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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 38956616)

  • 1. Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.
    Yang F; Wang M
    BMC Med Genomics; 2024 Jul; 17(1):175. PubMed ID: 38956616
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
    Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
    Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
    Lou Y; Shi X; Su G; Guo Y; Gao L; Wang Y; Miao P; Feng J
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2389. PubMed ID: 38337158
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
    Nuovo S; Brankovic V; Caputi C; Casella A; Nigro V; Leuzzi V; Valente EM
    Am J Med Genet A; 2021 May; 185(5):1575-1581. PubMed ID: 33638601
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
    Santos-Rebouças CB; Belet S; Guedes de Almeida L; Ribeiro MG; Medina-Acosta E; Bahia PR; Alves da Silva AF; Lima dos Santos F; Borges de Lacerda GC; Pimentel MM; Froyen G
    Eur J Hum Genet; 2014 May; 22(5):644-51. PubMed ID: 24105372
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.
    Bogliş A; Cosma AS; Tripon F; Bãnescu C
    Medicine (Baltimore); 2020 Aug; 99(33):e21632. PubMed ID: 32872024
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay.
    Zhou F; Zhong H; Wu B; Cui Y; Li J; Jia X; Yu C; Li D; Shu J; Cai C
    Mol Biol Rep; 2024 Aug; 51(1):899. PubMed ID: 39115759
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the phenotypic spectrum associated with OPHN1 variants.
    Schwartz TS; Wojcik MH; Pelletier RC; Edward HL; Picker JD; Holm IA; Towne MC; Beggs AH; Agrawal PB
    Eur J Med Genet; 2019 Feb; 62(2):137-143. PubMed ID: 29960046
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel
    Han JY; Kim TY; Gwack J; Park J
    Int J Mol Sci; 2024 Sep; 25(19):. PubMed ID: 39408661
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
    Lian R; Wu G; Xu F; Zhao S; Li M; Wang H; Jia T; Dong Y
    Orphanet J Rare Dis; 2024 Jul; 19(1):281. PubMed ID: 39075495
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.
    Zhao X; Wang Y; Cai A; Mei S; Liu N; Kong X
    Eur J Med Genet; 2021 Jan; 64(1):104101. PubMed ID: 33189936
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
    Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
    Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].
    Wang C; Qiu X; Hu H; Jin B; Cheng Y; Zhao Y; Zhou C; Ma L; Zhang Y; Zheng F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):865-870. PubMed ID: 37368392
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
    Chabrol B; Girard N; N'Guyen K; Gérard A; Carlier M; Villard L; Philip N
    Am J Med Genet A; 2005 Nov; 138(4):314-7. PubMed ID: 16158428
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.
    Barresi S; Tomaselli S; Athanasiadis A; Galeano F; Locatelli F; Bertini E; Zanni G; Gallo A
    PLoS One; 2014; 9(3):e91351. PubMed ID: 24637888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
    Umair M; Ballow M; Asiri A; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Aloraini T; Abdelhakim M; Althagafi AT; Kafkas S; Alsubaie L; Alrifai MT; Hoehndorf R; Alfares A; Alfadhel M
    Clin Genet; 2020 Dec; 98(6):555-561. PubMed ID: 32869858
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
    Wongkittichote P; Wegner DJ; Shinawi MS
    J Hum Genet; 2021 Jul; 66(7):717-724. PubMed ID: 33517344
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Identification of a novel TBR1 gene variant in a Chinese pedigree affected with intellectual developmental disorder with autism and speech delay].
    Cao X; Li J; Song H; Zhu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):933-936. PubMed ID: 34625926
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
    Qian Y; Wu B; Lu Y; Zhou W; Wang S; Wang H
    BMC Med Genet; 2020 Feb; 21(1):31. PubMed ID: 32050918
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.