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Journal Abstract Search

227 related items for PubMed ID: 9182777

  • 1. A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
    Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK.
    Am J Med Genet; 1997 Jun 27; 70(4):371-6. PubMed ID: 9182777
    [Abstract] [Full Text] [Related]

  • 2. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.
    Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.
    Am J Med Genet; 1999 Nov 05; 87(1):17-22. PubMed ID: 10528241
    [Abstract] [Full Text] [Related]

  • 3. Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
    Monaghan KG, Van Dyke DL, Wiktor A, Feldman GL.
    Am J Med Genet; 1997 Dec 12; 73(2):180-3. PubMed ID: 9409869
    [Abstract] [Full Text] [Related]

  • 4. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.
    Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M.
    Am J Med Genet; 1992 Jul 01; 43(4):747-50. PubMed ID: 1621768
    [Abstract] [Full Text] [Related]

  • 5. A new case of a severe clinical phenotype of the cat-eye syndrome.
    Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF.
    Genet Couns; 2004 Jul 01; 15(4):443-8. PubMed ID: 15658620
    [Abstract] [Full Text] [Related]

  • 6. An emerging phenotype of proximal 11q deletions.
    Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G.
    Eur J Med Genet; 2010 Jul 01; 53(5):340-3. PubMed ID: 20688202
    [Abstract] [Full Text] [Related]

  • 7. Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.
    Luquet I, Favre B, Nadal N, Madinier N, Khau Van Kien P, Huet F, Nivelon-Chevallier A, Mugneret F.
    Ann Genet; 1999 Jul 01; 42(1):33-9. PubMed ID: 10214505
    [Abstract] [Full Text] [Related]

  • 8. Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.
    Mdzin R, Ko C, Abdul Latif Z, Zakaria Z.
    Singapore Med J; 2008 Nov 01; 49(11):e336-9. PubMed ID: 19037546
    [Abstract] [Full Text] [Related]

  • 9. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome.
    Fujiwara M, Yoshimoto T, Morita Y, Kamada M.
    Am J Med Genet; 1992 Jun 01; 43(3):561-4. PubMed ID: 1605249
    [Abstract] [Full Text] [Related]

  • 10. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.
    Kulharya AS, Michaelis RC, Norris KS, Taylor HA, Garcia-Heras J.
    Am J Med Genet; 1998 Jun 05; 77(5):391-4. PubMed ID: 9632168
    [Abstract] [Full Text] [Related]

  • 11. [Ophthalmologic findings in 11 q-deletion syndrome].
    Bialasiewicz AA, Mayer UM, Meythaler FH.
    Klin Monbl Augenheilkd; 1987 Jun 05; 190(6):524-6. PubMed ID: 3626412
    [Abstract] [Full Text] [Related]

  • 12. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.
    McMilin KD, Reiss JA, Brown MG, Black MH, Buckmaster DA, Durum CT, Gunter KA, Lawce HJ, Berry TL, Lamb OA, Olson CL, Weeks FF, Yoshitomi MJ, Jacky PB, Olson SB, Magenis RE.
    Am J Med Genet; 1998 Jun 16; 78(1):36-43. PubMed ID: 9637421
    [Abstract] [Full Text] [Related]

  • 13. A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.
    Matheisel A, Babinska M, Wierzba J, Wozniak A, Nedoszytko B, Balcerska A, Limon J.
    Genet Couns; 2000 Jun 16; 11(3):267-71. PubMed ID: 11043435
    [Abstract] [Full Text] [Related]

  • 14. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
    [Abstract] [Full Text] [Related]

  • 15. Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21).
    Holden JJ, MacDonald EA.
    Am J Med Genet; 1985 Feb 10; 20(2):245-8. PubMed ID: 2579554
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
    Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.
    Genet Couns; 2001 Feb 10; 12(3):273-82. PubMed ID: 11693792
    [Abstract] [Full Text] [Related]

  • 17. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
    Takano T, Yamanouchi Y, Mori Y, Kudo S, Nakayama T, Sugiura M, Hashira S, Abe T.
    Am J Med Genet; 1997 Jan 20; 68(2):207-10. PubMed ID: 9028459
    [Abstract] [Full Text] [Related]

  • 18. Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
    Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R.
    Am J Med Genet; 1988 Jan 20; 29(1):9-19. PubMed ID: 3344779
    [Abstract] [Full Text] [Related]

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  • 20. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.
    Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA.
    Genet Couns; 1994 Jan 20; 5(1):11-4. PubMed ID: 8031530
    [Abstract] [Full Text] [Related]

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