BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 38782218)

  • 1. A rare ACAN non-canonical splicing-site intron variant results in familial short stature.
    Xu X; Zhang X; Zhang M; Wang J; Lv L; Meng Y; Shu J; Cai C
    Gene; 2024 Oct; 925():148602. PubMed ID: 38782218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
    Xu D; Sun C; Zhou Z; Wu B; Yang L; Chang Z; Zhang M; Xi L; Cheng R; Ni J; Luo F
    BMC Med Genet; 2018 May; 19(1):79. PubMed ID: 29769040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
    Nilsson O; Guo MH; Dunbar N; Popovic J; Flynn D; Jacobsen C; Lui JC; Hirschhorn JN; Baron J; Dauber A
    J Clin Endocrinol Metab; 2014 Aug; 99(8):E1510-8. PubMed ID: 24762113
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
    Quintos JB; Guo MH; Dauber A
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):927-32. PubMed ID: 25741789
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical Characteristics of
    Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
    Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
    Stattin EL; Lindblom K; Struglics A; Önnerfjord P; Goldblatt J; Dixit A; Sarkar A; Randell T; Suri M; Raggio C; Davis J; Carter E; Aspberg A
    Sci Rep; 2022 Mar; 12(1):5215. PubMed ID: 35338222
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel pathogenic ACAN variants in non-syndromic short stature patients.
    Hu X; Gui B; Su J; Li H; Li N; Yu T; Zhang Q; Xu Y; Li G; Chen Y; Qing Y; ; Li C; Luo J; Fan X; Ding Y; Li J; Wang J; Wang X; Chen S; Shen Y
    Clin Chim Acta; 2017 Jun; 469():126-129. PubMed ID: 28396070
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ACAN biallelic variants in a girl with severe idiopathic short stature.
    Masunaga Y; Ohkubo Y; Nishimura G; Ueno T; Fujisawa Y; Fukami M; Saitsu H; Ogata T
    J Hum Genet; 2022 Aug; 67(8):481-486. PubMed ID: 35314765
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
    Gkourogianni A; Andrew M; Tyzinski L; Crocker M; Douglas J; Dunbar N; Fairchild J; Funari MF; Heath KE; Jorge AA; Kurtzman T; LaFranchi S; Lalani S; Lebl J; Lin Y; Los E; Newbern D; Nowak C; Olson M; Popovic J; Pruhová Š; Elblova L; Quintos JB; Segerlund E; Sentchordi L; Shinawi M; Stattin EL; Swartz J; Angel AG; Cuéllar SD; Hosono H; Sanchez-Lara PA; Hwa V; Baron J; Nilsson O; Dauber A
    J Clin Endocrinol Metab; 2017 Feb; 102(2):460-469. PubMed ID: 27870580
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in
    Tamayo A; Núñez-Moreno G; Ruiz C; Plaisancie J; Damian A; Moya J; Chassaing N; Calvas P; Ayuso C; Minguez P; Corton M
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675087
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. All reported non-canonical splice site variants in GLA cause aberrant splicing.
    Okada E; Horinouchi T; Yamamura T; Aoto Y; Suzuki R; Ichikawa Y; Tanaka Y; Masuda C; Kitakado H; Kondo A; Sakakibara N; Ishiko S; Nagano C; Ishimori S; Usui J; Yamagata K; Matsuo M; Nozu K
    Clin Exp Nephrol; 2023 Sep; 27(9):737-746. PubMed ID: 37254000
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
    Lv Y; Gu J; Qiu H; Li H; Zhang Z; Yin S; Mao Y; Kong L; Liang B; Jiang H; Liu C
    Mol Genet Genomic Med; 2019 Nov; 7(11):e967. PubMed ID: 31478598
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
    Albader N; Zou M; BinEssa HA; Abdi S; Al-Enezi AF; Meyer BF; Alzahrani AS; Shi Y
    J Clin Endocrinol Metab; 2022 Feb; 107(3):e1263-e1276. PubMed ID: 34632506
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
    Yang L; Zhang C; Wang W; Wang J; Xiao Y; Lu W; Ma X; Chen L; Ni J; Wang D; Shi J; Dong Z
    BMC Med Genet; 2018 Dec; 19(1):212. PubMed ID: 30541462
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.
    Tang W; Wu KM; Zhou Q; Tang YF; Fu JF; Dong GP; Zou CC
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2439. PubMed ID: 38613222
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Intronic Splicing Mutation in the
    Guo X; Chen S; Lin M; Pan Y; Liu N; Shi T
    Genet Test Mol Biomarkers; 2021 Jul; 25(7):478-485. PubMed ID: 34280007
    [No Abstract]   [Full Text] [Related]  

  • 19. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
    PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel
    Deng S; Hou L; Xia D; Li X; Peng X; Xiao X; Zhang J; Meng Z; Zhang L; Ouyang N; Liang L
    Front Endocrinol (Lausanne); 2022; 13():1015954. PubMed ID: 36387899
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.