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Journal Abstract Search

349 related items for PubMed ID: 7717418

  • 1. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
    Toriello HV, Higgins JV.
    Am J Med Genet; 1995 Jan 16; 55(2):200-4. PubMed ID: 7717418
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  • 2. Filippi syndrome: report of three additional cases.
    Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.
    Am J Med Genet; 1999 Nov 19; 87(2):128-33. PubMed ID: 10533026
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  • 3. Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.
    Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D.
    Genet Couns; 2002 Nov 19; 13(3):343-52. PubMed ID: 12416644
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  • 4. An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?
    Orrico A, Hayek G.
    Clin Genet; 1997 Sep 19; 52(3):177-9. PubMed ID: 9377808
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  • 5. The craniodigital syndrome of Scott: report of a second family.
    Lorenz P, Hinkel GK, Hoffmann C, Rupprecht E.
    Am J Med Genet; 1990 Oct 19; 37(2):224-6. PubMed ID: 2174209
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  • 6. [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].
    Bibas Bonet H, Fontenla M, Fauze R, G de Pinat I.
    Rev Neurol; 1990 Oct 19; 32(8):746-50. PubMed ID: 11391511
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  • 7. A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.
    Weaver DD, Williams CP.
    Birth Defects Orig Artic Ser; 1977 Oct 19; 13(3B):69-84. PubMed ID: 890101
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  • 14. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
    Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M.
    Genet Couns; 2007 Oct 19; 18(2):247-50. PubMed ID: 17710878
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  • 15. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
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  • 17. Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
    Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G.
    Am J Med Genet; 1994 Sep 01; 52(3):302-7. PubMed ID: 7810561
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  • 18. Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
    Schorderet DF, Addor MC, Maeder P, Roulet E, Junier L.
    Genet Couns; 2002 Sep 01; 13(4):441-7. PubMed ID: 12558115
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  • 20. Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review.
    Bastaki L, El-Nabi MM, Azab AS, Gouda SA, Al-Wadaani AM, Naguib KK.
    East Mediterr Health J; 2007 Sep 01; 13(4):975-9. PubMed ID: 17955782
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