BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 36275064)

  • 1. Case report: A novel truncating variant of
    Zhao X; Wu B; Chen H; Zhang P; Qian Y; Peng X; Dong X; Wang Y; Li G; Dong C; Wang H
    Front Pediatr; 2022; 10():982361. PubMed ID: 36275064
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
    Gaillard L; Goverde A; van den Bosch QCC; Jehee FS; Brosens E; Veenma D; Magielsen F; de Klein A; Mathijssen IMJ; van Dooren MF
    Front Pediatr; 2021; 9():772800. PubMed ID: 34900871
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
    Goos JAC; Vogel WK; Mlcochova H; Millard CJ; Esfandiari E; Selman WH; Calpena E; Koelling N; Carpenter EL; Swagemakers SMA; van der Spek PJ; Filtz TM; Schwabe JWR; Iwaniec UT; Mathijssen IMJ; Leid M; Twigg SRF
    Hum Mol Genet; 2019 Aug; 28(15):2501-2513. PubMed ID: 31067316
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of two novel variants of the
    Che F; Tie X; Lei H; Zhang X; Duan M; Zhang L; Yang Y
    Front Mol Neurosci; 2022; 15():927357. PubMed ID: 36176959
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
    Pande S; Mascarenhas S; Venkatraman A; Bhat V; Narayanan DL; Siddiqui S; Bielas S; Girisha KM; Shukla A
    Am J Med Genet A; 2023 Aug; 191(8):2175-2180. PubMed ID: 37337996
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
    Yu Y; Jia X; Yin H; Jiang H; Du Y; Yang F; Yang Z; Li H
    Mol Genet Genomic Med; 2023 Apr; 11(4):e2132. PubMed ID: 36683525
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutant
    Yang S; Kang Q; Hou Y; Wang L; Li L; Liu S; Liao H; Cao Z; Yang L; Xiao Z
    Front Pediatr; 2020; 8():544894. PubMed ID: 33194885
    [No Abstract]   [Full Text] [Related]  

  • 8. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
    Prasad M; Balci TB; Prasad C; Andrews JD; Lee R; Jurkiewicz MT; Napier MP; Colaiacovo S; Guillen Sacoto MJ; Karp N
    Eur J Med Genet; 2020 Sep; 63(9):104007. PubMed ID: 32659295
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
    Chen J; Xia Z; Zhou Y; Ma X; Wang X; Guo Q
    BMC Med Genomics; 2021 Mar; 14(1):68. PubMed ID: 33653342
    [TBL] [Abstract][Full Text] [Related]  

  • 10. BCL11B regulates sutural patency in the mouse craniofacial skeleton.
    Kyrylkova K; Iwaniec UT; Philbrick KA; Leid M
    Dev Biol; 2016 Jul; 415(2):251-260. PubMed ID: 26453795
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
    Dinwiddie DL; Soden SE; Saunders CJ; Miller NA; Farrow EG; Smith LD; Kingsmore SF
    BMC Med Genomics; 2013 Sep; 6():32. PubMed ID: 24044690
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
    Eto K; Machida O; Yanagishita T; Shimojima Yamamoto K; Chiba K; Aihara Y; Hasegawa Y; Nagata M; Ishihara Y; Miyashita Y; Asano Y; Nagata S; Yamamoto T
    Hum Genome Var; 2022 Dec; 9(1):43. PubMed ID: 36470856
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities - a Case Report.
    Roa-Bautista A; López-Duarte M; Paz-Gandiaga N; San Segundo Arribas D; Ocejo-Vinyals JG
    EJIFCC; 2022 Dec; 33(4):325-333. PubMed ID: 36605301
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
    Tagariello A; Heller R; Greven A; Kalscheuer VM; Molter T; Rauch A; Kress W; Winterpacht A
    J Med Genet; 2006 Jun; 43(6):534-40. PubMed ID: 16258006
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A case report of BCL11B mutation induced neurodevelopmental disorder and literature review].
    Yan S; Wei YS; Yang QY; Yang L; Zeng T; Tang XM; Zhao XD; An YF
    Zhonghua Er Ke Za Zhi; 2020 Mar; 58(3):223-227. PubMed ID: 32135595
    [No Abstract]   [Full Text] [Related]  

  • 16. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
    Addissie YA; Kotecha U; Hart RA; Martinez AF; Kruszka P; Muenke M
    Am J Med Genet A; 2015 Nov; 167A(11):2657-63. PubMed ID: 26249544
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
    Marji FP; Hall JA; Anstadt E; Madan-Khetarpal S; Goldstein JA; Losee JE
    J Pediatr Genet; 2021 Mar; 10(1):81-84. PubMed ID: 33552646
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.
    Bai S; Geng Y; Duan H; Xu L; Yu Z; Yuan J; Wei M
    Orthod Craniofac Res; 2021 Nov; 24(4):480-485. PubMed ID: 33527670
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Novel Frameshift
    Ahn JH; Oh SH; Park JK; Kim KH; Lee JE; Chung WY; Lee KS; Seo GH; Lee BL
    Ann Clin Lab Sci; 2022 May; 52(3):488-493. PubMed ID: 35777792
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.