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Journal Abstract Search

183 related items for PubMed ID: 16137031

  • 1. [Infrequent X chromosome abnormality and X-linked syndromic deafness].
    Wang YJ, Shi XL, Nie JW, Ni B, Yin ZC, Dai HP.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2004 Oct; 29(5):500-3. PubMed ID: 16137031
    [Abstract] [Full Text] [Related]

  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 3. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
    Karaman B, Wollnik B, Ermiş H, Yüksel-Apak M, Başaran S.
    Prenat Diagn; 2003 Apr; 23(4):336-9. PubMed ID: 12673642
    [Abstract] [Full Text] [Related]

  • 4. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B, Usinskiené R, Kostyk E, Rybałko A, Stasiewicz-Jarocka B, Krzykwa B, Pieńkowska-Grela B, Kucinskas V, Michalova K, Midro AT.
    Ann Genet; 2004 Apr; 47(1):11-28. PubMed ID: 15050871
    [Abstract] [Full Text] [Related]

  • 5. A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
    Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.
    Neurology; 2005 Jun 14; 64(11):1964-7. PubMed ID: 15955956
    [Abstract] [Full Text] [Related]

  • 6. A new, X-linked endothelial corneal dystrophy.
    Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR.
    Am J Ophthalmol; 2006 Mar 14; 141(3):478-487. PubMed ID: 16490493
    [Abstract] [Full Text] [Related]

  • 7. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
    Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.
    Pathol Biol (Paris); 2007 Feb 14; 55(1):29-36. PubMed ID: 16690229
    [Abstract] [Full Text] [Related]

  • 8. [Chromosome 15 satellite enlargement and hereditary deafness].
    Zhuang J, Hu X, Zhang B.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 1994 Feb 14; 29(4):225-7. PubMed ID: 7803123
    [Abstract] [Full Text] [Related]

  • 9. A novel X-linked disorder with developmental delay and autistic features.
    Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.
    Ann Neurol; 2012 Apr 14; 71(4):498-508. PubMed ID: 22213401
    [Abstract] [Full Text] [Related]

  • 10. Sex-linked deafness.
    Petersen MB, Wang Q, Willems PJ.
    Clin Genet; 2008 Jan 14; 73(1):14-23. PubMed ID: 18005182
    [Abstract] [Full Text] [Related]

  • 11. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep 14; 49(9):4096-104. PubMed ID: 18487380
    [Abstract] [Full Text] [Related]

  • 12. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
    Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.
    Eur J Med Genet; 2007 Sep 14; 50(6):421-31. PubMed ID: 17845869
    [Abstract] [Full Text] [Related]

  • 13. Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.
    Ars E, Tazón-Vega B, Ruiz P, Nogués C, Arnedo N, Rajmil O, Torra R.
    Eur J Hum Genet; 2005 Sep 14; 13(9):1040-6. PubMed ID: 15957001
    [Abstract] [Full Text] [Related]

  • 14. A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.
    Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.
    Pediatrics; 2011 Oct 14; 128(4):e1029-33. PubMed ID: 21930553
    [Abstract] [Full Text] [Related]

  • 15. Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.
    Melaragno MI, Ramos MA, Brunoni D.
    Ann Genet; 1998 Oct 14; 41(4):189-94. PubMed ID: 9881180
    [Abstract] [Full Text] [Related]

  • 16. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
    Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC.
    Eur J Med Genet; 2007 Oct 14; 50(6):399-410. PubMed ID: 17980689
    [Abstract] [Full Text] [Related]

  • 17. [Non-syndromic familial deafness. Review and genetic study].
    Guiral H, Flores JC, Risco J, Figuerola E, Pellicer F.
    Acta Otorrinolaringol Esp; 1996 Oct 14; 47(4):272-6. PubMed ID: 8962727
    [Abstract] [Full Text] [Related]

  • 18. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.
    Eur J Hum Genet; 2007 Jan 14; 15(1):29-34. PubMed ID: 17033686
    [Abstract] [Full Text] [Related]

  • 19. [Familial chromosome X structural aberrations - case report].
    Stembalska A, Barg E, Jakiel A, Sasiadek MM.
    Pediatr Endocrinol Diabetes Metab; 2010 Jan 14; 16(4):310-4. PubMed ID: 21447275
    [Abstract] [Full Text] [Related]

  • 20. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
    Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J.
    Eur J Med Genet; 2007 Jan 14; 50(3):216-23. PubMed ID: 17369115
    [Abstract] [Full Text] [Related]

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