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Journal Abstract Search

360 related items for PubMed ID: 18674645

  • 1. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
    Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H, Bint S, Ogilvie C.
    Eur J Med Genet; 2008; 51(6):608-14. PubMed ID: 18674645
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  • 2. 10p duplication characterized by fluorescence in situ hybridization.
    Wiktor A, Feldman GL, Kratkoczki P, Ditmars DM, Van Dyke DL.
    Am J Med Genet; 1994 Sep 01; 52(3):315-8. PubMed ID: 7528972
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  • 3. Duplication 9q34-->qter identified by chromosome painting.
    Spinner NB, Lucas JN, Poggensee M, Jacquette M, Schneider A.
    Am J Med Genet; 1993 Mar 01; 45(5):609-13. PubMed ID: 8456834
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  • 4. Ring chromosome 22 and autism: report and review.
    MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ.
    Am J Med Genet; 2000 Feb 28; 90(5):382-5. PubMed ID: 10706359
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  • 5. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.
    Tonk V, Schneider NR, Delgado MR, Mao J, Schultz RA.
    Am J Med Genet; 1996 Jan 02; 61(1):16-20. PubMed ID: 8741911
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  • 6. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
    Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D.
    Eur J Med Genet; 2013 Jul 02; 56(7):383-8. PubMed ID: 23608969
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  • 7. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
    Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.
    Am J Med Genet; 2001 Dec 01; 104(3):204-8. PubMed ID: 11754045
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  • 11. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
    Eur J Med Genet; 2005 Dec 01; 48(3):355-9. PubMed ID: 16179232
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  • 12. Constitutional tetrasomy 18p.
    Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I.
    Indian Pediatr; 2006 Apr 01; 43(4):357-60. PubMed ID: 16651677
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  • 15. Proximal trisomy 1q in a girl with developmental delay and minor anomalies.
    Furforo L, Rittler M, Slavutsky IR.
    Am J Med Genet; 1996 Sep 06; 64(4):551-5. PubMed ID: 8870921
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  • 16. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
    Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH.
    Hum Mutat; 2007 Jul 06; 28(7):674-82. PubMed ID: 17480035
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  • 17. 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 06; 53(1):74-8. PubMed ID: 24767651
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  • 20. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
    Moog U, Engelen JJ, Weber BW, Van Gelderen M, Steyaert J, Baas F, Sijstermans HM, Fryns JP.
    Genet Couns; 2004 Mar 06; 15(1):73-80. PubMed ID: 15083703
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