BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

356 related articles for article (PubMed ID: 22303804)

  • 1. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
    Chen CP; Lin SP; Chern SR; Tsai FJ; Lee MS; Chen YJ; Wang W
    Genet Couns; 2011; 22(4):425-30. PubMed ID: 22303804
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
    Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
    Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
    Del Refugio Rivera-Vega M; Gómez-Del Angel LA; Valdes-Miranda JM; Pérez-Cabrera A; Gonzalez-Huerta LM; Toral-López J; Cuevas-Covarrubias S
    Cytogenet Genome Res; 2015; 145(1):1-5. PubMed ID: 25870946
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
    Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V
    Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation.
    Chen CP; Kao LY; Su YN; Chen M; Chang SD; Wang W
    Genet Couns; 2011; 22(4):431-4. PubMed ID: 22303805
    [No Abstract]   [Full Text] [Related]  

  • 6. Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
    Chodirker BN; Ray M; McAlpine PJ; Riordan D; Vust A; Pugh D; Chudley AE
    Am J Med Genet; 1988 Sep; 31(1):145-51. PubMed ID: 2464927
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
    Chen CP; Lin SP; Huang YL; Chern SR; Su JW; Lee CC; Chen WL; Wang W
    Genet Couns; 2012; 23(4):497-503. PubMed ID: 23431751
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications.
    Rivera H
    Genet Couns; 2013; 24(3):291-7. PubMed ID: 24341144
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosome 7q22-q31 duplication: report of a new case and review.
    Mégarbané A; Gosset P; Souraty N; Lapierre JM; Turleau C; Vekemans M; Loiselet J; Prieur M
    Am J Med Genet; 2000 Nov; 95(2):164-8. PubMed ID: 11078569
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
    Soysal Y; Vermeesch J; Davani NA; Şensoy N; Hekimler K; İmirzalıoğlu N
    Genet Mol Res; 2011 Sep; 10(3):2148-54. PubMed ID: 21968682
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
    Lipska BS; Brzeskwiniewicz M; Wierzba J; Morzuchi L; Piotrowski A; Limon J
    Genet Couns; 2011; 22(4):353-63. PubMed ID: 22303795
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
    Ruiz-Botero F; Pachajoa H
    J Med Case Rep; 2016 Jul; 10():204. PubMed ID: 27459995
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
    Frühmesser A; Erdel M; Duba HC; Fauth C; Amberger A; Utermann G; Zschocke J; Kotzot D
    Eur J Med Genet; 2013 Jul; 56(7):383-8. PubMed ID: 23608969
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
    Zheng Z; Yao RE; Geng J; Jin X; Shen Y; Ying D; Fu Q; Yu Y
    Gene; 2013 Mar; 516(2):301-6. PubMed ID: 23296059
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Duplication 20p identified via fluorescent in situ hybridization.
    LeChien KA; McPherson E; Estop AM
    Am J Med Genet; 1994 Apr; 50(2):187-9. PubMed ID: 7516625
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
    Li Z; Liu J; Li H; Peng Y; Lv W; Long Z; Liang D; Wu L
    Gene; 2013 Dec; 531(2):502-5. PubMed ID: 24035902
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new case of pure partial 7q duplication.
    Alfonsi M; Palka C; Morizio E; Gatta V; Franchi S; Guanciali Franchi P; Zori R; Calabrese G; Palka G; Chiarelli F
    Cytogenet Genome Res; 2012; 136(1):1-5. PubMed ID: 22086126
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.
    Argiropoulos B; Carter M; Brierley K; Hare H; Bouchard A; Al-Hertani W; Ryan SR; Reid J; Basik M; McGowan-Jordan J; Graham GE
    Am J Med Genet A; 2011 Apr; 155A(4):885-91. PubMed ID: 21416596
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.
    Pavone P; Corsello G; Marino SD; Ruggieri M; Falsaperla R
    Epilepsy Res; 2019 Dec; 158():106223. PubMed ID: 31707317
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
    Caselli R; Ballarati L; Vignoli A; Peron A; Recalcati MP; Catusi I; Larizza L; Giardino D
    Eur J Med Genet; 2015 Nov; 58(11):578-83. PubMed ID: 26297194
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.