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Journal Abstract Search

225 related items for PubMed ID: 15658616

  • 1. Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.
    Stoll C, Pauly F, Steib JP.
    Genet Couns; 2004; 15(4):411-20. PubMed ID: 15658616
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  • 2. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.
    Wulfsberg EA, Curtis J, Jayne CH.
    Am J Med Genet; 1992 Jul 15; 43(5):823-8. PubMed ID: 1642270
    [Abstract] [Full Text] [Related]

  • 3. Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
    Toriello HV, Higgins JV, Miller T.
    Am J Med Genet; 1993 Oct 01; 47(5):797-9. PubMed ID: 8267015
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  • 4. [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].
    Sanchez E, Munier F, Evéquoz B, Marcoz JP, Balmer A.
    Klin Monbl Augenheilkd; 1997 May 01; 210(5):329-31. PubMed ID: 9324546
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  • 5. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
    Schinzel A, Giedion A.
    Am J Med Genet; 1978 May 01; 1(4):361-75. PubMed ID: 665725
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  • 6. Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy.
    Stoll C, Finck S, Janser B, Printz M, Lutz P.
    Genet Couns; 1992 May 01; 3(1):41-7. PubMed ID: 1590980
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  • 8. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E, Goetsch W.
    Minerva Pediatr; 1993 Mar 01; 45(3):117-21. PubMed ID: 8341225
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  • 9. Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature.
    Krajewska-Walasek M.
    Genet Couns; 1994 Mar 01; 5(4):345-55. PubMed ID: 7888136
    [Abstract] [Full Text] [Related]

  • 10. New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
    Sánchez JM, Kaminker CP.
    Am J Med Genet; 1986 Nov 01; 25(3):507-11. PubMed ID: 3789012
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  • 11. Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).
    Horikoshi T, Kikuchi A, Tamaru S, Ono K, Kita M, Takagi K, Miyashita S, Kawame H, Shimokawa O, Harada N.
    J Obstet Gynaecol Res; 2010 Jun 01; 36(3):671-5. PubMed ID: 20598055
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  • 14. Chondrodysplasia punctata: another possible X-linked recessive case.
    Bennett CP, Berry AC, Maxwell DJ, Seller MJ.
    Am J Med Genet; 1992 Dec 01; 44(6):795-9. PubMed ID: 1481849
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  • 15. Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth.
    Lenti C, Paganoni P, Sangermani R.
    Ital J Neurol Sci; 1991 Oct 01; 12(5):469-73. PubMed ID: 1955304
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  • 16. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.
    Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, León L, Pineda G, Castroviejo IP, Silva R, Mija L, Perez-Gosiengfiao K, Machado-Salas J, Delgado-Escueta AV.
    Brain; 2006 May 01; 129(Pt 5):1269-80. PubMed ID: 16520331
    [Abstract] [Full Text] [Related]

  • 17. Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?
    Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP.
    Clin Neurophysiol; 2006 Apr 01; 117(4):803-9. PubMed ID: 16495142
    [Abstract] [Full Text] [Related]

  • 18. [X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
    Tronnier M, Froster-Iskenius UG, Schmeller W, Happle R, Wolff HH.
    Hautarzt; 1992 Apr 01; 43(4):221-5. PubMed ID: 1597371
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  • 19. De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
    Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J.
    Genet Couns; 2004 Apr 01; 15(3):341-6. PubMed ID: 15517827
    [Abstract] [Full Text] [Related]

  • 20. Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.
    Ogata T, Goodfellow P, Petit C, Maroteaux P, Matsuo N.
    Am J Med Genet; 1993 Jan 01; 45(1):101-4. PubMed ID: 8418639
    [Abstract] [Full Text] [Related]

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