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Journal Abstract Search

309 related items for PubMed ID: 8418661

  • 1. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.
    Brown S, Gersen S, Anyane-Yeboa K, Warburton D.
    Am J Med Genet; 1993 Jan 01; 45(1):52-9. PubMed ID: 8418661
    [Abstract] [Full Text] [Related]

  • 2.
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  • 3. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
    Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L.
    Eur J Med Genet; 2009 Jan 01; 52(1):41-6. PubMed ID: 19022413
    [Abstract] [Full Text] [Related]

  • 4. A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies.
    Zackowski JL, Raffel LJ, McDaniel LD, Schwartz S.
    Ann Genet; 1990 Jan 01; 33(2):113-6. PubMed ID: 2241085
    [Abstract] [Full Text] [Related]

  • 5. Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.
    Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M.
    Am J Med Genet; 1988 Apr 01; 29(4):739-53. PubMed ID: 3400720
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 7. [Wolf syndrome. Apropos of 2 cases].
    García González P, Pedraz García C, Merino Marcos L, Salazar Veloz J, Escudero Bueno G, Salazar Villalobos V.
    An Esp Pediatr; 1983 Feb 16; 18(2):113-7. PubMed ID: 6881733
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  • 8. Small terminal deletions of the long arm of chromosome 2: two new cases.
    Fisher AM, Ellis KH, Browne CE, Barber JC, Barker M, Kennedy CR, Foley H, Patton MA.
    Am J Med Genet; 1994 Dec 01; 53(4):366-9. PubMed ID: 7532357
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  • 9. Expansion of the deletion 13q syndrome phenotype: a case report.
    Lance EI, DuPont BR, Holden KR.
    J Child Neurol; 2007 Sep 01; 22(9):1124-7. PubMed ID: 17890413
    [Abstract] [Full Text] [Related]

  • 10. Interstitial deletion of 10q: clinical features and literature review.
    Lobo S, Cervenka J, London A, Pierpont ME.
    Am J Med Genet; 1992 Jul 01; 43(4):701-3. PubMed ID: 1621761
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  • 11. A patient with 13q-syndrome with mild mental retardation and with growth retardation.
    Stoll C, Alembik Y.
    Ann Genet; 1998 Jul 01; 41(4):209-12. PubMed ID: 9881184
    [Abstract] [Full Text] [Related]

  • 12. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.
    Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N.
    J Hum Genet; 1998 Jul 01; 43(2):138-42. PubMed ID: 9621521
    [Abstract] [Full Text] [Related]

  • 13. 13q deletion syndrome in an adult mentally retarded patient.
    Van Buggenhout G, Trommelen J, Hamel B, Fryns JP.
    Genet Couns; 1999 Jul 01; 10(2):177-81. PubMed ID: 10422012
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  • 14. Phenotype associated with ring 10 chromosome: report of patient and review of literature.
    Michels VV, Driscoll DJ, Ledbetter DH, Riccardi VM.
    Am J Med Genet; 1981 Jul 01; 9(3):231-7. PubMed ID: 7025632
    [Abstract] [Full Text] [Related]

  • 15. Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).
    Fryns JP, Kleczkowska A, Vogels A, Van den Berghe H.
    Ann Genet; 1989 Jul 01; 32(3):171-3. PubMed ID: 2573313
    [Abstract] [Full Text] [Related]

  • 16. Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.
    Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, Kawira EL, Bender HA.
    Am J Med Genet; 1984 Feb 01; 17(2):437-50. PubMed ID: 6199974
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  • 17. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL, Rao KW, Korf B.
    Am J Med Genet; 1993 Jan 01; 45(1):97-100. PubMed ID: 8418669
    [Abstract] [Full Text] [Related]

  • 18. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.
    Eur J Med Genet; 2007 Jan 01; 50(6):455-64. PubMed ID: 17720646
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
    Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
    Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):257-69. PubMed ID: 18932124
    [Abstract] [Full Text] [Related]

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