BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 32135595)

  • 1. [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]  

  • 2. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
    Lessel D; Gehbauer C; Bramswig NC; Schluth-Bolard C; Venkataramanappa S; van Gassen KLI; Hempel M; Haack TB; Baresic A; Genetti CA; Funari MFA; Lessel I; Kuhlmann L; Simon R; Liu P; Denecke J; Kuechler A; de Kruijff I; Shoukier M; Lek M; Mullen T; Lüdecke HJ; Lerario AM; Kobbe R; Krieger T; Demeer B; Lebrun M; Keren B; Nava C; Buratti J; Afenjar A; Shinawi M; Guillen Sacoto MJ; Gauthier J; Hamdan FF; Laberge AM; Campeau PM; Louie RJ; Cathey SS; Prinz I; Jorge AAL; Terhal PA; Lenhard B; Wieczorek D; Strom TM; Agrawal PB; Britsch S; Tolosa E; Kubisch C
    Brain; 2018 Aug; 141(8):2299-2311. PubMed ID: 29985992
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].
    Hu SC; Wang YB; Sun Q; Liu XR; Sun LL; Cui GM
    Zhonghua Er Ke Za Zhi; 2019 Jan; 57(1):55-59. PubMed ID: 30630233
    [No Abstract]   [Full Text] [Related]  

  • 4. A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
    Qiao F; Wang C; Luo C; Wang Y; Shao B; Tan J; Hu P; Xu Z
    Mol Genet Genomic Med; 2019 Sep; 7(9):e897. PubMed ID: 31347296
    [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. [De novo NFκB2 gene mutation associated common variable immunodeficiency].
    Luo MZ; Xu T; Xue XH; Wang YP; Wu PL; Chen XM; Tang XM; Zhao XD; Zhang ZY
    Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):628-632. PubMed ID: 30078247
    [No 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. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
    Punwani D; Zhang Y; Yu J; Cowan MJ; Rana S; Kwan A; Adhikari AN; Lizama CO; Mendelsohn BA; Fahl SP; Chellappan A; Srinivasan R; Brenner SE; Wiest DL; Puck JM
    N Engl J Med; 2016 Dec; 375(22):2165-2176. PubMed ID: 27959755
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].
    Liang Y; Ye J; Wei H; Ye F; Luo XP
    Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):592-596. PubMed ID: 30078240
    [No Abstract]   [Full Text] [Related]  

  • 11. [Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].
    Ding Y; Zhang Y; Wang YP; Zhao HY; Chen XM; Xue XH; Bai XM; An YF; Zhang ZY; Tang XM; Zhao XD
    Zhonghua Er Ke Za Zhi; 2017 Jan; 55(1):30-36. PubMed ID: 28072956
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 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. 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]  

  • 15. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
    Sabbagh Q; Haghshenas S; Piard J; Trouvé C; Amiel J; Attié-Bitach T; Balci T; Barat-Houari M; Belonis A; Boute O; Brightman DS; Bruel AL; Caraffi SG; Chatron N; Collet C; Dufour W; Edery P; Fong CT; Fusco C; Gatinois V; Gouy E; Guerrot AM; Heide S; Joshi A; Karp N; Keren B; Lesieur-Sebellin M; Levy J; Levy MA; Lozano C; Lyonnet S; Margot H; Marzin P; McConkey H; Michaud V; Nicolas G; Nizard M; Paulet A; Peluso F; Pernin V; Perrin L; Philippe C; Prasad C; Prasad M; Relator R; Rio M; Rondeau S; Ruault V; Ruiz-Pallares N; Sanchez E; Shears D; Siu VM; Sorlin A; Tedder M; Tharreau M; Mau-Them FT; van der Laan L; Van Gils J; Verloes A; Whalen S; Willems M; Yauy K; Zuntini R; Kerkhof J; Sadikovic B; Geneviève D
    Genet Med; 2024 Jan; 26(1):101007. PubMed ID: 37860968
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genes regulated by BCL11B during T-cell development are enriched for de novo mutations found in schizophrenia patients.
    Fahey L; Donohoe G; Broin PÓ; Morris DW
    Am J Med Genet B Neuropsychiatr Genet; 2020 Sep; 183(6):370-379. PubMed ID: 32729240
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2].
    Yang QY; Jia YJ; Wang YP; Zeng T; Zhao XD; Zhou LN
    Zhonghua Er Ke Za Zhi; 2020 May; 58(5):413-417. PubMed ID: 32392959
    [No Abstract]   [Full Text] [Related]  

  • 18. Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.
    Alfei E; Cattaneo E; Spaccini L; Iascone M; Veggiotti P; Doneda C
    Neuropediatrics; 2022 Aug; 53(4):283-286. PubMed ID: 34844266
    [TBL] [Abstract][Full Text] [Related]  

  • 19. T-cell lymphoma patient harboring BCL11B mutations had favorable overall survival.
    Chen C; Huang L; Liu S; Jiang X; Chen F; Wei X; Guo H; Zeng X; Zeng C; Przybylski GK; Li W; Li Y
    Asia Pac J Clin Oncol; 2024 Feb; 20(1):81-86. PubMed ID: 37635422
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Novel Germline Heterozygous
    Lu HY; Sertori R; Contreras AV; Hamer M; Messing M; Del Bel KL; Lopez-Rangel E; Chan ES; Rehmus W; Milner JD; McNagny KM; Lehman A; Wiest DL; Turvey SE
    Front Immunol; 2021; 12():788278. PubMed ID: 34887873
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.