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Journal Abstract Search

166 related items for PubMed ID: 33913579

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [No Abstract] [Full Text] [Related]

  • 3. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
    Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.
    Am J Hum Genet; 2014 Nov 06; 95(5):622-32. PubMed ID: 25439729
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  • 4. Novel variants identified in CKAP2L in two siblings with Filippi syndrome.
    Patrick RJ, Weimer J, Davis-Keppen L, Landsverk ML.
    Cold Spring Harb Mol Case Stud; 2022 Feb 06; 8(2):. PubMed ID: 34921061
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 11. 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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  • 12. Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome.
    Alkhunaizi E, Braverman N.
    Am J Med Genet A; 2019 Jan 16; 179(1):130-133. PubMed ID: 30569551
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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. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
    Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P.
    Am J Med Genet A; 2018 Aug 16; 176(8):1768-1772. PubMed ID: 30055029
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