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Journal Abstract Search

819 related items for PubMed ID: 8395190

  • 1. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190
    [Abstract] [Full Text] [Related]

  • 2. Filippi syndrome: a new case with skeletal abnormalities.
    Héron D, Billette de Villemeur T, Munnich A, Lyonnet S.
    J Med Genet; 1995 Aug; 32(8):659-61. PubMed ID: 7473664
    [Abstract] [Full Text] [Related]

  • 3. A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.
    Lazier J, Chernos J, Lowry RB.
    Am J Med Genet A; 2014 Sep; 164A(9):2385-7. PubMed ID: 24924433
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
    Zerres K, Rietschel M, Rietschel E, Majewski F, Meinecke P.
    J Med Genet; 1992 Apr 19; 29(4):269-71. PubMed ID: 1316441
    [Abstract] [Full Text] [Related]

  • 6. Filippi syndrome: further clinical characterization.
    Battaglia A, Filippi T, Pusceddu S, Williams CA.
    Am J Med Genet A; 2008 Jul 15; 146A(14):1848-52. PubMed ID: 18553552
    [Abstract] [Full Text] [Related]

  • 7. Hunter-McAlpine syndrome: report of a third family.
    Adès LC, Morris LL, Simpson DA, Haan EA.
    Clin Dysmorphol; 1993 Apr 15; 2(2):123-30. PubMed ID: 8281273
    [Abstract] [Full Text] [Related]

  • 8. CKAP2L mutation confirms the diagnosis of Filippi syndrome.
    Capecchi G, Baldassarri M, Ferranti S, Guidoni E, Cioni M, Nürnberg P, Mencarelli MA, Renieri A, Grosso S.
    Clin Genet; 2018 May 15; 93(5):1109-1110. PubMed ID: 29473684
    [No Abstract] [Full Text] [Related]

  • 9. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
    Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A.
    Am J Med Genet A; 2011 Apr 15; 155A(4):880-4. PubMed ID: 21416592
    [Abstract] [Full Text] [Related]

  • 10. An apparently new mental retardation syndrome in three elderly sisters.
    Viljoen DL, Kallis J, Voges S, Marais AS, van Vuuren I.
    Clin Genet; 1991 Jul 15; 40(1):6-11. PubMed ID: 1884519
    [Abstract] [Full Text] [Related]

  • 11. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
    de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM.
    Eur J Hum Genet; 2016 Aug 15; 24(9):1363-6. PubMed ID: 26956253
    [Abstract] [Full Text] [Related]

  • 12. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.
    Lin HJ, Kakkis ED, Eteson DJ, Lachman RS.
    Am J Med Genet; 1993 Sep 15; 47(4):534-9. PubMed ID: 8256819
    [Abstract] [Full Text] [Related]

  • 13. Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
    Karakaya T, Bilgic AE, Eris D, Baser B, Mermer S, Yildiz O.
    Am J Med Genet A; 2021 Jul 15; 185(7):2198-2203. PubMed ID: 33913579
    [Abstract] [Full Text] [Related]

  • 14. Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
    Martínez-Frías ML, Martín M, Pardo M, Fernandez de las Heras F, Frías JL.
    Am J Med Genet; 1995 Jan 16; 55(2):213-6. PubMed ID: 7717420
    [Abstract] [Full Text] [Related]

  • 15. Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
    Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C.
    Ophthalmic Genet; 1999 Jun 16; 20(2):127-31. PubMed ID: 10420199
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC, Thomas PS, Hutchinson J.
    Am J Med Genet; 1986 May 16; 24(1):33-9. PubMed ID: 3706411
    [Abstract] [Full Text] [Related]

  • 18. Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.
    Sabir A, Walker JK, Hart R.
    Clin Dysmorphol; 2019 Oct 16; 28(4):224-226. PubMed ID: 30921095
    [No Abstract] [Full Text] [Related]

  • 19. Distal aphalangia, microcephaly and mental retardation.
    Wickramasinghe VP, Lamabadusuriya SP, Athapattu N.
    Ceylon Med J; 2005 Mar 16; 50(1):33-4. PubMed ID: 15881564
    [No Abstract] [Full Text] [Related]

  • 20. Kaufman oculocerebrofacial syndrome in a girl of 15 years.
    Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F.
    Am J Med Genet; 1995 Jul 31; 58(1):21-3. PubMed ID: 7573151
    [Abstract] [Full Text] [Related]

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