Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 19

    1.

    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. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14.

    PMID:
    22796526
    [PubMed - indexed for MEDLINE]
    2.

    Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations.

    Agergaard P, Olesen C, Østergaard JR, Christiansen M, Sørensen KM.

    Am J Med Genet A. 2012 Mar;158A(3):509-13. doi: 10.1002/ajmg.a.34441. Epub 2012 Feb 2.

    PMID:
    22302736
    [PubMed - indexed for MEDLINE]
    3.

    Evidence for involvement of GNB1L in autism.

    Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z.

    Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16.

    PMID:
    22095694
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    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 21;10(3):2148-54. doi: 10.4238/vol10-3gmr1339.

    PMID:
    21968682
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    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;56(11):810-2. doi: 10.1038/jhg.2011.100. Epub 2011 Aug 25.

    PMID:
    21866110
    [PubMed - indexed for MEDLINE]
    6.

    A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia.

    Liewluck T, Sacharow SJ, Fan Y, Lopez-Alberola R.

    J Child Neurol. 2011 Aug;26(8):1005-8. doi: 10.1177/0883073810394846. Epub 2011 May 13.

    PMID:
    21572057
    [PubMed - indexed for MEDLINE]
    7.

    De novo microduplication at 22q11.21 in a patient with VACTERL association.

    Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H.

    Eur J Med Genet. 2011 Jan-Feb;54(1):9-13. doi: 10.1016/j.ejmg.2010.09.001. Epub 2010 Sep 16.

    PMID:
    20849991
    [PubMed - indexed for MEDLINE]
    8.

    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 Mar-Apr;53(2):55-60. doi: 10.1016/j.ejmg.2009.12.005. Epub 2010 Jan 10.

    PMID:
    20060941
    [PubMed - indexed for MEDLINE]
    9.

    Association of syndromic mental retardation and autism with 22q11.2 duplication.

    Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM, Curatolo P.

    Neuropediatrics. 2009 Jun;40(3):137-40. doi: 10.1055/s-0029-1237724. Epub 2009 Dec 17.

    PMID:
    20020400
    [PubMed - indexed for MEDLINE]
    10.

    22q11.2 duplication and congenital heart defects.

    Rosa RF, Zen PR, Ricachinevsky CP, Pilla CB, Pereira VL, Roman T, Varella-Garcia M, Paskulin GA.

    Arq Bras Cardiol. 2009 Oct;93(4):e67-9, e55-7. English, Portuguese, Spanish. No abstract available.

    PMID:
    19936446
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    Genetic compensation in a human genomic disorder.

    Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E.

    N Engl J Med. 2009 Mar 19;360(12):1211-6. doi: 10.1056/NEJMoa0806544.

    PMID:
    19297573
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.

    Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.

    Cardiol Young. 2009 Apr;19(2):179-84. doi: 10.1017/S1047951109003667. Epub 2009 Feb 19.

    PMID:
    19224675
    [PubMed - indexed for MEDLINE]
    13.

    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;50(12):953-5. doi: 10.1111/j.1469-8749.2008.03048.x.

    PMID:
    19046189
    [PubMed - indexed for MEDLINE]
    14.

    Clinical variability of the 22q11.2 duplication syndrome.

    Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC.

    Eur J Med Genet. 2008 Nov-Dec;51(6):501-10. doi: 10.1016/j.ejmg.2008.07.005. Epub 2008 Jul 29.

    PMID:
    18707033
    [PubMed - indexed for MEDLINE]
    15.

    Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.

    Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D.

    Clin Genet. 2008 Feb;73(2):160-4. Epub 2007 Dec 12.

    PMID:
    18076674
    [PubMed - indexed for MEDLINE]
    16.

    Autistic disorder and 22q11.2 duplication.

    Mukaddes NM, Herguner S.

    World J Biol Psychiatry. 2007;8(2):127-30.

    PMID:
    17455106
    [PubMed - indexed for MEDLINE]
    17.

    Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

    Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D.

    Eur J Hum Genet. 2007 Jun;15(6):658-63. Epub 2007 Mar 21.

    PMID:
    17377518
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.

    Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G.

    Am J Med Genet A. 2007 Jan 15;143(2):129-34.

    PMID:
    17163526
    [PubMed - indexed for MEDLINE]
    19.

    22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

    Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

    Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

    PMID:
    16007629
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk