BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 36075864)

  • 1. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
    Campbell IM; Crowley TB; Jobaliya C; Bailey A; McGinn DE; Gaiser K; Bassett A; Gur RE; Morrow B; Emanuel BS; Franco AT; French D; Zackai EH; McDonald-McGinn DM; Lambert MP
    Clin Genet; 2023 Jan; 103(1):109-113. PubMed ID: 36075864
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
    Zwifelhofer NMJ; Bercovitz RS; Weik LA; Moroi A; LaRose S; Newman PJ; Newman DK
    J Thromb Haemost; 2019 Feb; 17(2):295-305. PubMed ID: 30549403
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
    Nagoshi R; Sakamoto A; Imai T; Uchiyama T; Kaname T; Kunishima S; Ishiguro A
    Int J Hematol; 2024 Apr; ():. PubMed ID: 38625506
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.
    Homans JF; de Reuver S; Heung T; Silversides CK; Oechslin EN; Houben ML; McDonald-McGinn DM; Kruyt MC; Castelein RM; Bassett AS
    Spine J; 2020 Jun; 20(6):956-963. PubMed ID: 31958577
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.
    Crowley TB; Campbell I; Arulselvan A; Friedman D; Zackai EH; Geoffrion TR; Witmer C; Gaynor JW; McDonald-McGinn DM; Lambert MP
    Platelets; 2024 Dec; 35(1):2290108. PubMed ID: 38099325
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype-phenotype correlation in 22q11.2 deletion syndrome.
    Michaelovsky E; Frisch A; Carmel M; Patya M; Zarchi O; Green T; Basel-Vanagaite L; Weizman A; Gothelf D
    BMC Med Genet; 2012 Dec; 13():122. PubMed ID: 23245648
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.
    Heung T; Conroy B; Malecki S; Ha J; Boot E; Corral M; Bassett AS
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36360275
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery.
    Brenner MK; Clarke S; Mahnke DK; Simpson P; Bercovitz RS; Tomita-Mitchell A; Mitchell ME; Newman DK
    Pediatr Res; 2016 Feb; 79(2):318-24. PubMed ID: 26492284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
    Souto Filho JTD; Ribeiro HAA; Fassbender IPB; Ribeiro JMMC; Ferreira Júnior WDS; Figueiredo LCS
    Blood Coagul Fibrinolysis; 2019 Dec; 30(8):423-425. PubMed ID: 31738289
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.
    Liu AP; Chow PC; Lee PP; Mok GT; Tang WF; Lau ET; Lam ST; Chan KY; Kan AS; Chau AK; Cheung YF; Lau YL; Chung BH
    Eur J Med Genet; 2014; 57(6):306-11. PubMed ID: 24721633
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
    Peter B; Scherer N; Liang WS; Pophal S; Nielsen C; Grebe TA
    Am J Med Genet A; 2021 May; 185(5):1532-1537. PubMed ID: 33569883
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
    Guo T; Diacou A; Nomaru H; McDonald-McGinn DM; Hestand M; Demaerel W; Zhang L; Zhao Y; Ujueta F; Shan J; Montagna C; Zheng D; Crowley TB; Kushan-Wells L; Bearden CE; Kates WR; Gothelf D; Schneider M; Eliez S; Breckpot J; Swillen A; Vorstman J; Zackai E; Benavides Gonzalez F; Repetto GM; Emanuel BS; Bassett AS; Vermeesch JR; Marshall CR; Morrow BE;
    Hum Mol Genet; 2018 Apr; 27(7):1150-1163. PubMed ID: 29361080
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
    Kunishima S; Imai T; Kobayashi R; Kato M; Ogawa S; Saito H
    Pediatr Int; 2013 Aug; 55(4):434-7. PubMed ID: 23566026
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
    Gavril EC; Popescu R; Nucă I; Ciobanu CG; Butnariu LI; Rusu C; Pânzaru MC
    Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36360320
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
    Gokturk B; Guner SN; Kara R; Kirac M; Keles S; Artac H; Zamani AG; Yildirim MS; Reisli I
    Asian Pac J Allergy Immunol; 2016 Jun; 34(2):166-73. PubMed ID: 27007839
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
    Rooney K; Levy MA; Haghshenas S; Kerkhof J; Rogaia D; Tedesco MG; Imperatore V; Mencarelli A; Squeo GM; Di Venere E; Di Cara G; Verrotti A; Merla G; Tedder ML; DuPont BR; Sadikovic B; Prontera P
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445317
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    Barry JC; Crowley TB; Jyonouchi S; Heimall J; Zackai EH; Sullivan KE; McDonald-McGinn DM
    J Clin Immunol; 2017 Jul; 37(5):476-485. PubMed ID: 28540525
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hypoparathyroidism concomitant with macrothrombocytopenia in an elderly woman with 22q11.2 deletion syndrome.
    Yang HC; Lin SH; Wu YY; Sung CC
    Platelets; 2018 Nov; 29(7):733-736. PubMed ID: 29851532
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
    Ron HA; Crowley TB; Liu Y; Unolt M; Schindewolf E; Moldenhauer J; Rychik J; Goldmuntz E; Emanuel BS; Ryba D; Gaynor JW; Zackai EH; Hakonarson H; McDonald-McGinn DM
    Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672801
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
    Butcher NJ; Kiehl TR; Hazrati LN; Chow EW; Rogaeva E; Lang AE; Bassett AS
    JAMA Neurol; 2013 Nov; 70(11):1359-66. PubMed ID: 24018986
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.