Chang HM; Triboulet R; Thornton JE; Gregory RI
Nature; 2013 May; 497(7448):244-8. PubMed ID: 23594738
[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. 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]
13. 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]
14. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
Chen J; Hu C; Ren L; Li J; Lei T; Chen S; Zhao P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):48-51. PubMed ID: 34964966
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita.
Friedman CD; DeBrosse S; Mitchell A; Horn J; Merrill M
J Pediatr Hematol Oncol; 2023 Jan; 45(1):e128-e130. PubMed ID: 35700413
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Isidor B; Bourdeaut F; Lafon D; Plessis G; Lacaze E; Kannengiesser C; Rossignol S; Pichon O; Briand A; Martin-Coignard D; Piccione M; David A; Delattre O; Jeanpierre C; Sévenet N; Le Caignec C
Eur J Hum Genet; 2013 Jul; 21(7):784-7. PubMed ID: 23169491
[TBL] [Abstract][Full Text] [Related]
20. A case of Perlman syndrome presenting with hemorrhagic hemangioma.
Pirgon O; Atabek ME; Akin F; Sert A
J Pediatr Hematol Oncol; 2006 Aug; 28(8):531-3. PubMed ID: 16912594
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]