BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 24192682)

  • 1. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.
    Nalbantoğlu B; Donma MM; Nişli K; Paketçi C; Karasu E; Ozdilek B; Mintaş NE
    Turk J Pediatr; 2013; 55(2):203-6. PubMed ID: 24192682
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
    Afifi HH; Zaki MS; El-Gerzawy AM; Kayed HF
    Genet Couns; 2008; 19(1):47-58. PubMed ID: 18564501
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
    So J; Stockley T; Stavropoulos DJ
    Am J Med Genet A; 2014 Feb; 164A(2):511-5. PubMed ID: 24311471
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.
    Sinawat S; Kitkhuandee A; Auvichayapat N; Auvichayapat P; Yospaiboon Y; Sinawat S
    J Med Assoc Thai; 2013 Jul; 96(7):870-3. PubMed ID: 24319861
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Jacobsen syndrome.
    Mattina T; Perrotta CS; Grossfeld P
    Orphanet J Rare Dis; 2009 Mar; 4():9. PubMed ID: 19267933
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.
    Matheisel A; Babinska M; Wierzba J; Wozniak A; Nedoszytko B; Balcerska A; Limon J
    Genet Couns; 2000; 11(3):267-71. PubMed ID: 11043435
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
    Pivnick EK; Velagaleti GV; Wilroy RS; Smith ME; Rose SR; Tipton RE; Tharapel AT
    J Med Genet; 1996 Sep; 33(9):772-8. PubMed ID: 8880580
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.
    Şimşek-Kiper PÖ; Bayram Y; Ütine GE; Alanay Y; Boduroğlu K
    Turk J Pediatr; 2014; 56(1):80-4. PubMed ID: 24827952
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature review.
    Mahjoubi F; Razazian F; Torabi R
    Genet Couns; 2014; 25(3):277-87. PubMed ID: 25365850
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
    Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
    Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
    [TBL] [Abstract][Full Text] [Related]  

  • 11. White matter abnormality in Jacobsen syndrome assessed by serial MRI.
    Fujino S; Yoshihashi H; Takeda R; Ihara S; Miyama S
    Brain Dev; 2020 Sep; 42(8):621-625. PubMed ID: 32507665
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
    Chen CP; Lin SP; Hsu CH; Chern SR; Su JW; Chen YJ; Pan CW; Wang W
    Genet Couns; 2012; 23(2):223-9. PubMed ID: 22876581
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 11q- syndrome: three cases and a review of the literature.
    Leegte B; Kerstjens-Frederikse WS; Deelstra K; Begeer JH; van Essen AJ
    Genet Couns; 1999; 10(3):305-13. PubMed ID: 10546104
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.
    Blazina Š; Ihan A; Lovrečić L; Hovnik T
    Am J Med Genet A; 2016 Dec; 170(12):3237-3240. PubMed ID: 27605496
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
    Dalm VA; Driessen GJ; Barendregt BH; van Hagen PM; van der Burg M
    J Clin Immunol; 2015 Nov; 35(8):761-8. PubMed ID: 26566921
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
    Takahashi I; Takahashi T; Sawada K; Shimojima K; Yamamoto T
    Am J Med Genet A; 2012 Jan; 158A(1):220-3. PubMed ID: 22139980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
    Obregon MG; Mingarelli R; Digilio MC; Zelante L; Giannotti A; Sabatino G; Dallapiccola B
    Ann Genet; 1992; 35(4):208-12. PubMed ID: 1296516
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo interstitial deletion in the long arm of chromosome 11: a case report.
    Li LL; Zhang HG; Shao XG; Gao JC; Zhang HY; Liu RZ
    Genet Mol Res; 2016 Jul; 15(2):. PubMed ID: 27421024
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
    Bernaciak J; Szczałuba K; Derwińska K; Wiśniowiecka-Kowalnik B; Bocian E; Sasiadek MM; Makowska I; Stankiewicz P; Smigiel R
    Am J Med Genet A; 2008 Oct; 146A(19):2449-54. PubMed ID: 18792974
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.
    Jamsheer A; Smyk M; Wierzba J; Kołowska J; Woźniak A; Skołozdrzy J; Fischer M; Latos-Bieleńska A
    J Appl Genet; 2008; 49(4):397-405. PubMed ID: 19029687
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.