BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 36184094)

  • 1. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
    Wang Q; Yang Y; Liu L; Tie X; Lei H; Zhang L; Che F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1111-1115. PubMed ID: 36184094
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
    Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
    Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
    Kellaris G; Khan K; Baig SM; Tsai IC; Zamora FM; Ruggieri P; Natowicz MR; Katsanis N
    Hum Genomics; 2018 Mar; 12(1):11. PubMed ID: 29490693
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
    Dikow N; Granzow M; Graul-Neumann LM; Karch S; Hinderhofer K; Paramasivam N; Behl LJ; Kaufmann L; Fischer C; Evers C; Schlesner M; Eils R; Borck G; Zweier C; Bartram CR; Carey JC; Moog U
    Am J Med Genet A; 2017 May; 173(5):1369-1373. PubMed ID: 28371085
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J; Yang X; Li J; Wang H; Zhang W; Fang F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):421-424. PubMed ID: 35446980
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
    Moresco G; Costanza J; Santaniello C; Rondinone O; Grilli F; Prada E; Orcesi S; Coro I; Pichiecchio A; Marchisio P; Miozzo M; Fontana L; Milani D
    Ital J Pediatr; 2021 Mar; 47(1):81. PubMed ID: 33789733
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene].
    Ren Z; Lei X; Zeng M; Yang K; Guo Q; Yu S; Lou G; Zhang B; Wang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Dec; 39(12):1385-1389. PubMed ID: 36453964
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A child with a novel DDX3X variant mimicking cerebral palsy: a case report.
    Hu L; Xin X; Lin S; Luo M; Chen J; Qiu H; Ma L; Huang J
    Ital J Pediatr; 2020 Jun; 46(1):88. PubMed ID: 32600431
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
    Li Y; Qin L; Yang K; Chen X; Zhu H; Mi L; Wang Y; Ma X; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):533-539. PubMed ID: 38684296
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
    Scala M; Torella A; Severino M; Morana G; Castello R; Accogli A; Verrico A; Vari MS; Cappuccio G; Pinelli M; Vitiello G; Terrone G; D'Amico A; ; Nigro V; Capra V
    Eur J Hum Genet; 2019 Aug; 27(8):1254-1259. PubMed ID: 30936465
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
    Snijders Blok L; Madsen E; Juusola J; Gilissen C; Baralle D; Reijnders MR; Venselaar H; Helsmoortel C; Cho MT; Hoischen A; Vissers LE; Koemans TS; Wissink-Lindhout W; Eichler EE; Romano C; Van Esch H; Stumpel C; Vreeburg M; Smeets E; Oberndorff K; van Bon BW; Shaw M; Gecz J; Haan E; Bienek M; Jensen C; Loeys BL; Van Dijck A; Innes AM; Racher H; Vermeer S; Di Donato N; Rump A; Tatton-Brown K; Parker MJ; Henderson A; Lynch SA; Fryer A; Ross A; Vasudevan P; Kini U; Newbury-Ecob R; Chandler K; Male A; ; Dijkstra S; Schieving J; Giltay J; van Gassen KL; Schuurs-Hoeijmakers J; Tan PL; Pediaditakis I; Haas SA; Retterer K; Reed P; Monaghan KG; Haverfield E; Natowicz M; Myers A; Kruer MC; Stein Q; Strauss KA; Brigatti KW; Keating K; Burton BK; Kim KH; Charrow J; Norman J; Foster-Barber A; Kline AD; Kimball A; Zackai E; Harr M; Fox J; McLaughlin J; Lindstrom K; Haude KM; van Roozendaal K; Brunner H; Chung WK; Kooy RF; Pfundt R; Kalscheuer V; Mehta SG; Katsanis N; Kleefstra T
    Am J Hum Genet; 2015 Aug; 97(2):343-52. PubMed ID: 26235985
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
    Xu X; Lu F; Zhang L; Li H; Du S; Tang J
    BMC Pediatr; 2021 Sep; 21(1):384. PubMed ID: 34479510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Shen Y; Luo G; Lu C; Tan Y; Cheng T; Qian X; Li N; Luo M; Cao Z; Ma X; Zhao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):57-61. PubMed ID: 36585002
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
    Li W; Fu T; Tamang S; Wang Y; Wang H; Zhuo Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):730-733. PubMed ID: 38818559
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42].
    Ren Y; Lyu Y; Ma J; Wang D; Zhang G; Liu Y; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):565-568. PubMed ID: 34096027
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.
    Shakarami F; Jahani M; Nouri Z; Tabatabaiefar MA
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2034. PubMed ID: 35962714
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].
    Yi Z; Zhang Y; Yang C; Song Z; Xue J; Pan H; Zhu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):260-263. PubMed ID: 33751537
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J; Quindipan C; Parham D; Shen L; Ruble D; Bootwalla M; Maglinte DT; Gai X; Saitta SC; Biegel JA; Mascarenhas L
    Am J Med Genet A; 2017 May; 173(5):1390-1395. PubMed ID: 28371217
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
    Wang Q; Yang J; Liu Y; Li X; Luo F; Xie J
    BMC Med Genet; 2018 Nov; 19(1):193. PubMed ID: 30400883
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].
    Dong R; Yang Y; Guo H; Gao M; Lyu Y; Li Y; Yang X; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1508-1511. PubMed ID: 37994132
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.