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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

248 related items for PubMed ID: 33925166

  • 21. MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
    Rocchetti L, Evangelista E, De Falco L, Savarese G, Savarese P, Ruggiero R, D'Amore L, Sensi A, Fico A.
    Genes (Basel); 2021 Aug 27; 12(9):. PubMed ID: 34573309
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  • 23. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
    Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I.
    Am J Med Genet A; 2017 Mar 27; 173(3):611-617. PubMed ID: 28139025
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  • 24. FG syndrome: the FGS2 locus revisited.
    Perche O, Laudier B, Menuet A, Odent S, Laumonnier F, Briault S.
    Am J Med Genet A; 2012 Jun 27; 158A(6):1489-92. PubMed ID: 22528511
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  • 27. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
    Yang JH, Liu ZG, Liu CL, Zhang MR, Jia YL, Zhai QX, He MF, He N, Qiao JD.
    Seizure; 2024 Mar 27; 116():30-36. PubMed ID: 36894399
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  • 29. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
    Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L.
    J Med Genet; 2020 Jul 27; 57(7):466-474. PubMed ID: 32277047
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  • 32. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
    Genome Med; 2019 Feb 28; 11(1):12. PubMed ID: 30819258
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  • 37. MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
    Pillai NR, Miller D, Bronken G, Salunke AK, Aggarwal A.
    Am J Med Genet A; 2022 Jul 28; 188(7):2231-2236. PubMed ID: 35385210
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  • 38. Eye and ocular adnexa manifestations of MED12-related disorders.
    Shah A, Bapna M, Al-Saif H, Li R, Couser NL.
    Ophthalmic Genet; 2022 Feb 28; 43(1):126-129. PubMed ID: 34670449
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  • 39. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
    Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.
    Clin Genet; 2017 Feb 28; 91(2):339-343. PubMed ID: 27452416
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