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Journal Abstract Search

140 related items for PubMed ID: 19085972

  • 1. Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
    Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C.
    Prenat Diagn; 2009 Feb; 29(2):172-4. PubMed ID: 19085972
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  • 2. [Larsen-syndrome: final diagnosis following multiple surgical interventions].
    Kisfali P, Komlósi K, Hadzsiev K, Melegh B.
    Orv Hetil; 2013 Jan 27; 154(4):143-6. PubMed ID: 23335724
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  • 4. Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy.
    Ansart-Franquet H, Houfflin-Debarge V, Ghoumid J, Pasz N, Devisme L, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M.
    Prenat Diagn; 2009 Feb 27; 29(2):187-9. PubMed ID: 19180573
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  • 5. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
    Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.
    Am J Med Genet A; 2005 Jul 15; 136(2):190-3. PubMed ID: 15940695
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  • 8. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
    Shen JJ, Brown CA, Lupski JR, Potocki L.
    J Med Genet; 2003 Nov 15; 40(11):854-7. PubMed ID: 14627682
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  • 12. Larsen syndrome.
    Gupta N, Kabra M.
    Indian Pediatr; 2008 Sep 15; 45(9):783-4. PubMed ID: 18820390
    [No Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
    Papamichail M, Manolakos E, Papoulidis I, Siomou E, Eleftheriades A, Marinakis I, Tzanakis K, Sartsidis A, Vlahos NF, Eleftheriades M.
    Eur J Med Genet; 2021 Nov 15; 64(11):104318. PubMed ID: 34450357
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  • 14. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
    Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H.
    Proc Natl Acad Sci U S A; 2010 Jan 05; 107(1):258-63. PubMed ID: 20018682
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  • 16. Mutations in FLNB cause boomerang dysplasia.
    Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP.
    J Med Genet; 2005 Jul 05; 42(7):e43. PubMed ID: 15994868
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  • 17. Prenatal clinical characteristics of Casamassima-Morton-Nance syndrome.
    Aguinaga M, Yllescas E, Canseco M, Machuca A, Acevedo S, Mayén Molina DG.
    Prenat Diagn; 2009 Feb 05; 29(2):175-6. PubMed ID: 19090487
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  • 18. A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
    Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L.
    Prenat Diagn; 2006 Dec 05; 26(12):1151-5. PubMed ID: 17009344
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  • 19. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
    Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI.
    Am J Med Genet A; 2007 May 15; 143A(10):1120-5. PubMed ID: 17431908
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