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237 related items for PubMed ID: 23059467

  • 1. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.
    Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L.
    Eur J Med Genet; 2012 Dec; 55(12):732-6. PubMed ID: 23059467
    [Abstract] [Full Text] [Related]

  • 2. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF.
    Eur J Med Genet; 2009 Dec; 52(2-3):88-93. PubMed ID: 19254783
    [Abstract] [Full Text] [Related]

  • 3. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.
    Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
    [Abstract] [Full Text] [Related]

  • 4. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009 Nov; 52(5):321-7. PubMed ID: 19467348
    [Abstract] [Full Text] [Related]

  • 5. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
    Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.
    Gene; 2014 Feb 15; 536(1):213-6. PubMed ID: 24315824
    [Abstract] [Full Text] [Related]

  • 6. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
    Hu P, Ji X, Yang C, Zhang J, Lin Y, Cheng J, Ma D, Cao L, Yi L, Xu Z.
    Eur J Med Genet; 2011 Feb 15; 54(4):e433-6. PubMed ID: 21473936
    [Abstract] [Full Text] [Related]

  • 7. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
    Pires R, Pires LM, Vaz SO, Maciel P, Anjos R, Moniz R, Branco CC, Cabral R, Carreira IM, Mota-Vieira L.
    BMC Genet; 2014 Nov 07; 15():115. PubMed ID: 25376777
    [Abstract] [Full Text] [Related]

  • 8. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.
    Christopoulou G, Sismani C, Sakellariou M, Saklamaki M, Athanassiou V, Velissariou V.
    Gene; 2013 Sep 25; 527(2):694-7. PubMed ID: 23506827
    [Abstract] [Full Text] [Related]

  • 9. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.
    Shimojima K, Okamoto N, Inazu T, Yamamoto T.
    J Hum Genet; 2011 Nov 25; 56(11):810-2. PubMed ID: 21866110
    [Abstract] [Full Text] [Related]

  • 10. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
    Clin Genet; 2007 Feb 25; 71(2):177-82. PubMed ID: 17250668
    [Abstract] [Full Text] [Related]

  • 11. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
    Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G.
    Dev Med Child Neurol; 2008 Dec 25; 50(12):953-5. PubMed ID: 19046189
    [Abstract] [Full Text] [Related]

  • 12. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.
    Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.
    BMC Med Genet; 2007 Apr 02; 8():14. PubMed ID: 17397557
    [Abstract] [Full Text] [Related]

  • 13. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
    Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.
    Eur J Med Genet; 2010 Apr 02; 53(2):61-5. PubMed ID: 20045748
    [Abstract] [Full Text] [Related]

  • 14. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
    Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, Ebert AK, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M.
    Eur J Med Genet; 2010 Apr 02; 53(2):55-60. PubMed ID: 20060941
    [Abstract] [Full Text] [Related]

  • 15. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC.
    Ultrasound Obstet Gynecol; 2014 Apr 02; 43(4):396-403. PubMed ID: 23828768
    [Abstract] [Full Text] [Related]

  • 16. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.
    J Med Genet; 2012 Nov 02; 49(11):681-8. PubMed ID: 23042811
    [Abstract] [Full Text] [Related]

  • 17. 22q11.2 Microduplication with thyroid hemiagenesis.
    Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH.
    Horm Res Paediatr; 2013 Nov 02; 79(4):243-9. PubMed ID: 23364243
    [Abstract] [Full Text] [Related]

  • 18. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.
    Hum Mutat; 2005 Aug 02; 26(2):78-83. PubMed ID: 15957176
    [Abstract] [Full Text] [Related]

  • 19. [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].
    Eirís-Puñal J, Iglesias-Meleiro JM, Blanco-Barca MO, Fuster-Siebert M, Barros-Angueira F, Ansede A, Castro-Gago M.
    Rev Neurol; 2005 Aug 02; 37(7):601-7. PubMed ID: 14582013
    [Abstract] [Full Text] [Related]

  • 20. An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
    Diehl A, Mu W, Batista D, Gunay-Aygun M.
    Am J Med Genet A; 2015 Jul 02; 167(7):1644-9. PubMed ID: 25823593
    [Abstract] [Full Text] [Related]

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