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Journal Abstract Search

122 related items for PubMed ID: 9781029

  • 21. Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.
    Ausseil J, Loredo-Osti JC, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen OP, Hudson TJ, Fujiwara TM, Morgan K, Pshezhetsky AV.
    J Med Genet; 2004 Dec; 41(12):941-5. PubMed ID: 15591281
    [Abstract] [Full Text] [Related]

  • 22. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
    Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):629-33. PubMed ID: 10711674
    [Abstract] [Full Text] [Related]

  • 23. [Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
    Zhu HY, Li J, Zhu RF, Wu X, Duan HL, Yang Y, Zhang Y, Hu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):421-3. PubMed ID: 18683141
    [Abstract] [Full Text] [Related]

  • 24. Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32.
    Kukekova AV, Nelson J, Kuchtey RW, Lowe JK, Johnson JL, Ostrander EA, Aguirre GD, Acland GM.
    Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1210-5. PubMed ID: 16505060
    [Abstract] [Full Text] [Related]

  • 25. [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
    Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, Sheng GY, Zhou JH, Gao TZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):15-8. PubMed ID: 12579492
    [Abstract] [Full Text] [Related]

  • 26. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
    Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC.
    Nat Genet; 1996 Jan; 12(1):103-5. PubMed ID: 8528240
    [No Abstract] [Full Text] [Related]

  • 27. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
    Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B.
    Nat Genet; 2000 Dec; 26(4):480-3. PubMed ID: 11101850
    [Abstract] [Full Text] [Related]

  • 28. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
    Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V.
    Hum Genet; 2002 Apr; 110(4):366-70. PubMed ID: 11941487
    [Abstract] [Full Text] [Related]

  • 29. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
    Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.
    Neurology; 2008 Jul 22; 71(4):248-52. PubMed ID: 18463364
    [Abstract] [Full Text] [Related]

  • 30. Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment.
    Knight HM, Maclean A, Irfan M, Naeem F, Cass S, Pickard BS, Muir WJ, Blackwood DH, Ayub M.
    Eur J Hum Genet; 2008 Jun 22; 16(6):750-8. PubMed ID: 18322454
    [Abstract] [Full Text] [Related]

  • 31. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
    Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W.
    J Med Genet; 2009 Jan 22; 46(1):14-20. PubMed ID: 18805827
    [Abstract] [Full Text] [Related]

  • 32. [Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected].
    Díaz-Mares L, González-del Angel A, Gutiérrez-Castrellón P, Takenaga-Mesquida R, Carnevale A.
    Bol Med Hosp Infant Mex; 1992 Oct 22; 49(10):678-82. PubMed ID: 1449627
    [Abstract] [Full Text] [Related]

  • 33. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
    Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M.
    Isr Med Assoc J; 2001 Aug 22; 3(8):559-62. PubMed ID: 11519376
    [Abstract] [Full Text] [Related]

  • 34. [Progressive pseudorheumatoid arthropathy in childhood (late spondylo-epiphysial dysplasia with progressive arthropathy). Description of a case].
    Gabrielli O, Carloni I, Ravaglia P, Bonifazi V, Coppa GV, Giorgi PL.
    Pathologica; 1989 Aug 22; 81(1073):301-3. PubMed ID: 2641542
    [Abstract] [Full Text] [Related]

  • 35. A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
    Tariq M, Chishti MS, Ali G, Ahmad W.
    Ann Hum Genet; 2008 Jan 22; 72(Pt 1):19-25. PubMed ID: 18184143
    [Abstract] [Full Text] [Related]

  • 36. Progressive pseudorheumatoid dysplasia: three cases in one family.
    Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N.
    Joint Bone Spine; 2007 Jul 22; 74(4):393-5. PubMed ID: 17596985
    [Abstract] [Full Text] [Related]

  • 37. Molecular characterization of a type II collagen defect in spondyloepiphyseal dysplasia.
    Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D.
    Trans Assoc Am Physicians; 1989 Jul 22; 102():20-9. PubMed ID: 2638526
    [No Abstract] [Full Text] [Related]

  • 38. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 22; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

  • 39. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
    Sweetman WA, Rash B, Sykes B, Beighton P, Hecht JT, Zabel B, Thomas JT, Boot-Handford R, Grant ME, Wallis GA.
    Am J Hum Genet; 1992 Oct 22; 51(4):841-9. PubMed ID: 1329505
    [Abstract] [Full Text] [Related]

  • 40. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
    Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y.
    Am J Hum Genet; 1998 Dec 22; 63(6):1659-62. PubMed ID: 9837818
    [Abstract] [Full Text] [Related]

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