| 1 | IDSSAH, IQSEC1, IQSEC2, IQSEC3, MRX1
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| Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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| Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE.
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| Am J Hum Genet 105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10.
2019
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| 2 | IQSEC2, MRX1
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| The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
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| Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.
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| Am J Med Genet A 173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.
2017
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| 3 | IQSEC2, MRX1
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| Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
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| Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.
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| Eur J Hum Genet 25(6):763-767. doi: 10.1038/ejhg.2017.29. Epub 2017 Mar 15.
2017
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| 4 | IQSEC2, MRX1
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| The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
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| Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
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| Epilepsia 57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.
2016
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| 5 | IQSEC2, MRX1
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| Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
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| Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D.
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| Eur J Hum Genet 22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.
2014
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| 6 | OPHN1, FGD1, FMR1, GDI1, PAK3, RPS6KA3, MRX1
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| Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation.
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| Chelly J.
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| Hum Mol Genet 8(10):1833-8. Review. 1999
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| 7 | CDPX2A, GPKOW, MRX1, MRX12, MRX26, MRX8
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| Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
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| Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M,Ross M, Meindl A.
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| Genome Res 6(11):1056-69. 1996
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| 8 | MRX1
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| A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.
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| Suthers GK, et al.
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| Am J Med Genet 30 : 485-491. 1988
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