These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

265 related articles for article (PubMed ID: 1642270)

  • 1. 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; 43(5):823-8. PubMed ID: 1642270
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E; Goetsch W
    Minerva Pediatr; 1993 Mar; 45(3):117-21. PubMed ID: 8341225
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Chondrodysplasia punctata with X;Y translocation.
    Agematsu K; Koike K; Morosawa H; Nakahori Y; Nakagome Y; Akabane T
    Hum Genet; 1988 Sep; 80(1):105-7. PubMed ID: 3417299
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 36(3):671-5. PubMed ID: 20598055
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
    Bick D; Curry CJ; McGill JR; Schorderet DF; Bux RC; Moore CM
    Am J Med Genet; 1989 May; 33(1):100-7. PubMed ID: 2750777
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
    Ballabio A; Zollo M; Carrozzo R; Caiulo A; Zuffardi O; Cascioli CF; Viggiano D; Strisciuglio P
    Am J Med Genet; 1991 Nov; 41(2):184-7. PubMed ID: 1785631
    [TBL] [Abstract][Full Text] [Related]  

  • 8. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
    Ballabio A; Parenti G; Carrozzo R; Coppa G; Felici L; Migliori V; Silengo M; Franceschini P; Andria G
    Clin Genet; 1988 Jul; 34(1):31-7. PubMed ID: 3165728
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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; 210(5):329-31. PubMed ID: 9324546
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.
    Curry CJ; Magenis RE; Brown M; Lanman JT; Tsai J; O'Lague P; Goodfellow P; Mohandas T; Bergner EA; Shapiro LJ
    N Engl J Med; 1984 Oct; 311(16):1010-5. PubMed ID: 6482910
    [TBL] [Abstract][Full Text] [Related]  

  • 11. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).
    Sutphen R; Amar MJ; Kousseff BG; Toomey KE
    Am J Med Genet; 1995 Jul; 57(3):489-92. PubMed ID: 7677157
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.
    Van Maldergem L; Espeel M; Roels F; Petit C; Dacremont G; Wanders RJ; Verloes A; Gillerot Y
    Hum Genet; 1991 Oct; 87(6):661-4. PubMed ID: 1937466
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.
    Klink A; Meindl A; Hellebrand H; Rappold GA
    Hum Genet; 1994 Apr; 93(4):463-6. PubMed ID: 8168818
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chondrodysplasia punctata: another possible X-linked recessive case.
    Bennett CP; Berry AC; Maxwell DJ; Seller MJ
    Am J Med Genet; 1992 Dec; 44(6):795-9. PubMed ID: 1481849
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 45(1):101-4. PubMed ID: 8418639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis).
    Feldmeyer L; Mevorah B; Grzeschik KH; Huber M; Hohl D
    Br J Dermatol; 2006 Apr; 154(4):766-9. PubMed ID: 16536827
    [No Abstract]   [Full Text] [Related]  

  • 17. Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
    Hou JW
    Chang Gung Med J; 2005 Sep; 28(9):643-50. PubMed ID: 16323556
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Refinement of the locus for X-linked recessive chondrodysplasia punctata.
    Muroya K; Ogata T; Rappold G; Klink A; Nakahori Y; Fukushima Y; Aizu K; Matsuo N
    Hum Genet; 1995 May; 95(5):577-80. PubMed ID: 7759082
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.
    Weil D; Portnoï MF; Levilliers J; Wang I; Mathieu M; Taillemite JL; Meier M; Boudailliez B; Petit C
    Hum Mol Genet; 1993 Nov; 2(11):1853-6. PubMed ID: 8281147
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.
    Nishimura S; Masuda H; Matsumoto T; Sakura N; Matsumoto T; Ueda K
    Am J Med Genet; 1991 Sep; 40(3):260-3. PubMed ID: 1951426
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.