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Journal Abstract Search

299 related items for PubMed ID: 2425619

  • 1. Interstitial deletion of (17)(p11.2p11.2) in nine patients.
    Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E.
    Am J Med Genet; 1986 Jul; 24(3):393-414. PubMed ID: 2425619
    [Abstract] [Full Text] [Related]

  • 2. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
    Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM.
    Am J Med Genet; 1986 Jul; 24(3):421-32. PubMed ID: 3728561
    [Abstract] [Full Text] [Related]

  • 3. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).
    Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T.
    Am J Med Genet; 1991 Nov 01; 41(2):225-9. PubMed ID: 1785639
    [Abstract] [Full Text] [Related]

  • 4. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 01; 121(2):404-10. PubMed ID: 18245432
    [Abstract] [Full Text] [Related]

  • 5. Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.
    Fischer H, Oswald HP, Duba HC, Doczy L, Simma B, Utermann G, Haas OA.
    Klin Padiatr; 1993 Feb 01; 205(3):162-6. PubMed ID: 8350589
    [Abstract] [Full Text] [Related]

  • 6. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.
    Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J.
    Am J Med Genet; 1988 Nov 01; 31(3):533-48. PubMed ID: 3067575
    [Abstract] [Full Text] [Related]

  • 7. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].
    Wilson MG, Towner JW, Forsman I, Siris E.
    Am J Med Genet; 1979 Nov 01; 3(2):155-74. PubMed ID: 474629
    [Abstract] [Full Text] [Related]

  • 8. [Interstitial deletion of the long arm of one 11 chromosome].
    Taillemite JL, Morlier BG, Roux C.
    Ann Genet; 1975 Mar 01; 18(1):61-3. PubMed ID: 1080039
    [Abstract] [Full Text] [Related]

  • 9. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25.
    Taysi K, Sekhon GS, Hillman RE.
    Am J Med Genet; 1982 Dec 01; 13(4):423-30. PubMed ID: 7158642
    [No Abstract] [Full Text] [Related]

  • 10. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.
    Beall MH, Falk RE, Ying KL.
    Am J Med Genet; 1988 Nov 01; 31(3):553-7. PubMed ID: 3067576
    [Abstract] [Full Text] [Related]

  • 11. Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3.
    Petersen B, Strassburg HM, Feichtinger W, Kress W, Schmid M.
    Am J Med Genet; 1998 Apr 28; 77(1):60-2. PubMed ID: 9557896
    [Abstract] [Full Text] [Related]

  • 12. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413
    [Abstract] [Full Text] [Related]

  • 13. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
    D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.
    Eur J Med Genet; 2006 Jan 16; 49(6):451-60. PubMed ID: 16564757
    [Abstract] [Full Text] [Related]

  • 14. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Eur J Med Genet; 2005 Jan 16; 48(3):276-89. PubMed ID: 16179223
    [Abstract] [Full Text] [Related]

  • 15. Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
    Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart MJ, Prieur M, Dubos M, Cabanis MO, Mugneret F, Blanc P, Noel L.
    Ann Genet; 1992 Jan 16; 35(3):146-51. PubMed ID: 1466563
    [Abstract] [Full Text] [Related]

  • 16. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
    White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.
    Am J Med Genet; 1995 Jul 17; 57(4):588-97. PubMed ID: 7573135
    [Abstract] [Full Text] [Related]

  • 17. Multiple critical smallest region of overlap in monosomy 16Q syndrome?
    Doco-Fenzy M, Elchardus JF, Brami G, Digeon B, Gruson N, Adnet JJ.
    Genet Couns; 1994 Jul 17; 5(1):39-44. PubMed ID: 8031534
    [Abstract] [Full Text] [Related]

  • 18. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
    Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen MM.
    Am J Med Genet; 1996 Apr 24; 62(4):372-5. PubMed ID: 8723067
    [Abstract] [Full Text] [Related]

  • 19. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
    Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI.
    Am J Med Genet; 1996 Dec 11; 66(2):193-6. PubMed ID: 8958329
    [Abstract] [Full Text] [Related]

  • 20. Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: a 4p deletion?
    de Die-Smulders C, Schrander-Stumpel C, Fryns JP.
    Am J Med Genet; 1993 Nov 01; 47(6):936. PubMed ID: 7506486
    [No Abstract] [Full Text] [Related]

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