BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

310 related articles for article (PubMed ID: 23342975)

  • 1. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
    Jamsheer A; Sowińska A; Simon D; Jamsheer-Bratkowska M; Trzeciak T; Latos-Bieleńska A
    BMC Med Genet; 2013 Jan; 14():13. PubMed ID: 23342975
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.
    Vásquez-Velásquez AI; García-Castillo HA; González-Mercado MG; Dávalos IP; Raca G; Xu X; Dwyer E; Rivera H
    Cytogenet Genome Res; 2011; 132(4):233-8. PubMed ID: 21063078
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
    Chen CP; Lin SP; Chen MR; Su YN; Chern SR; Liu YP; Su JW; Lee MS; Wang W
    Genet Couns; 2012; 23(3):405-13. PubMed ID: 23072190
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
    Masri A; Gimelli S; Hamamy H; Sloan-Béna F
    Am J Med Genet A; 2014 May; 164A(5):1254-61. PubMed ID: 24478242
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
    Zahnleiter D; Trautmann U; Ekici AB; Goehring I; Reis A; Dörr HG; Rauch A; Thiel CT
    Eur J Med Genet; 2011; 54(5):e521-4. PubMed ID: 21777705
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?
    Sellars EA; Zimmerman SL; Smolarek T; Hopkin RJ
    Am J Med Genet A; 2011 Jun; 155A(6):1409-13. PubMed ID: 21567924
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.
    Basinko A; Giovannucci Uzielli ML; Scarselli G; Priolo M; Timpani G; De Braekeleer M
    Eur J Med Genet; 2012 Feb; 55(2):112-6. PubMed ID: 22193390
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
    Chen CP; Lin SP; Lin CC; Chen YJ; Chern SR; Li YC; Hsieh LJ; Lee CC; Pan CW; Wang W
    Am J Med Genet A; 2006 Jul; 140(14):1594-600. PubMed ID: 16770806
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.
    Abuelo DN; Ahsanuddin AN; Mark HF
    Am J Med Genet; 2000 Oct; 94(5):392-9. PubMed ID: 11050625
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
    Socha M; Szoszkiewicz A; Simon D; Jamsheer A
    J Appl Genet; 2023 Feb; 64(1):125-134. PubMed ID: 36586055
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
    Paththinige CS; Sirisena ND; Kariyawasam UGIU; Ediriweera RC; Kruszka P; Muenke M; Dissanayake VHW
    BMC Med Genomics; 2018 May; 11(1):44. PubMed ID: 29739404
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
    Angle B; Yen F; Hersh JH; Gowans G
    Am J Med Genet A; 2003 Feb; 116A(4):376-80. PubMed ID: 12522795
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.
    Arya P; Wilson TE; Parent JJ; Ware SM; Breman AM; Helm BM
    Eur J Med Genet; 2020 Apr; 63(4):103797. PubMed ID: 31654754
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.
    Meza-Espinoza JP; Sáinz González E; León-León CJN; Arámbula-Meraz E; Contreras-Gutiérrez JA; García-Magallanes N; Madueña-Molina J; Luque-Ortega F; Cervín-Serrano S; Picos-Cárdenas VJ
    Mol Cytogenet; 2020; 13():17. PubMed ID: 32467733
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
    Dikow N; Maas B; Gaspar H; Kreiss-Nachtsheim M; Engels H; Kuechler A; Garbes L; Netzer C; Neuhann TM; Koehler U; Casteels K; Devriendt K; Janssen JW; Jauch A; Hinderhofer K; Moog U
    Am J Med Genet A; 2013 Sep; 161A(9):2158-66. PubMed ID: 23913520
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
    Bernardini L; Castori M; Capalbo A; Mokini V; Mingarelli R; Simi P; Bertuccelli A; Novelli A; Dallapiccola B
    Am J Med Genet A; 2007 Dec; 143A(24):2937-43. PubMed ID: 18000908
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.
    Vera-Carbonell A; Bafalliu JA; Guillén-Navarro E; Escalona A; Ballesta-Martínez MJ; Fuster C; Fernández A; López-Expósito I
    Am J Med Genet A; 2009 Nov; 149A(11):2513-21. PubMed ID: 19842199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
    Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
    Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome].
    Feng Z; Hu H; Mao C; Wang D; Liu L; Liu S; Jing Z; Liu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):240-243. PubMed ID: 28397228
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H; Vermeesch J; Fryns JP
    Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.