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Journal Abstract Search

300 related items for PubMed ID: 17666889

  • 1. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
    Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.
    Genet Med; 2007 Jul; 9(7):427-41. PubMed ID: 17666889
    [Abstract] [Full Text] [Related]

  • 2. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
    Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.
    Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
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  • 3. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
    Mohan S, Nampoothiri S, Yesodharan D, Venkatesan V, Koshy T, Paul SF, Perumal V.
    Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036
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  • 4. Autism, language delay and mental retardation in a patient with 7q11 duplication.
    Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, LeGuern E, Leboyer M, Brice A.
    J Med Genet; 2007 Jul; 44(7):452-8. PubMed ID: 17400790
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  • 5. 7q11.23 Microduplication: a recognizable phenotype.
    Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A.
    Clin Genet; 2013 Feb; 83(2):155-61. PubMed ID: 22369319
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  • 7. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
    Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.
    J Med Genet; 2010 Apr; 47(4):271-5. PubMed ID: 19752158
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  • 8. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
    Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, Grozeva D, O'Donovan MC, Owen MJ, Hultman CM, Kähler AK, Sullivan PF, Molecular Genetics of Schizophrenia Consortium, Kirov G, Warren ST.
    Biol Psychiatry; 2014 Mar 01; 75(5):371-7. PubMed ID: 23871472
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  • 9. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.
    Am J Med Genet A; 2015 Dec 01; 167A(12):3197-203. PubMed ID: 26420477
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  • 10. 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 01; 63(12):104084. PubMed ID: 33045407
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  • 11. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
    Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.
    Eur J Med Genet; 2009 Dec 01; 52(2-3):94-100. PubMed ID: 19249392
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  • 12. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A.
    Ann Hum Genet; 2018 Nov 01; 82(6):469-476. PubMed ID: 30155880
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  • 13. Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.
    Wang F, Peng H, Lou G, Ren Y, Liao S.
    Prenat Diagn; 2024 Oct 01; 44(11):1398-1411. PubMed ID: 39304981
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  • 14. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.
    Eur J Hum Genet; 2014 Jan 01; 22(1):64-70. PubMed ID: 23756441
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  • 16. Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
    Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ.
    J Autism Dev Disord; 2012 Jul 01; 42(7):1459-69. PubMed ID: 22048961
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  • 17. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
    Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.
    Eur J Hum Genet; 2007 Jan 01; 15(1):62-7. PubMed ID: 17075606
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  • 18. Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.
    Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F.
    J Med Genet; 2008 Mar 01; 45(3):187-9. PubMed ID: 18310268
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  • 19. Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics.
    Cupaioli FA, Fallerini C, Mencarelli MA, Perticaroli V, Filippini V, Mari F, Renieri A, Mezzelani A.
    Genes (Basel); 2021 Oct 12; 12(10):. PubMed ID: 34680999
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  • 20. Autism and Williams syndrome: a case report.
    Herguner S, Mukaddes NM.
    World J Biol Psychiatry; 2006 Oct 12; 7(3):186-8. PubMed ID: 16861145
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