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Journal Abstract Search

223 related items for PubMed ID: 9929981

  • 1. Autosomal dominant onychodystrophy and congenital sensorineural deafness.
    Kondoh T, Tsuru A, Matsumoto T, Matsuzaka T, Tsuji Y.
    J Hum Genet; 1999; 44(1):60-2. PubMed ID: 9929981
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  • 2. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome.
    White SM, Fahey M.
    Am J Med Genet A; 2011 Oct; 155A(10):2512-5. PubMed ID: 21998865
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  • 3. Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome.
    Curry CJ, Hall BD.
    Birth Defects Orig Artic Ser; 1979 Oct; 15(5B):253-63. PubMed ID: 526581
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  • 4. 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; 18(1):67-77. PubMed ID: 6234802
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  • 5. A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family.
    Tsakalakos N, Jordaan FH, Taljaard JJ, Hough SF.
    Arch Dermatol; 1986 Sep; 122(9):1047-53. PubMed ID: 3740884
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  • 6. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.
    Zabawski EJ, Cohen JB.
    Dermatol Online J; 1999 May; 5(1):3. PubMed ID: 10673446
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  • 7. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
    Sommer A, Young-Wee T, Frye T.
    Am J Med Genet; 1983 May; 15(1):71-7. PubMed ID: 6859126
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  • 10. Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.
    Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J.
    Ophthalmic Genet; 2000 Dec; 21(4):217-25. PubMed ID: 11135492
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  • 14. Familial microtia with meatal atresia and conductive deafness in five generations.
    Gupta A, Patton MA.
    Am J Med Genet; 1995 Nov 06; 59(2):238-41. PubMed ID: 8588593
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  • 15. Autosomal dominant Alport's syndrome: study of a large Tunisian family.
    Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Ben Hmida M, Gubler MC, Ayadi H, Hachicha J.
    Saudi J Kidney Dis Transpl; 2006 Sep 06; 17(3):320-5. PubMed ID: 16970251
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  • 16. Polydactyly with ectodermal defect, osteopenia, and mental delay.
    Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J.
    J Child Neurol; 2008 Jun 06; 23(6):683-9. PubMed ID: 18182642
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  • 17. Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.
    Sobrido MJ, Fernández JM, Fontoira E, Pérez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martínez M, Navarro C.
    Brain; 2005 Jul 06; 128(Pt 7):1716-27. PubMed ID: 15857933
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