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Journal Abstract Search

179 related items for PubMed ID: 517579

  • 1. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979; 4(3):239-46. PubMed ID: 517579
    [Abstract] [Full Text] [Related]

  • 2. The Perrault syndrome: clinical report and review.
    Nishi Y, Hamamoto K, Kajiyama M, Kawamura I.
    Am J Med Genet; 1988 Nov; 31(3):623-9. PubMed ID: 3067578
    [Abstract] [Full Text] [Related]

  • 3. Perrault's syndrome in two sisters.
    Bösze P, Skripeczky K, Gaál M, Tóth A, László J.
    Am J Med Genet; 1983 Oct; 16(2):237-41. PubMed ID: 6650568
    [Abstract] [Full Text] [Related]

  • 4. Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.
    Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL.
    Am J Med Genet; 1996 Jun 28; 63(4):518-24. PubMed ID: 8826428
    [Abstract] [Full Text] [Related]

  • 5. [Perrault's syndrome: familial gonadal dysgenesis with sensorineural deafness].
    Yoshida K, Takashima M, Otsuka H, Okamura Y, Hirano T, Matsuzaki H.
    Nihon Sanka Fujinka Gakkai Zasshi; 1987 Dec 28; 39(12):2217-20. PubMed ID: 3429997
    [No Abstract] [Full Text] [Related]

  • 6. Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data.
    Simpson JL, Christakos AC, Horwith M, Silverman FS.
    Birth Defects Orig Artic Ser; 1971 May 28; 7(6):215-28. PubMed ID: 5173165
    [Abstract] [Full Text] [Related]

  • 7. Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?
    Linssen WH, Van den Bent MJ, Brunner HG, Poels PJ.
    Am J Med Genet; 1994 May 15; 51(1):81-2. PubMed ID: 8030674
    [Abstract] [Full Text] [Related]

  • 8. Left ovarian cyst and right streak ovary in a neonate with a normal karyotype. Report of a case of neonatal Slotnick-Goldfarb syndrome or recessive gonadal dysgenesis.
    Freud E, Zer M, Merlob P.
    J Reprod Med; 1994 Apr 15; 39(4):318-20. PubMed ID: 8040851
    [Abstract] [Full Text] [Related]

  • 9. Perrault syndrome with Marfanoid habitus in two siblings.
    Jacob JJ, Paul TV, Mathews SS, Thomas N.
    J Pediatr Adolesc Gynecol; 2007 Oct 15; 20(5):305-8. PubMed ID: 17868898
    [Abstract] [Full Text] [Related]

  • 10. Ovarian dysgenesis with balanced autosomal translocation.
    Tullu MS, Arora P, Parmar RC, Muranjan MN, Bharucha BA.
    J Postgrad Med; 2001 Oct 15; 47(2):113-5. PubMed ID: 11832602
    [Abstract] [Full Text] [Related]

  • 11. [Perrault's syndrome: two cases].
    Bellassoued M, Mnif M, Marouene H, Kammoun S, Ghorbel A, Mnif J, Ayadi F, Drira M, Kchaou MS, Abid M.
    Ann Endocrinol (Paris); 2001 Dec 15; 62(6):534-7. PubMed ID: 11845030
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
    Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC.
    Am J Hum Genet; 2010 Aug 13; 87(2):282-8. PubMed ID: 20673864
    [Abstract] [Full Text] [Related]

  • 13. Case report of two siblings with familial ovarian dysgenesis.
    Abaci A, Bober E, Unuvar T, Atas A, Buyukgebiz A.
    Minerva Pediatr; 2007 Feb 13; 59(1):57-9. PubMed ID: 17301727
    [Abstract] [Full Text] [Related]

  • 14. [Rudimentary ovary syndrome].
    Bösze P, Kovács Z, László J.
    Orv Hetil; 1990 Jan 14; 131(2):75-8. PubMed ID: 2296462
    [Abstract] [Full Text] [Related]

  • 15. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome.
    Cruz OL, Pedalini ME, Caropreso CA.
    Am J Otol; 1992 Jan 14; 13(1):82-3. PubMed ID: 1598993
    [Abstract] [Full Text] [Related]

  • 16. Ataxia-deafness-retardation syndrome in three sisters.
    Koletzko S, Koletzko B, Lamprecht A, Lenard HG.
    Neuropediatrics; 1987 Feb 14; 18(1):18-21. PubMed ID: 3470627
    [Abstract] [Full Text] [Related]

  • 17. Gonadal dysgenesis and Rokitansky syndrome. A case report.
    Güitrón-Cantú A, López-Vera E, Forsbach-Sánchez G, Leal-Garza CH, Cortés-Gutiérrez EI, González-Pico I.
    J Reprod Med; 1999 Oct 14; 44(10):891-3. PubMed ID: 10554753
    [Abstract] [Full Text] [Related]

  • 18. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun 14; 21(2):317-24. PubMed ID: 4014313
    [Abstract] [Full Text] [Related]

  • 19. Genotype and phenotype heterogeneity in perrault syndrome.
    Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y.
    J Pediatr Adolesc Gynecol; 2013 Feb 14; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 20. A rare cause for primary amenorrhea: Sporadic perrault syndrome.
    Ameen KH, Pinninti R.
    Indian J Endocrinol Metab; 2012 Sep 14; 16(5):843-5. PubMed ID: 23087880
    [Abstract] [Full Text] [Related]

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