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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
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  • 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
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  • 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
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  • 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; 93(5):1109-1110. PubMed ID: 29473684
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  • 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; 155A(4):880-4. PubMed ID: 21416592
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  • 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; 24(9):1363-6. PubMed ID: 26956253
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  • 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; 185(7):2198-2203. PubMed ID: 33913579
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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