103 related articles for article (PubMed ID: 35063693)
1. Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Chin HL; Lin S; Dalmann J; Modi B; Alderman E; Salman A; Del Bel KL; Lehman A; Turvey SE; Boerkoel CF
Eur J Med Genet; 2022 Mar; 65(3):104427. PubMed ID: 35063693
[TBL] [Abstract][Full Text] [Related]
2. KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K; Bellad A; Prasad P; Girimaji SC; Muthusamy B
BMC Med Genet; 2020 Jun; 21(1):136. PubMed ID: 32590954
[TBL] [Abstract][Full Text] [Related]
3. Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature.
Yue L; Jin M; Wang X; Wang J; Chen L; Jia R; Yang Z; Yang F; Li J; Chen C; Zheng H; Yang H
Front Pediatr; 2022; 10():806752. PubMed ID: 35311058
[TBL] [Abstract][Full Text] [Related]
4. Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.
Meszarosova AU; Lastuvkova J; Rennerova L; Hitka P; Cihlar F; Seeman P; Safka Brozkova D
Clin Dysmorphol; 2020 Oct; 29(4):197-201. PubMed ID: 32657846
[TBL] [Abstract][Full Text] [Related]
5. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L; Fish RJ; Shamseldin HE; Voisin N; Tran Mau-Them F; Preiksaitiene E; Monroe GR; Lai A; Putoux A; Allias F; Ambusaidi Q; Ambrozaityte L; Cimbalistienė L; Delafontaine J; Guex N; Hashem M; Kurdi W; Jamuar SS; Ying LJ; Bonnard C; Pippucci T; Pradervand S; Roechert B; van Hasselt PM; Wiederkehr M; Wright CF; ; Xenarios I; van Haaften G; Shaw-Smith C; Schindewolf EM; Neerman-Arbez M; Sanlaville D; Lesca G; Guibaud L; Reversade B; Chelly J; Kučinskas V; Alkuraya FS; Reymond A
Am J Hum Genet; 2018 Jan; 102(1):116-132. PubMed ID: 29290337
[TBL] [Abstract][Full Text] [Related]
6. Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.
Filatova A; Freire V; Lozier E; Konovalov F; Bessonova L; Iudina E; Gnetetskaya V; Kanivets I; Korostelev S; Skoblov M
Clin Genet; 2019 Mar; 95(3):440-441. PubMed ID: 30485398
[No Abstract] [Full Text] [Related]
7. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh SG; Scala M; Beetz C; Helman G; Stanley V; Yang X; Breuss MW; Mazaheri N; Selim L; Hadipour F; Pais L; Stutterd CA; Karageorgou V; Begtrup A; Crunk A; Juusola J; Willaert R; Flore LA; Kennelly K; Spencer C; Brown M; Trapane P; Hurst ACE; Lane Rutledge S; Goodloe DH; McDonald MT; Shashi V; Schoch K; ; Tomoum H; Zaitoun R; Hadipour Z; Galehdari H; Pagnamenta AT; Mojarrad M; Sedaghat A; Dias P; Quintas S; Eslahi A; Shariati G; Bauer P; Simons C; Houlden H; Issa MY; Zaki MS; Maroofian R; Gleeson JG
Eur J Hum Genet; 2021 Feb; 29(2):271-279. PubMed ID: 32901138
[TBL] [Abstract][Full Text] [Related]
8. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Mor-Shaked H; Salah S; Yanovsky-Dagan S; Meiner V; Atawneh OM; Abu-Libdeh B; Elpeleg O; Harel T
Clin Genet; 2021 Apr; 99(4):577-582. PubMed ID: 33410501
[TBL] [Abstract][Full Text] [Related]
9. Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D; Thompson JA; Charng J; Chelva E; McLenachan S; Chen SC; Zhang D; McLaren TL; Lamey TM; Constable IJ; De Roach JN; Aung-Htut MT; Adams A; Fletcher S; Wilton SD; Chen FK
Mol Genet Genomic Med; 2020 Jul; 8(7):e1259. PubMed ID: 32627976
[TBL] [Abstract][Full Text] [Related]
10. Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
Agiannitopoulos K; Papadopoulou E; Tsaousis GN; Pepe G; Kampouri S; Kocdor MA; Nasioulas G
BMC Med Genet; 2019 Jul; 20(1):131. PubMed ID: 31349801
[TBL] [Abstract][Full Text] [Related]
11. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U; Hata R; McKusick VA; Shinkai H; Hoyme HE; Pyeritz RE; Byers PH
Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S; Nardella G; Castellana S; Micale L; Copetti M; Fusco C; Castori M
Am J Med Genet A; 2021 Mar; 185(3):955-965. PubMed ID: 33369135
[TBL] [Abstract][Full Text] [Related]
14. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Korman SH; Gutman A; Brooks R; Sinnathamby T; Gregersen N; Andresen BS
Mol Genet Metab; 2004 Jun; 82(2):121-9. PubMed ID: 15171999
[TBL] [Abstract][Full Text] [Related]
15. Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Mero IL; Mørk HH; Sheng Y; Blomhoff A; Opheim GL; Erichsen A; Vigeland MD; Selmer KK
Hum Mol Genet; 2017 Oct; 26(19):3792-3796. PubMed ID: 28934391
[TBL] [Abstract][Full Text] [Related]
16. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG; Waddell LB; Ghaoui R; Evesson FJ; Cummings BB; Bryen SJ; Joshi H; Wang MX; Brammah S; Kritharides L; Corbett A; MacArthur DG; Cooper ST
Eur J Hum Genet; 2019 Aug; 27(8):1267-1273. PubMed ID: 31024060
[TBL] [Abstract][Full Text] [Related]
17. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
[TBL] [Abstract][Full Text] [Related]
18. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM; Akinci A; Andrew SF; Siğirci A; Hirschhorn JN; Rosenfeld RG; Dauber A; Hwa V
Horm Res Paediatr; 2014; 82(5):344-52. PubMed ID: 25376329
[TBL] [Abstract][Full Text] [Related]
19. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
[TBL] [Abstract][Full Text] [Related]
20. Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.
Li N; Xu Y; Yu T; Yao R; Chen J; Luo C; Wang J
Gene; 2020 Oct; 757():144938. PubMed ID: 32640305
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
