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Journal Abstract Search

153 related items for PubMed ID: 8291531

  • 1. Autopsy findings in a severely affected infant with a 2q terminal deletion.
    Waters BL, Allen EF, Gibson PC, Johnston T.
    Am J Med Genet; 1993 Nov 15; 47(7):1099-103. PubMed ID: 8291531
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  • 2. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
    Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P.
    Am J Med Genet; 1987 Feb 15; 26(2):481-91. PubMed ID: 3812597
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  • 3. Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant.
    Donahue ML, Ryan RM.
    Am J Med Genet; 1995 Mar 13; 56(1):97-100. PubMed ID: 7747796
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  • 4. Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.
    Davis E, Grafe M, Cunniff C, Jones KL, Bogart M.
    Clin Genet; 1991 May 13; 39(5):386-90. PubMed ID: 1860256
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  • 5. Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.
    Gambrelle J, Till M, Lukusa B, Beby F, Mory N, Sann L, Kodjikian L, Grange JD, Putet G.
    Ophthalmic Genet; 2007 Jun 13; 28(2):105-9. PubMed ID: 17558854
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  • 6. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
    Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.
    Ann Genet; 1993 Jun 13; 36(4):217-20. PubMed ID: 8166428
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  • 7. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).
    Wang TH, Johnston K, Hsieh CL, Dennery PA.
    Am J Med Genet; 1994 Feb 15; 49(4):399-401. PubMed ID: 8160733
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  • 8. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML, Pai GS, Wilkes B, Lebel RR.
    Am J Med Genet; 2001 Aug 15; 102(3):237-42. PubMed ID: 11484200
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  • 9. Ring chromosome 4 in a child with duodenal atresia.
    Halal F, Vekemans M.
    Am J Med Genet; 1990 Sep 15; 37(1):79-82. PubMed ID: 2240048
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  • 13. Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.
    van Dorp DB, Palan A, Kwee ML, Barth PG, van der Harten JJ.
    Am J Med Genet; 1991 Jul 01; 40(1):100-4. PubMed ID: 1887836
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  • 14. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
    Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL.
    Am J Med Genet; 1995 Jan 16; 55(2):155-60. PubMed ID: 7717414
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  • 15. Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome.
    Yu CW, Chen H, Baucum RW, Hand AM.
    Ann Genet; 1981 Jan 16; 24(3):158-61. PubMed ID: 6974525
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  • 16. [Syndrome of terminal deletion of the long arm of chromosome 4. Apropos of a personal case with a review of the literature].
    Frappaz D, Bourgeois J, Berthier JC, Laurent C, Bethenod M.
    Pediatrie; 1983 Jun 16; 38(4):261-70. PubMed ID: 6353348
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  • 17. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
    Lindor NM, Michels VV, Hoppe DA, Driscoll DJ, Leavitt JA, Dewald GW.
    Am J Med Genet; 1992 Sep 01; 44(1):61-5. PubMed ID: 1519653
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  • 18. Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.
    Gul A, Cebeci A, Erol O, Ceylan Y, Basaran S, Yuksel A.
    Obstet Gynecol; 2005 May 01; 105(5 Pt 2):1227-9. PubMed ID: 15863591
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  • 19. A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.
    Halal F, Vekemans M, Der Kaloustian VM.
    Am J Med Genet; 1989 Mar 01; 32(3):376-9. PubMed ID: 2658588
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