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Pubmed for Handhelds

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Journal Abstract Search

136 related items for PubMed ID: 34272929

  • 1. Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
    Wade EM, Jenkins ZA, Morgan T, Gimenez G, Gibson H, Peng H, Sanchez Russo R, Skraban CM, Bedoukian E, Robertson SP.
    Am J Med Genet A; 2021 Dec; 185(12):3675-3682. PubMed ID: 34272929
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  • 4. Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
    Dissanayake R, Senanayake MP, Fernando J, Robertson SP, Dissanayake VHW, Sirisena ND.
    Am J Med Genet A; 2021 Apr; 185(4):1317-1320. PubMed ID: 33372358
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  • 6. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
    Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.
    Am J Hum Genet; 2016 Aug 04; 99(2):392-406. PubMed ID: 27426733
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  • 7. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
    Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.
    J Med Genet; 2015 Jun 04; 52(6):405-12. PubMed ID: 25755106
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  • 9. Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
    Thieu T, Milman T, Bhatti TR, Eagle RC.
    J Pediatr Ophthalmol Strabismus; 2020 Jan 24; 57():e8-e11. PubMed ID: 31978233
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  • 11. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
    Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.
    Am J Med Genet A; 2006 Aug 15; 140(16):1726-36. PubMed ID: 16835913
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  • 14. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
    Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M.
    Am J Med Genet A; 2017 Jan 15; 173(1):169-176. PubMed ID: 27739212
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  • 18. Fetal phenotypes in otopalatodigital spectrum disorders.
    Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.
    Clin Genet; 2016 Mar 15; 89(3):371-7. PubMed ID: 26404489
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  • 20. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
    Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.
    J Hum Genet; 2016 Aug 15; 61(8):693-9. PubMed ID: 27193221
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