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Journal Abstract Search

140 related items for PubMed ID: 11332978

  • 1. Fuhrmann syndrome associated with cortical dysplasia.
    Aynaci FM, Aynaci O, Ahmetoğlu A, Celep F.
    Genet Couns; 2001; 12(1):49-54. PubMed ID: 11332978
    [Abstract] [Full Text] [Related]

  • 2.
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  • 3. Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.
    Kumar D, Duggan MB, Mueller RF, Karbani G.
    Am J Med Genet; 1997 May 16; 70(2):107-13. PubMed ID: 9128926
    [Abstract] [Full Text] [Related]

  • 4. Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.
    Girisha KM, Vasudevan TG, Saadi AV, Shah H, Gopinath PM, Satyamoorthy K.
    Clin Dysmorphol; 2011 Oct 16; 20(4):205-209. PubMed ID: 21716096
    [No Abstract] [Full Text] [Related]

  • 5. Limb deficiency syndrome in half-sibs.
    Hecht JT, Scott CI.
    Clin Genet; 1981 Dec 16; 20(6):432-7. PubMed ID: 7337959
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  • 6. Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia.
    Moore LA, Moore CA, Smith JA, Weaver DD.
    Am J Med Genet; 1993 Nov 15; 47(7):1072-7. PubMed ID: 8291526
    [Abstract] [Full Text] [Related]

  • 7. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.
    Majewski F, Küster W, ter Haar B, Goecke T.
    Hum Genet; 1985 Nov 15; 70(2):136-47. PubMed ID: 4007857
    [Abstract] [Full Text] [Related]

  • 8. A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome.
    Poznanski AK, Kuhns LR, Lapides J, Stern AM.
    Birth Defects Orig Artic Ser; 1975 Nov 15; 11(4):127-35. PubMed ID: 1156681
    [No Abstract] [Full Text] [Related]

  • 9. Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.
    Cuevas-Sosa A, García-Segur F.
    J Bone Joint Surg Br; 1971 Feb 15; 53(1):101-5. PubMed ID: 4325377
    [No Abstract] [Full Text] [Related]

  • 10. The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.
    Al-Qattan MM, Shamseldin HE, Alkuraya FS.
    Gene; 2013 Mar 01; 516(1):168-70. PubMed ID: 23266637
    [Abstract] [Full Text] [Related]

  • 11.
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  • 12. Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.
    Drawbert JP, Stevens DB, Cadle RG, Hall BD.
    J Bone Joint Surg Am; 1985 Jul 01; 67(6):884-9. PubMed ID: 4019538
    [Abstract] [Full Text] [Related]

  • 13. Discordant fibular aplasia in twins.
    Paes BA.
    Am J Med Genet; 1995 Jan 16; 55(2):225-8. PubMed ID: 7717423
    [Abstract] [Full Text] [Related]

  • 14. Peripheral dysostosis: an autosomal recessive form.
    Goodman RM, Weinberg U, Hertz M, Rosenthal T, Hertz R.
    Birth Defects Orig Artic Ser; 1974 Jan 16; 10(12):137-46. PubMed ID: 4461057
    [No Abstract] [Full Text] [Related]

  • 15. Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.
    Donnenfeld AE, Schrager DS, Corson SL.
    Am J Med Genet; 1992 Nov 01; 44(4):482-4. PubMed ID: 1442892
    [Abstract] [Full Text] [Related]

  • 16. The hand-foot-genital syndrome: on the variable expression in affected males.
    Fryns JP, Vogels A, Decock P, van den Berghe H.
    Clin Genet; 1993 May 01; 43(5):232-4. PubMed ID: 8375102
    [Abstract] [Full Text] [Related]

  • 17. Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
    Richieri-Costa A, de Miranda E, Kamiya TY, Freire-Maia DV.
    Am J Med Genet; 1990 May 01; 36(1):1-6. PubMed ID: 2333896
    [Abstract] [Full Text] [Related]

  • 18. Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son.
    Krauss CM, Herman TE, Holmes LB.
    Am J Med Genet; 1985 Jan 01; 20(1):159-63. PubMed ID: 3970067
    [Abstract] [Full Text] [Related]

  • 19. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
    Matsushita M, Kitoh H, Mishima K, Nishida Y, Ishiguro N.
    Pediatr Radiol; 2014 Dec 01; 44(12):1617-9. PubMed ID: 24839142
    [Abstract] [Full Text] [Related]

  • 20. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.
    Kaplan BS, Bellah RD.
    Am J Med Genet; 1999 Dec 22; 87(5):426-9. PubMed ID: 10594882
    [Abstract] [Full Text] [Related]

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