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Journal Abstract Search

1002 related items for PubMed ID: 24767651

  • 1. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
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  • 2. 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. PubMed ID: 21968682
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  • 4. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.
    J Appl Genet; 2017 Feb 21; 58(1):93-98. PubMed ID: 27629806
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  • 7. 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 21; 55(11):650-5. PubMed ID: 22796526
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  • 9. Concurrent microdeletion and duplication of 22q11.2.
    Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.
    Clin Genet; 2008 Jul 21; 74(1):61-7. PubMed ID: 18445048
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  • 11. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Jul 21; 19(4):365-71. PubMed ID: 19239079
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  • 15. 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 21; 71(2):177-82. PubMed ID: 17250668
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  • 17. An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
    Goldenberg P.
    Pediatr Ann; 2018 May 01; 47(5):e198-e203. PubMed ID: 29750287
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  • 18. 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. PubMed ID: 16007629
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  • 19. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
    Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C.
    Eur J Med Genet; 2020 Dec 15; 63(12):104084. PubMed ID: 33045407
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  • 20. Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.
    Yang Y, Wang C, Wang F, Zhu L, Liu H, He X.
    Gene; 2012 Jul 10; 502(2):154-8. PubMed ID: 22555022
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