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Journal Abstract Search

156 related items for PubMed ID: 9696728

  • 1. Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
    Toka HR, Bähring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, Wienker TF, Toka O, Schuster H, Luft FC.
    Ann Intern Med; 1998 Aug 01; 129(3):204-8. PubMed ID: 9696728
    [Abstract] [Full Text] [Related]

  • 2. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.
    Schuster H, Wienker TE, Bähring S, Bilginturan N, Toka HR, Neitzel H, Jeschke E, Toka O, Gilbert D, Lowe A, Ott J, Haller H, Luft FC.
    Nat Genet; 1996 May 01; 13(1):98-100. PubMed ID: 8673114
    [Abstract] [Full Text] [Related]

  • 3. Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly.
    Hattenbach LO, Toka HR, Toka O, Schuster H, Luft FC.
    Br J Ophthalmol; 1998 Dec 01; 82(12):1363-5. PubMed ID: 9930264
    [Abstract] [Full Text] [Related]

  • 4. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.
    Bähring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Mühl A, Wienker TF, Schuster H, Luft FC.
    Am J Hum Genet; 1997 Mar 01; 60(3):732-5. PubMed ID: 9042935
    [No Abstract] [Full Text] [Related]

  • 5. Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
    Oude Luttikhuis ME, Williams DK, Trembath RC.
    J Med Genet; 1996 Oct 01; 33(10):873-6. PubMed ID: 8933344
    [Abstract] [Full Text] [Related]

  • 6. Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.
    Bähring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, Fesüs G, Haefeli WE, Busjahn A, Aydin A, Neuenfeld Y, Mühl A, Toka HR, Gollasch M, Jordan J, Luft FC.
    Hypertension; 2004 Feb 01; 43(2):471-6. PubMed ID: 14707163
    [Abstract] [Full Text] [Related]

  • 7. Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.
    Sillence DO.
    J Med Genet; 1978 Jun 01; 15(3):208-11. PubMed ID: 671485
    [Abstract] [Full Text] [Related]

  • 8. Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.
    Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN, Bresnick GH, Giedion A, Lachman RS, Rimoin DL.
    Am J Med Genet; 1997 Dec 19; 73(3):279-85. PubMed ID: 9415685
    [Abstract] [Full Text] [Related]

  • 9. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.
    Yang X, She C, Guo J, Yu AC, Lu Y, Shi X, Feng G, He L.
    Am J Hum Genet; 2000 Mar 19; 66(3):892-903. PubMed ID: 10712204
    [Abstract] [Full Text] [Related]

  • 10. Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature.
    Mathews JL, Samuelson CO, Manis S.
    J Rheumatol; 1983 Oct 19; 10(5):819-22. PubMed ID: 6644710
    [Abstract] [Full Text] [Related]

  • 11. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.
    Tonoki H, Kishino T, Niikawa N.
    Am J Med Genet; 1990 May 19; 36(1):89-93. PubMed ID: 2333912
    [Abstract] [Full Text] [Related]

  • 12. Brachydactyly type C gene maps to human chromsome 12q24.
    Polymeropoulos MH, Ide SE, Magyari T, Francomano CA.
    Genomics; 1996 Nov 15; 38(1):45-50. PubMed ID: 8954778
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension.
    Schuster H.
    Nephrol Dial Transplant; 1998 Jun 15; 13(6):1337-40. PubMed ID: 9641152
    [No Abstract] [Full Text] [Related]

  • 14. Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.
    Schuster H, Wienker TF, Toka HR, Bähring S, Jeschke E, Toka O, Busjahn A, Hempel A, Tahlhammer C, Oelkers W, Kunze J, Bilginturan N, Haller H, Luft FC.
    Hypertension; 1996 Dec 15; 28(6):1085-92. PubMed ID: 8952601
    [Abstract] [Full Text] [Related]

  • 15. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
    Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML.
    Am J Hum Genet; 1999 Feb 15; 64(2):570-7. PubMed ID: 9973295
    [Abstract] [Full Text] [Related]

  • 16. Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
    Gong M, Zhang H, Schulz H, Lee YA, Sun K, Bähring S, Luft FC, Nürnberg P, Reis A, Rohde K, Ganten D, Hui R, Hübner N.
    Hum Mol Genet; 2003 Jun 01; 12(11):1273-7. PubMed ID: 12761042
    [Abstract] [Full Text] [Related]

  • 17. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
    Afzal AR, Jeffery S.
    Hum Mutat; 2003 Jul 01; 22(1):1-11. PubMed ID: 12815588
    [Abstract] [Full Text] [Related]

  • 18. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.
    Stern JK, Lubinsky MS, Durrie DS, Luckasen JR.
    Am J Med Genet; 1984 May 01; 18(1):67-77. PubMed ID: 6234802
    [Abstract] [Full Text] [Related]

  • 19. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
    Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA.
    Am J Med Genet A; 2013 Feb 01; 161A(2):237-43. PubMed ID: 23307567
    [Abstract] [Full Text] [Related]

  • 20. SED-brachydactyly and distinctive speech: report of two new cases.
    García-Cruz D, Zafra de la Rosa GF, Sánchez-Corona J, Nazará Z, López-Cardona MG, García-Ortiz JE, Corona-Rivera JR, Cantú JM.
    Genet Couns; 2007 Feb 01; 18(1):85-97. PubMed ID: 17515304
    [Abstract] [Full Text] [Related]

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