146 related articles for article (PubMed ID: 33304389)
1. Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.
Sun H; Han L; Zhang X; Hao X; Zhou X; Pan R; Zhang H; He Y
Front Genet; 2020; 11():593688. PubMed ID: 33304389
[TBL] [Abstract][Full Text] [Related]
2. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Sewani M; Nugent K; Blackburn PR; Tarnowski JM; Hernandez-Garcia A; Amiel J; Whalen S; Keren B; Courtin T; Rosenfeld JA; Yang Y; Patterson MC; Pichurin P; McLean SD; Scott DA
Am J Med Genet A; 2020 Apr; 182(4):652-658. PubMed ID: 31883306
[TBL] [Abstract][Full Text] [Related]
3. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Carlston CM; Bleyl SB; Andrews A; Meyers L; Brown S; Bayrak-Toydemir P; Bale JF; Botto LD
Am J Med Genet A; 2019 May; 179(5):792-796. PubMed ID: 30773818
[TBL] [Abstract][Full Text] [Related]
4. Case Report: Non-ossifying fibromas with pathologic fractures in a patient with
Writzl K; Mavčič B; Maver A; Hodžić A; Peterlin B
Front Genet; 2023; 14():1167054. PubMed ID: 37533431
[TBL] [Abstract][Full Text] [Related]
5. Novel hemizygous loss-of-function variant in NONO identified in a South African boy.
Coetzer KC; Moosa S
Am J Med Genet A; 2022 Jan; 188(1):373-376. PubMed ID: 34549882
[TBL] [Abstract][Full Text] [Related]
6. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Scott DA; Hernandez-Garcia A; Azamian MS; Jordan VK; Kim BJ; Starkovich M; Zhang J; Wong LJ; Darilek SA; Breman AM; Yang Y; Lupski JR; Jiwani AK; Das B; Lalani SR; Iglesias AD; Rosenfeld JA; Xia F
J Med Genet; 2017 Jan; 54(1):47-53. PubMed ID: 27550220
[TBL] [Abstract][Full Text] [Related]
7. 3'UTR Deletion of
Giuffrida MG; Goldoni M; Genovesi ML; Carpentieri G; Torres B; Deac AD; Cecchetti S; Martinelli A; Vaisfeld A; Flex E; Bernardini L
Diagnostics (Basel); 2022 Sep; 12(10):. PubMed ID: 36292043
[No Abstract] [Full Text] [Related]
8. Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
Yan X; Hu Y; Zhang X; Gao X; Zhao Y; Peng H; Ouyang L; Zhang C
BMC Med Genomics; 2024 Jan; 17(1):23. PubMed ID: 38238844
[TBL] [Abstract][Full Text] [Related]
9. Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.
Reinstein E; Tzur S; Cohen R; Bormans C; Behar DM
Eur J Hum Genet; 2016 Nov; 24(11):1635-1638. PubMed ID: 27329731
[TBL] [Abstract][Full Text] [Related]
10. A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T; Sugie A; Nitta Y; Maki R; Suzuki T; Shinkai Y; Watanabe Y; Nakano Y; Ichikawa K; Okamoto N; Utsuno Y; Koshimizu E; Fujita A; Hamanaka K; Uchiyama Y; Tsuchida N; Miyake N; Misawa K; Mizuguchi T; Miyatake S; Matsumoto N
Sci Rep; 2023 Jan; 13(1):975. PubMed ID: 36653413
[TBL] [Abstract][Full Text] [Related]
11. X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review.
Xi H; Ma L; Yin X; Yang P; Li X; Li L
Mol Genet Metab Rep; 2024 Mar; 38():101054. PubMed ID: 38469091
[TBL] [Abstract][Full Text] [Related]
12. Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F; Beck AE; Susie B; Tobias B; Begtrup A; Biskup S; Caluseriu O; Delanty N; Fröhlich C; Greally MT; Karnstedt M; Klöckner C; Kurtzberg J; Schubert S; Schulze M; Weidenbach M; Westphal DS; White M; Wolf CM; Zyskind J; Popp B; Strehlow V
Am J Med Genet A; 2023 Feb; 191(2):469-478. PubMed ID: 36426740
[TBL] [Abstract][Full Text] [Related]
13. A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome.
Wu Y; Sun H; He Y; Zhang H
Hereditas; 2021 Jan; 158(1):6. PubMed ID: 33407909
[TBL] [Abstract][Full Text] [Related]
14. Case Report: A Novel Intronic Mutation in
Peng Q; Ma K; Wang L; Zhu Y; Zhang Y; Rao C; Luo D; Jiang Z; Lai W; Lu H; Duan C; Zhou Z; Lu X
Front Pediatr; 2022; 10():889089. PubMed ID: 35712626
[TBL] [Abstract][Full Text] [Related]
15. An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Yamamura T; Nozu K; Miyoshi Y; Nakanishi K; Fujimura J; Horinouchi T; Minamikawa S; Mori N; Fujimaru R; Nakanishi K; Ninchoji T; Kaito H; Mariko TI; Morioka I; Matsuo M; Iijima K
BMC Nephrol; 2017 Dec; 18(1):353. PubMed ID: 29202719
[TBL] [Abstract][Full Text] [Related]
16. Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome.
Jia Y; Chen J; Zhong J; He X; Zeng L; Wang Y; Li J; Xia S; Ye E; Zhao J; Ke B; Li C
Clin Genet; 2023 Jan; 103(1):79-86. PubMed ID: 36148623
[TBL] [Abstract][Full Text] [Related]
17. Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.
Sun J; Zhou Z; Weng C; Wang C; Chen J; Feng X; Yu P; Qi M
Clin Exp Nephrol; 2020 Aug; 24(8):657-665. PubMed ID: 32394213
[TBL] [Abstract][Full Text] [Related]
18. Overexpression of p54
Yamamoto R; Osawa T; Sasaki Y; Yamamoto S; Anai M; Izumi K; Matsumura Y; Sakai J; Aburatani H; Mizokami A; Kodama T; Tanaka T
Oncotarget; 2018 Feb; 9(12):10510-10524. PubMed ID: 29535823
[TBL] [Abstract][Full Text] [Related]
19. A novel NONO nonsense variant in a fetus with renal abnormalities.
Rodriguez-Revenga L; Nadal A; Borobio V; Álvarez-Mora MI; Madrigal I; Pauta M; Borrell A
Prenat Diagn; 2024 Jan; 44(1):77-80. PubMed ID: 38110236
[TBL] [Abstract][Full Text] [Related]
20. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.
Zhi X; Ai Q; Sheng W; Yu Y; Shu J; Yu C; Yu X; Li D; Cai C
Front Genet; 2022; 13():852764. PubMed ID: 35432457
[No Abstract] [Full Text] [Related]
[Next] [New Search]
