These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 20823914)

  • 1. Genomic analysis of partial 21q monosomies with variable phenotypes.
    Roberson ED; Wohler ES; Hoover-Fong JE; Lisi E; Stevens EL; Thomas GH; Leonard J; Hamosh A; Pevsner J
    Eur J Hum Genet; 2011 Feb; 19(2):235-8. PubMed ID: 20823914
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A; Orsini A; Bertini V; Toschi B; Bonuccelli A; Simi F; Sammartino I; Taddeucci G; Simi P; Saggese G
    Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.
    Ehling D; Kennerknecht I; Junge A; Prager B; Exeler R; Behre B; Horst J; Schmitt-John T; Bartsch O; Wirth J
    Am J Med Genet A; 2004 Dec; 131(3):265-72. PubMed ID: 15534873
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].
    Obersztyn E; Klapecki J; Helias-Rodzewicz Z; Bocian E; Mazurczak T
    Med Wieku Rozwoj; 2006; 10(1 Pt 2):199-209. PubMed ID: 17028389
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
    Plomp AS; Engelen JJ; Albrechts JC; de Die-Smulders CE; Hamers AJ
    J Med Genet; 1998 Jul; 35(7):604-8. PubMed ID: 9678708
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.
    Hannachi H; Mougou-Zerelli S; BenAbdallah I; Mama N; Hamdi I; Labalme A; Elghezal H; Sanlaville D; Saad A
    Cytogenet Genome Res; 2011; 135(2):102-10. PubMed ID: 21876345
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
    Malinverni ACM; Yamashiro Coelho ÉM; Chen K; Colovati ME; Soares Pinho Cernach MC; Bragagnolo S; Melaragno MI
    Cytogenet Genome Res; 2017; 153(2):81-85. PubMed ID: 29258104
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
    Fukai R; Hiraki Y; Nishimura G; Nakashima M; Tsurusaki Y; Saitsu H; Matsumoto N; Miyake N
    Am J Med Genet A; 2014 Apr; 164A(4):1021-8. PubMed ID: 24458657
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detailed molecular and clinical characterization of three patients with 21q deletions.
    Lindstrand A; Malmgren H; Sahlén S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
    Clin Genet; 2010 Feb; 77(2):145-54. PubMed ID: 19863549
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.
    Su M; Benke PJ; Bademci G; Cengiz FB; Ouyang X; Peng J; Casas CE; Tekin M; Fan YS
    Mol Cytogenet; 2018; 11():43. PubMed ID: 30123325
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
    Melis D; Genesio R; Cappuccio G; MariaGinocchio V; Casa RD; Menna G; Buffardi S; Poggi V; Leszle A; Imperati F; Carella M; Izzo A; Del Giudice E; Nitsch L; Andria G
    Am J Med Genet A; 2011 Jul; 155A(7):1697-705. PubMed ID: 21671372
    [TBL] [Abstract][Full Text] [Related]  

  • 14. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.
    Pangalos C; Théophile D; Sinet PM; Marks A; Stamboulieh-Abazis D; Chettouh Z; Prieur M; Verellen C; Rethoré MO; Lejeune J
    Am J Hum Genet; 1992 Dec; 51(6):1240-50. PubMed ID: 1463008
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.
    Putra M; Surti U; Hu J; Steele D; Clemens M; Saller DN; Yatsenko SA; Rajkovic A
    Am J Med Genet A; 2017 Dec; 173(12):3153-3157. PubMed ID: 29048729
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
    Chen CP; Chern SR; Lin CC; Wang TH; Li YC; Hsieh LJ; Lee CC; Hua HM; Wang W
    Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.
    Kulharya AS; Flannery DB; Norris K; Lovell C; Levy B; Velagaleti GV
    Am J Med Genet A; 2008 Sep; 146A(17):2234-41. PubMed ID: 18666229
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability].
    Peng Y; Jia Z; Pang J; Hu J; Xi H; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):704-707. PubMed ID: 31302916
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.