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Journal Abstract Search

107 related items for PubMed ID: 10051172

  • 21. Identification of the gene for oral-facial-digital type I syndrome.
    Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B.
    Am J Hum Genet; 2001 Mar; 68(3):569-76. PubMed ID: 11179005
    [Abstract] [Full Text] [Related]

  • 22. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
    Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I.
    J Med Genet; 2002 Apr; 39(4):292-6. PubMed ID: 11950863
    [No Abstract] [Full Text] [Related]

  • 23. Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
    Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E.
    J Med Genet; 1992 Nov; 29(11):827-30. PubMed ID: 1453437
    [Abstract] [Full Text] [Related]

  • 24. [Oro-facial-digital syndrome type I: phenotypic variable expression].
    Boldrini MP, Giovo ME, Bogado C.
    Arch Argent Pediatr; 2014 Dec; 112(6):e242-6. PubMed ID: 25362921
    [Abstract] [Full Text] [Related]

  • 25. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
    Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M.
    Eur J Hum Genet; 2000 Feb; 8(2):125-9. PubMed ID: 10757644
    [Abstract] [Full Text] [Related]

  • 26. Oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease.
    Scolari F, Valzorio B, Carli O, Vizzardi V, Grazioli L, Bondioni MP, Maiorca R.
    Contrib Nephrol; 1997 Feb; 122():58-60. PubMed ID: 9399040
    [No Abstract] [Full Text] [Related]

  • 27. Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.
    Nevin NC, Silvestri J, Kernohan DC, Hutchinson WM.
    Am J Med Genet; 1994 Jul 01; 51(3):228-31. PubMed ID: 8074150
    [Abstract] [Full Text] [Related]

  • 28. Refined gene localization for the Miles-Carpenter syndrome (MCS).
    Tackels D, Schwartz CE, Carpenter NJ, Miles JH.
    Am J Med Genet; 1999 Jul 30; 85(3):221-2. PubMed ID: 10398232
    [No Abstract] [Full Text] [Related]

  • 29. [How are the Blaschko lines arranged on the scalp?].
    Happle R, Fuhrmann-Rieger A, Fuhrmann W.
    Hautarzt; 1984 Jul 30; 35(7):366-9. PubMed ID: 6469640
    [Abstract] [Full Text] [Related]

  • 30. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
    Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM.
    Eur J Hum Genet; 2001 Oct 30; 9(10):753-7. PubMed ID: 11781686
    [Abstract] [Full Text] [Related]

  • 31. Orofaciodigital syndrome I: a case report.
    Gunbay S, Zeytinoglu B, Ozkinay F, Ozkinay C, Oncag A.
    J Clin Pediatr Dent; 1996 Oct 30; 20(4):329-32. PubMed ID: 9151628
    [Abstract] [Full Text] [Related]

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  • 34. Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
    Faily S, Perveen R, Chandler K, Clayton-Smith J.
    Cleft Palate Craniofac J; 2020 May 30; 57(5):606-615. PubMed ID: 32064904
    [Abstract] [Full Text] [Related]

  • 35. Orofaciodigital syndrome type IV: report of a patient.
    Nevin NC, Mapee AC, Mudenda V, Thomas PS.
    Am J Med Genet; 1992 Jul 15; 43(5):902-4. PubMed ID: 1642284
    [No Abstract] [Full Text] [Related]

  • 36. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
    Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M.
    Arthritis Rheum; 2000 Apr 15; 43(4):925-9. PubMed ID: 10765940
    [Abstract] [Full Text] [Related]

  • 37. Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance.
    Jamieson R, Collins F.
    Am J Med Genet; 1993 Aug 15; 47(2):304-6. PubMed ID: 8213926
    [No Abstract] [Full Text] [Related]

  • 38. An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
    Iijima T, Hayami N, Takaichi K, Morisada N, Nozu K, Iijima K, Sawa N, Hoshino J, Ubara Y.
    Intern Med; 2019 Oct 15; 58(20):2989-2992. PubMed ID: 31243241
    [Abstract] [Full Text] [Related]

  • 39. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
    Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L.
    Am J Med Genet A; 2009 Aug 15; 149A(8):1846-9. PubMed ID: 19610098
    [No Abstract] [Full Text] [Related]

  • 40. The hypertensive young lady with renal cysts--it is not always polycystic kidney disease.
    McLaughlin K, Neilly JB, Fox JG, Boulton-Jones JM.
    Nephrol Dial Transplant; 2000 Aug 15; 15(8):1245-7. PubMed ID: 10910455
    [No Abstract] [Full Text] [Related]

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