These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
154 related articles for article (PubMed ID: 38467731)
21. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175 [TBL] [Abstract][Full Text] [Related]
22. Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. Sanchez JC; Kwan EX; Pohl TJ; Amemiya HM; Raghuraman MK; Brewer BJ PLoS Genet; 2017 Oct; 13(10):e1007041. PubMed ID: 29036220 [TBL] [Abstract][Full Text] [Related]
24. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. Shalev SA; Khayat M; Etty DS; Elpeleg O Am J Med Genet A; 2015 Mar; 167A(3):607-11. PubMed ID: 25691413 [TBL] [Abstract][Full Text] [Related]
25. Tissue-Specific DNA Replication Defects in McDaniel SL; Hollatz AJ; Branstad AM; Gaskill MM; Fox CA; Harrison MM Genetics; 2020 Feb; 214(2):355-367. PubMed ID: 31818869 [TBL] [Abstract][Full Text] [Related]
27. A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss. Kim Y; Kim HR; Kim J; Shin JW; Park HJ; Choi JY; Kim UK; Lee KA Biochem Biophys Res Commun; 2013 Jan; 430(3):1147-50. PubMed ID: 23246836 [TBL] [Abstract][Full Text] [Related]
28. Skipping Nonsense to Maintain Function: The Paradigm of Meulemans L; Mesman RLS; Caputo SM; Krieger S; Guillaud-Bataille M; Caux-Moncoutier V; Léone M; Boutry-Kryza N; Sokolowska J; Révillion F; Delnatte C; Tubeuf H; Soukarieh O; Bonnet-Dorion F; Guibert V; Bronner M; Bourdon V; Lizard S; Vilquin P; Privat M; Drouet A; Grout C; Calléja FMGR; Golmard L; Vrieling H; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Vreeswijk MPG; Martins A; Gaildrat P Cancer Res; 2020 Apr; 80(7):1374-1386. PubMed ID: 32046981 [TBL] [Abstract][Full Text] [Related]
29. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Magyar CL; Murdock DR; Burrage LC; Dai H; Lalani SR; Lewis RA; Lin Y; Astudillo MF; Rosenfeld JA; Tran AA; Gibson JB; ; Bacino CA; Lee BH; Chao HT Am J Med Genet A; 2022 Jun; 188(6):1868-1874. PubMed ID: 35194938 [TBL] [Abstract][Full Text] [Related]
30. Cdt1 variants reveal unanticipated aspects of interactions with cyclin/CDK and MCM important for normal genome replication. Pozo PN; Matson JP; Cole Y; Kedziora KM; Grant GD; Temple B; Cook JG Mol Biol Cell; 2018 Dec; 29(25):2989-3002. PubMed ID: 30281379 [TBL] [Abstract][Full Text] [Related]
31. Exon identity influences splicing induced by exonic variants and in silico prediction efficacy. Martin N; Bergougnoux A; Baatallah N; Chevalier B; Varilh J; Baux D; Costes B; Fanen P; Raynal C; Sermet-Gaudelus I; Girodon E; Taulan-Cadars M; Hinzpeter A J Cyst Fibros; 2021 May; 20(3):464-472. PubMed ID: 33341408 [TBL] [Abstract][Full Text] [Related]
32. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052 [TBL] [Abstract][Full Text] [Related]
33. Follicle-stimulating hormone receptor (FSHR) alternative skipping of exon 2 or 3 affects ovarian response to FSH. Karakaya C; Guzeloglu-Kayisli O; Hobbs RJ; Gerasimova T; Uyar A; Erdem M; Oktem M; Erdem A; Gumuslu S; Ercan D; Sakkas D; Comizzoli P; Seli E; Lalioti MD Mol Hum Reprod; 2014 Jul; 20(7):630-43. PubMed ID: 24670307 [TBL] [Abstract][Full Text] [Related]
34. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. Aissat A; de Becdelièvre A; Golmard L; Vasseur C; Costa C; Chaoui A; Martin N; Costes B; Goossens M; Girodon E; Fanen P; Hinzpeter A Hum Mutat; 2013 Jun; 34(6):873-81. PubMed ID: 23420618 [TBL] [Abstract][Full Text] [Related]
35. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. de Munnik SA; Otten BJ; Schoots J; Bicknell LS; Aftimos S; Al-Aama JY; van Bever Y; Bober MB; Borm GF; Clayton-Smith J; Deal CL; Edrees AY; Feingold M; Fryer A; van Hagen JM; Hennekam RC; Jansweijer MC; Johnson D; Kant SG; Opitz JM; Ramadevi AR; Reardon W; Ross A; Sarda P; Schrander-Stumpel CT; Sluiter AE; Temple IK; Terhal PA; Toutain A; Wise CA; Wright M; Skidmore DL; Samuels ME; Hoefsloot LH; Knoers NV; Brunner HG; Jackson AP; Bongers EM Am J Med Genet A; 2012 Nov; 158A(11):2733-42. PubMed ID: 23023959 [TBL] [Abstract][Full Text] [Related]
36. Bypass of premature stop codons and generation of functional BRCA2 by exon skipping. Stauffer S; Biswas K; Sharan SK J Hum Genet; 2020 Sep; 65(9):805-809. PubMed ID: 32393813 [TBL] [Abstract][Full Text] [Related]
37. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants. Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Infante M; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco-Sampedro EA Clin Chem; 2024 Jan; 70(1):319-338. PubMed ID: 37725924 [TBL] [Abstract][Full Text] [Related]
38. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing. Barny I; Perrault I; Rio M; Dollfus H; Defoort-Dhellemmes S; Kaplan J; Rozet JM; Gerard X Adv Exp Med Biol; 2019; 1185():189-195. PubMed ID: 31884610 [TBL] [Abstract][Full Text] [Related]
39. Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Barroso-Gil M; Olinger E; Ramsbottom SA; Molinari E; Miles CG; Sayer JA Mol Genet Genomic Med; 2021 Dec; 9(12):e1603. PubMed ID: 33486889 [TBL] [Abstract][Full Text] [Related]
40. TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing. Kiianitsa K; Lukes ME; Hayes BJ; Brutman JN; Valdmanis PN; Bird TD; Raskind WH; Korvatska O Brain; 2024 Jul; 147(7):2368-2383. PubMed ID: 38226698 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]