BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 32223580)

  • 1. A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
    Hosono K; Kawase K; Kurata K; Niimi Y; Saitsu H; Minoshima S; Ohnishi H; Yamamoto T; Hikoya A; Tachibana N; Fukao T; Yamamoto T; Hotta Y
    Ophthalmic Genet; 2020 Apr; 41(2):175-182. PubMed ID: 32223580
    [No Abstract]   [Full Text] [Related]  

  • 2. Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.
    Schmidt B; Udink ten Cate F; Weiss M; Koehler U
    Eur J Pediatr; 2012 Jul; 171(7):1047-53. PubMed ID: 22302461
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.
    Rudnik-Schöneborn S; Schubert R; Majewski F; Haverkamp F; Schwanitz G
    Clin Genet; 1997 Aug; 52(2):126-9. PubMed ID: 9298749
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features.
    Velagaleti GV; Jalal SM; Michaelis RC; Rowe TF; Nichols JR; Lockhart LH
    Clin Dysmorphol; 2003 Jan; 12(1):29-33. PubMed ID: 12514362
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
    Chen CP; Chern SR; Wang W; Lee CC; Chen WL; Chen LF; Chang TY; Tzen CY
    Prenat Diagn; 2001 May; 21(5):346-50. PubMed ID: 11360273
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis.
    Rigola MA; Plaja A; Mediano C; Miró R; Egozcue J; Fuster C
    Am J Med Genet; 2001 Nov; 104(1):37-41. PubMed ID: 11746025
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.
    Cohn AC; Kearns LS; Savarirayan R; Ryan J; Craig JE; Mackey DA
    Ophthalmic Genet; 2005 Mar; 26(1):45-53. PubMed ID: 15823925
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p.
    James PA; Aftimos S; Oei P
    Am J Med Genet A; 2003 Jun; 119A(3):288-92. PubMed ID: 12784294
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.
    Semerci CN; Cinbis M; Ullmann R; Steininger A; Bahce M; Yagci B; Ozden S; Sabir N; Gumus D; Tepeli E; Arteaga J; Mutchinick OM
    Am J Med Genet A; 2010 Jul; 152A(7):1724-9. PubMed ID: 20578131
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
    Wu D; Zhang H; Hou Q; Wang H; Wang T; Liao S
    Mol Med Rep; 2017 Nov; 16(5):6222-6227. PubMed ID: 28901405
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S; Aypar E; Beksaç MS; Bartsch O
    Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.
    Atik T; Durmaz B; Yorganci OU; Cogulu O; Kioutsouk M; Ozkinay F
    Genet Couns; 2013; 24(2):179-84. PubMed ID: 24032288
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
    Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
    Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
    Nishimura DY; Swiderski RE; Alward WL; Searby CC; Patil SR; Bennet SR; Kanis AB; Gastier JM; Stone EM; Sheffield VC
    Nat Genet; 1998 Jun; 19(2):140-7. PubMed ID: 9620769
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.
    Preiksaitiene E; Benušienė E; Ciuladaite Z; Šliužas V; Mikštienė V; Kučinskas V
    Taiwan J Obstet Gynecol; 2016 Jun; 55(3):410-4. PubMed ID: 27343325
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.
    Sohn YB; Yun JN; Park SJ; Park MS; Kim SH; Lee JH
    Ann Clin Lab Sci; 2013; 43(3):332-6. PubMed ID: 23884231
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.
    Sarri C; Gyftodimou J; Avramopoulos D; Grigoriadou M; Pedersen W; Pandelia E; Pangalos C; Abazis D; Kitsos G; Vassilopoulos D; Brøndum-Nielsen K; Petersen MB
    Am J Med Genet; 1997 May; 70(1):87-94. PubMed ID: 9129747
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
    Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
    Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].
    Grasshoff U; Singer S; Liehr T; Starke H; Fode B; Schöning M; Dufke A
    Cytogenet Genome Res; 2003; 103(1-2):17-23. PubMed ID: 15004458
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.