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Journal Abstract Search

80 related items for PubMed ID: 8030674

  • 1. 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]

  • 2. The Perrault syndrome: clinical report and review.
    Nishi Y, Hamamoto K, Kajiyama M, Kawamura I.
    Am J Med Genet; 1988 Nov 15; 31(3):623-9. PubMed ID: 3067578
    [Abstract] [Full Text] [Related]

  • 3. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979 Nov 15; 4(3):239-46. PubMed ID: 517579
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Neurologic anomalies of Perrault syndrome.
    Gottschalk ME, Coker SB, Fox LA.
    Am J Med Genet; 1996 Nov 11; 65(4):274-6. PubMed ID: 8923934
    [Abstract] [Full Text] [Related]

  • 6. Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
    Zlotogora J, Fuks A, Borochowitz Z, Tal Y.
    Am J Med Genet; 1993 Jun 01; 46(4):453-4. PubMed ID: 8357021
    [Abstract] [Full Text] [Related]

  • 7. Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?
    Guazzi G, Palmeri S, Malandrini A, Ciacci G, Di Perri R, Mancini G, Messina C, Salvadori C.
    Am J Med Genet; 1994 Mar 01; 50(1):79-83. PubMed ID: 8160757
    [Abstract] [Full Text] [Related]

  • 8. Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.
    Mégarbané A, Hersh JH, Chouery E, Fabre M.
    Am J Med Genet; 2002 May 15; 109(4):323-7. PubMed ID: 11992488
    [Abstract] [Full Text] [Related]

  • 9. Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.
    Sabatelli M, Mignogna T, Lippi G, Servidei S, Zollino M, Padua L, Lo Monaco M, De Armas L, Mereu ML, Tonali P.
    Am J Med Genet; 1998 Jan 23; 75(3):309-13. PubMed ID: 9475604
    [Abstract] [Full Text] [Related]

  • 10. Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.
    Ong KR, Visram S, McKaig S, Brueton LA.
    Eur J Med Genet; 2006 Jan 23; 49(2):187-93. PubMed ID: 16530715
    [Abstract] [Full Text] [Related]

  • 11. Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia.
    Hojo K, Kawamata T, Tanaka C, Maeda K.
    Neurosci Lett; 2004 Sep 09; 367(3):340-3. PubMed ID: 15337262
    [Abstract] [Full Text] [Related]

  • 12. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.
    Gripp KW, Nicholson L, Scott CI.
    Am J Med Genet; 1996 Feb 02; 61(4):382-6. PubMed ID: 8834052
    [Abstract] [Full Text] [Related]

  • 13. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
    Moog U, Bleeker-Wagemakers EM, Crobach P, Vles JS, Schrander-Stumpel CT.
    Am J Med Genet; 1998 Jul 07; 78(3):263-6. PubMed ID: 9677063
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 26(1):e25-7. PubMed ID: 23332201
    [Abstract] [Full Text] [Related]

  • 15. A rare cause for primary amenorrhea: Sporadic perrault syndrome.
    Ameen KH, Pinninti R.
    Indian J Endocrinol Metab; 2012 Sep 07; 16(5):843-5. PubMed ID: 23087880
    [Abstract] [Full Text] [Related]

  • 16. 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 07; 39(4):318-20. PubMed ID: 8040851
    [Abstract] [Full Text] [Related]

  • 17. Perrault syndrome: evidence for progressive nervous system involvement.
    Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM.
    Am J Med Genet A; 2004 Jul 30; 128A(3):246-9. PubMed ID: 15216544
    [Abstract] [Full Text] [Related]

  • 18. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
    Priest JM, Fischbeck KH, Nouri N, Keats BJ.
    Genomics; 1995 Sep 20; 29(2):409-12. PubMed ID: 8666389
    [Abstract] [Full Text] [Related]

  • 19. A profile of childhood neuropathies at a university hospital in Oman.
    Koul R, Chacko A, Javed H, Al-Hinai K, Zachariah M, Bulusu S, Rao TV.
    Saudi Med J; 2002 Apr 20; 23(4):450-6. PubMed ID: 11953774
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
    Spring PJ, Kok C, Nicholson GA, Ing AJ, Spies JM, Bassett ML, Cameron J, Kerlin P, Bowler S, Tuck R, Pollard JD.
    Brain; 2005 Dec 20; 128(Pt 12):2797-810. PubMed ID: 16311270
    [Abstract] [Full Text] [Related]

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