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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: ades lc. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Talkowski ME, et al. Among authors: ades lc. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS. Smits DJ, et al. Among authors: ades l. Hum Genet. 2023 Jul;142(7):949-964. doi: 10.1007/s00439-023-02569-7. Epub 2023 May 17. Hum Genet. 2023. PMID: 37198333 Free PMC article.
Smith-Fineman-Myers syndrome in two brothers.
Adès LC, Kerr B, Turner G, Wise G. Adès LC, et al. Am J Med Genet. 1991 Sep 15;40(4):467-70. doi: 10.1002/ajmg.1320400419. Am J Med Genet. 1991. PMID: 1684092
106 results