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Journal Abstract Search

196 related items for PubMed ID: 26297194

  • 21. Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.
    Goitia V, Oquendo M, Stratton R.
    Case Rep Genet; 2015; 2015():212436. PubMed ID: 25893121
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  • 23. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
    Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M.
    Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487
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  • 25. 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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  • 26. 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
    Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P.
    Eur J Med Genet; 2018 Aug 21; 61(8):428-433. PubMed ID: 29501613
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  • 28. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
    Lee CG, Cho E, Ahn YM.
    Eur J Med Genet; 2016 Apr 21; 59(4):210-4. PubMed ID: 26873618
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  • 30. Familial 7q11.23 duplication with variable phenotype.
    Patil SJ, Salian S, Bhat V, Girisha KM, Shrivastava Y, Vs K, Sapare A.
    Am J Med Genet A; 2015 Nov 21; 167A(11):2727-30. PubMed ID: 26109321
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  • 31. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
    Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P.
    Eur J Med Genet; 2014 Apr 21; 57(5):200-6. PubMed ID: 24462886
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  • 32. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
    Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E.
    Ital J Pediatr; 2010 Feb 02; 36():12. PubMed ID: 20205897
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  • 33. A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
    Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D.
    Eur J Med Genet; 2010 Feb 02; 53(5):325-8. PubMed ID: 20621612
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  • 34. Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
    Kamien B, Digilio MC, Novelli A, O'Donnell S, Bain N, Meldrum C, Dudding-Byth T, Scott RJ, Goel H.
    Eur J Med Genet; 2015 Nov 02; 58(11):629-33. PubMed ID: 26475974
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  • 35. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
    Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.
    Mol Genet Metab; 2013 Nov 02; 110(1-2):90-7. PubMed ID: 23920044
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  • 36. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
    Wang D, Zeesman S, Tarnopolsky MA, Nowaczyk MJ.
    Am J Med Genet A; 2013 Aug 02; 161A(8):2016-9. PubMed ID: 23794269
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  • 37. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
    Nakane T, Kousuke N, Sonoko H, Yuko K, Sato H, Kubota T, Sugita K.
    Pediatr Int; 2013 Jun 02; 55(3):376-81. PubMed ID: 23782370
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  • 38. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
    Bertini V, Cambi F, Bruno R, Toschi B, Forli F, Berrettini S, Simi P, Valetto A.
    J Hum Genet; 2015 Dec 02; 60(12):777-80. PubMed ID: 26354035
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  • 39. Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
    Leffler M, Puusepp S, Žilina O, Zhu Y, Kuuse K, Bain N, Burgess T, Õunap K, Field M.
    Eur J Med Genet; 2016 Apr 02; 59(4):257-62. PubMed ID: 26689622
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  • 40. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.
    Pavone P, Corsello G, Marino SD, Ruggieri M, Falsaperla R.
    Epilepsy Res; 2019 Dec 02; 158():106223. PubMed ID: 31707317
    [Abstract] [Full Text] [Related]

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