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 *

101 related articles for article (PubMed ID: 22820457)

  • 1. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.
    Freitas ÉL; Gribble SM; Simioni M; Vieira TP; Prigmore E; Krepischi AC; Rosenberg C; Pearson PL; Melo DG; Gil-da-Silva-Lopes VL
    Eur J Med Genet; 2012 Nov; 55(11):660-5. PubMed ID: 22820457
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
    Wimplinger I; Rauch A; Orth U; Schwarzer U; Trautmann U; Kutsche K
    Eur J Med Genet; 2007; 50(6):421-31. PubMed ID: 17845869
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
    Goumy C; Gay-Bellile M; Eymard-Pierre E; Kemeny S; Gouas L; Déchelotte P; Gallot D; Véronèse L; Tchirkov A; Pebrel-Richard C; Vago P
    Birth Defects Res A Clin Mol Teratol; 2014 Jun; 100(6):507-11. PubMed ID: 24753315
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
    Willemsen MH; Beunders G; Callaghan M; de Leeuw N; Nillesen WM; Yntema HG; van Hagen JM; Nieuwint AW; Morrison N; Keijzers-Vloet ST; Hoischen A; Brunner HG; Tolmie J; Kleefstra T
    Clin Genet; 2011 Jul; 80(1):31-8. PubMed ID: 21204793
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
    Zori RT; Lupski JR; Heju Z; Greenberg F; Killian JM; Gray BA; Driscoll DJ; Patel PI; Zackowski JL
    Am J Med Genet; 1993 Sep; 47(4):504-11. PubMed ID: 8256814
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deletion of 22q11 in two brothers with different phenotype.
    Kasprzak L; Der Kaloustian VM; Elliott AM; Shevell M; Lejtenyi C; Eydoux P
    Am J Med Genet; 1998 Jan; 75(3):288-91. PubMed ID: 9475599
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
    Murru D; Boccone L; Ristaldi MS; Nucaro AL
    Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel
    Guan J; Yin L; Wang H; Chen G; Zhao C; Wang D; Wang QJ
    Acta Otolaryngol; 2019 Oct; 139(10):870-875. PubMed ID: 31403828
    [No Abstract]   [Full Text] [Related]  

  • 10. A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.
    Eussen BH; van de Laar I; Douben H; van Kempen L; Hochstenbach R; De Man SA; Van Opstal D; de Klein A; Poddighe PJ
    Eur J Med Genet; 2007; 50(2):112-9. PubMed ID: 17161033
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism.
    Masada CT; Olney AH; Fordyce R; Sanger WG
    Am J Med Genet; 1989 Dec; 34(4):528-34. PubMed ID: 2624263
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
    Fryns JP; Smeets E; Devriendt K; Petit P
    Ann Genet; 1998; 41(2):73-6. PubMed ID: 9706336
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
    J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
    Bertini V; Valetto A; Uccelli A; Tarantino E; Simi P
    Fertil Steril; 2008 Nov; 90(5):2004.e1-5. PubMed ID: 18371955
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.
    Doco-Fenzy M; Landais E; Andrieux J; Schneider A; Delemer B; Sulmont V; Melin JP; Ploton D; Thevenard J; Monboisse JC; Belouadah M; Lefebvre F; Durlach A; Goossens M; Albuisson J; Motte J; Gaillard D
    Eur J Med Genet; 2008; 51(6):598-607. PubMed ID: 18822396
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
    Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
    Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
    Palka C; Alfonsi M; Mohn A; Cerbo R; Guanciali Franchi P; Fantasia D; Morizio E; Stuppia L; Calabrese G; Zori R; Chiarelli F; Palka G
    Pediatrics; 2012 Jan; 129(1):e183-8. PubMed ID: 22144704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interstitial deletion of chromosome 2 region in a malformed infant.
    Melnyk AR; Muraskas J
    Am J Med Genet; 1993 Jan; 45(1):49-51. PubMed ID: 8418659
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
    Le Caignec C; Boceno M; Saugier-Veber P; Jacquemont S; Joubert M; David A; Frebourg T; Rival JM
    J Med Genet; 2005 Feb; 42(2):121-8. PubMed ID: 15689449
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.