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Journal Abstract Search

432 related items for PubMed ID: 8599356

  • 1. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
    Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R.
    Am J Med Genet; 1995 Nov 20; 59(3):329-33. PubMed ID: 8599356
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  • 3. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
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  • 4. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.
    Yano S, Baskin B, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Ray PN.
    Clin Genet; 2011 Nov 15; 80(5):466-71. PubMed ID: 20950395
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  • 5. A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.
    Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, Hellenbroich Y.
    Eur J Med Genet; 2011 Nov 15; 54(3):343-7. PubMed ID: 21362501
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  • 6. New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.
    Wittwer B, Kircheisen R, Leutelt J, Orth U, Gal A.
    Am J Med Genet; 1996 Jul 12; 64(1):42-9. PubMed ID: 8826447
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  • 8. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.
    Brooks SS, Wisniewski K, Brown WT.
    Am J Med Genet; 1994 Jul 15; 51(4):586-90. PubMed ID: 7943044
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  • 9. [Anesthetic management in a patient with Simpson-Golabi-Behmel syndrome].
    Tsuchiya K, Takahata O, Sengoku K, Hamada I, Suzuki A, Iwasaki H.
    Masui; 2001 Oct 15; 50(10):1106-8. PubMed ID: 11712343
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  • 10. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.
    Chudley AE, Lowry RB, Hoar DI.
    Am J Med Genet; 1988 Dec 15; 31(4):741-51. PubMed ID: 3239563
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  • 11. The Golabi-Rosen syndrome--report of a second family.
    Opitz JM.
    Am J Med Genet; 1984 Jan 15; 17(1):359-66. PubMed ID: 6538756
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  • 13. Aarskog syndrome: report of a family with review and discussion of nosology.
    Teebi AS, Rucquoi JK, Meyn MS.
    Am J Med Genet; 1993 Jun 15; 46(5):501-9. PubMed ID: 8322809
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  • 14. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.
    Lin AE, Neri G, Hughes-Benzie R, Weksberg R.
    Am J Med Genet; 1999 Apr 23; 83(5):378-81. PubMed ID: 10232747
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  • 16. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.
    Brzustowicz LM, Farrell S, Khan MB, Weksberg R.
    Am J Hum Genet; 1999 Sep 23; 65(3):779-83. PubMed ID: 10441586
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  • 17. Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.
    Richieri-Costa A, Guion-Almeida ML, Pagnan NA.
    Am J Med Genet; 1992 Dec 01; 44(6):800-2. PubMed ID: 1481850
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  • 18. A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.
    Bottani A, Schinzel A.
    Clin Dysmorphol; 1993 Jul 01; 2(3):225-31. PubMed ID: 8287184
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  • 19. New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome.
    Glamuzina E, Aftimos S, Keesing M, Mahadevan M.
    Int J Pediatr Otorhinolaryngol; 2009 Oct 01; 73(10):1464-6. PubMed ID: 19631996
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  • 20. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
    Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R.
    Am J Med Genet; 2001 Aug 01; 102(2):161-8. PubMed ID: 11477610
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