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Journal Abstract Search

225 related items for PubMed ID: 7199254

  • 1. A 49,XXXYY male.
    Salamanca-Gòmez F, Cortès R, Sànchez J, Armendares S.
    Am J Med Genet; 1981; 10(4):351-5. PubMed ID: 7199254
    [No Abstract] [Full Text] [Related]

  • 2. [The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years].
    Plauchu H, Charrin C, Kossmann JC.
    J Genet Hum; 1984 Sep; 32(4):299-306. PubMed ID: 6491641
    [Abstract] [Full Text] [Related]

  • 3. [Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].
    Stein A, Heilbronner H, Jungmann J.
    Z Kinder Jugendpsychiatr; 1994 Jun; 22(2):130-4. PubMed ID: 8053267
    [Abstract] [Full Text] [Related]

  • 4. Escalante syndrome and the marker X chromosome.
    Vianna-Morgante AM, Armando I, Frota-Pessoa O.
    Am J Med Genet; 1982 Jun; 12(2):237-40. PubMed ID: 7201744
    [No Abstract] [Full Text] [Related]

  • 5. Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.
    Fryns JP, Kleczkowska A, Van Den Berghe H.
    Genet Couns; 1990 Jun; 1(2):173-7. PubMed ID: 2081001
    [No Abstract] [Full Text] [Related]

  • 6. [48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature].
    Donati F, Gasser S, Mullis P, Braga S, Vassella F.
    Monatsschr Kinderheilkd; 1992 Apr; 140(4):216-9. PubMed ID: 1614446
    [Abstract] [Full Text] [Related]

  • 7. [Description of a family with 3 brothers with X-linked mental retardation and fragile site Xq 27 der mat].
    Ventruto V, D'Avanzo M, Stabile M, Tolone C, Santinelli R, Dell'Aria V, Toraldo R, De Tollis G.
    Pediatria (Napoli); 1983 Apr; 91(2-3):241-50. PubMed ID: 6420768
    [No Abstract] [Full Text] [Related]

  • 8. [Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias].
    Fehlow P, Miosge W, Walther F.
    Klin Padiatr; 1993 Apr; 205(2):127-9. PubMed ID: 8487481
    [Abstract] [Full Text] [Related]

  • 9. [Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication].
    Reichenbach H, Holland H, Thamm B, Theile T.
    Kinderarztl Prax; 1993 Oct; 61(7-8):291-5. PubMed ID: 8271681
    [Abstract] [Full Text] [Related]

  • 10. [Chromosome X-linked mental retardation and marfanoid syndrome].
    Fryns JP, Buttiens M, van den Berghe H.
    J Genet Hum; 1988 Jan; 36(1-2):123-8. PubMed ID: 3379374
    [Abstract] [Full Text] [Related]

  • 11. Pentasomy X: report of patient and studies of X-inactivation.
    Funderburk SJ, Valente M, Klisak I.
    Am J Med Genet; 1981 Jan; 8(1):27-33. PubMed ID: 7246603
    [Abstract] [Full Text] [Related]

  • 12. De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.
    Johnston K, Schonberg S, Littman V, Gregory T, Gelbart S, O'Donnell J, Cox DR.
    Am J Med Genet; 1987 Jul; 27(3):603-11. PubMed ID: 3631132
    [Abstract] [Full Text] [Related]

  • 13. The 47,XXY karyotype and unrelated malformative patterns: an unusual association.
    Aricò M, Colombo A, Maserati E, Pasquali F, Burgio GR.
    Helv Paediatr Acta; 1987 Jun; 42(5-6):457-61. PubMed ID: 3454351
    [Abstract] [Full Text] [Related]

  • 14. XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
    Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H.
    Genet Couns; 1995 Jun; 6(3):197-206. PubMed ID: 8588846
    [Abstract] [Full Text] [Related]

  • 15. A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies.
    Nielsen KB, Dyggve HV, Knudsen H, Olsen J.
    Dan Med Bull; 1983 Feb; 30(1):5-13. PubMed ID: 6831943
    [No Abstract] [Full Text] [Related]

  • 16. A 48,XXXX female with absence of ovaries.
    Collen RJ, Falk RE, Lippe BM, Kaplan SA.
    Am J Med Genet; 1980 Feb; 6(4):275-8. PubMed ID: 7211945
    [Abstract] [Full Text] [Related]

  • 17. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
    Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K.
    J Med Genet; 1996 Sep; 33(9):767-71. PubMed ID: 8880579
    [Abstract] [Full Text] [Related]

  • 18. 49,XXXXX syndrome.
    Fragoso R, Hernandez A, Plascencia ML, Nazara Z, Martinez y Martinez R, Cantu JM.
    Ann Genet; 1982 Sep; 25(3):145-8. PubMed ID: 6982661
    [Abstract] [Full Text] [Related]

  • 19. X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?
    Fryns JP, Van Den Berghe H.
    Genet Couns; 1991 Sep; 2(4):241-4. PubMed ID: 1799424
    [Abstract] [Full Text] [Related]

  • 20. [Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome].
    Nielsen KB, Lindholt J, Tommerup N, Poulsen H, Mikkelsen M.
    Ugeskr Laeger; 1981 Jul 06; 143(28):1747-51. PubMed ID: 7292753
    [No Abstract] [Full Text] [Related]

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