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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

280 related items for PubMed ID: 12476454

  • 1. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
    Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H.
    Am J Med Genet A; 2003 Jan 01; 116A(1):66-70. PubMed ID: 12476454
    [Abstract] [Full Text] [Related]

  • 2. Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
    Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM.
    J Hum Genet; 2003 Jan 01; 48(6):283-287. PubMed ID: 12836054
    [Abstract] [Full Text] [Related]

  • 3. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
    Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V.
    Am J Med Genet A; 2006 May 15; 140(10):1108-10. PubMed ID: 16619204
    [Abstract] [Full Text] [Related]

  • 4. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
    Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M.
    Am J Med Genet A; 2006 Mar 01; 140(5):496-502. PubMed ID: 16470790
    [Abstract] [Full Text] [Related]

  • 5. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.
    Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.
    Am J Med Genet A; 2005 Feb 01; 132A(4):402-10. PubMed ID: 15742475
    [Abstract] [Full Text] [Related]

  • 6. A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.
    Gimelli S, Makrythanasis P, Stouder C, Antonarakis SE, Bottani A, Béna F.
    Eur J Med Genet; 2011 Feb 01; 54(1):94-6. PubMed ID: 20933621
    [Abstract] [Full Text] [Related]

  • 7. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
    Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M.
    Am J Med Genet A; 2006 Apr 01; 140(7):704-8. PubMed ID: 16502431
    [Abstract] [Full Text] [Related]

  • 8. Case report: Y;6 translocation with deletion of 6p.
    Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A.
    Clin Dysmorphol; 2005 Apr 01; 14(2):93-96. PubMed ID: 15770132
    [Abstract] [Full Text] [Related]

  • 9. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA, Albertson DG, Pinkel D, Cotter PD.
    Am J Med Genet; 2002 Jun 01; 110(1):51-6. PubMed ID: 12116271
    [Abstract] [Full Text] [Related]

  • 10. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
    Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR.
    Am J Med Genet; 1997 Aug 08; 71(2):189-93. PubMed ID: 9217220
    [Abstract] [Full Text] [Related]

  • 11. Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.
    Riegel M, Morava E, Czakó M, Kosztolányi G, Schinzel A.
    Am J Med Genet; 2001 Aug 15; 102(3):227-30. PubMed ID: 11484198
    [Abstract] [Full Text] [Related]

  • 12. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
    Balci S, Engiz O, Aktaş D, Vargel I, Beksaç MS, Mrasek K, Vermeesch J, Liehr T.
    Am J Med Genet A; 2006 Mar 15; 140(6):628-32. PubMed ID: 16470698
    [Abstract] [Full Text] [Related]

  • 13. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
    Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A.
    Am J Med Genet A; 2007 Jan 15; 143A(2):172-8. PubMed ID: 17163532
    [Abstract] [Full Text] [Related]

  • 14. An interstitial deletion of chromosome 7 at band q21: a case report and review.
    Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.
    Am J Med Genet A; 2005 Apr 01; 134A(1):12-23. PubMed ID: 15732063
    [Abstract] [Full Text] [Related]

  • 15. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
    Peltekova IT, Hurteau-Millar J, Armour CM.
    Am J Med Genet A; 2014 Dec 01; 164A(12):3132-6. PubMed ID: 25257335
    [Abstract] [Full Text] [Related]

  • 16. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
    Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.
    Am J Med Genet A; 2005 Mar 01; 133A(2):180-3. PubMed ID: 15666301
    [Abstract] [Full Text] [Related]

  • 17. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C, Goecke TO, Majewski F, Bartsch O.
    Am J Med Genet; 2002 Nov 22; 113(2):207-12. PubMed ID: 12407714
    [Abstract] [Full Text] [Related]

  • 18. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
    Yamanishi T, Nishio J, Miya S, Okamoto N, Takahashi A, Toribe Y, Mukai T, Kobayashi C.
    Cleft Palate Craniofac J; 2008 May 22; 45(3):325-8. PubMed ID: 18452363
    [Abstract] [Full Text] [Related]

  • 19. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.
    Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.
    Am J Med Genet A; 2003 Mar 15; 117A(3):251-4. PubMed ID: 12599188
    [Abstract] [Full Text] [Related]

  • 20. Phenotype-genotype correlation in two patients with 12q proximal deletion.
    Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.
    J Hum Genet; 2004 Mar 15; 49(5):282-4. PubMed ID: 15362574
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.