| 1 | DEL17Q21
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| Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.
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| Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D.
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| Am J Med Genet A 161(1):21-6. doi: 10.1002/ajmg.a.35652. Epub 2012 Nov 20.
2013
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| 2 | DEL17Q21
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| Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
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| Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.
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| Am J Hum Genet 90(4):599-613.
2012
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| 3 | DEL17Q21, KANSL1
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| Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
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| Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.
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| Nat Genet at Genet. 2012 Apr 29. doi: 10.1038/ng.2262. [Epub ahead of print]
2012
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| 4 | DEL17Q21
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| Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
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| Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ.
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| Eur J Hum Genet 20(7):729-33. doi: 10.1038/ejhg.2012.1. Epub 2012 Feb 1.
2012
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| 5 | DEL17Q21, KANSL1
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| Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
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| Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
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| Nat Genet 44(6):636-8. doi: 10.1038/ng.2257. 2012
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| 6 | DEL17Q21, SALL3
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| The Spalt family transcription factor Sall3 regulates the development of cone photoreceptors and retinal horizontal interneurons.
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| de Melo J, Peng GH, Chen S, Blackshaw S.
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| Development 138(11):2325-36. 2011
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| 7 | DEL17Q21
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| 17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype.
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| Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP.
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| Cytogenet Genome Res ytogenet Genome Res. 2010 Jan 27. [Epub ahead of print]
2010
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| 8 | DEL17Q21, MAPT
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| Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
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| Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J.
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| Eur J Med Genet ur J Med Genet. 2010 Nov 20. [Epub ahead of print]PMID: 21094706 2010
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| 9 | DEL17Q21, MAPT
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| Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
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| Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Savarirayan R, Peters G.
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| J Med Genet 46(7):480-9. Epub 2009 May 15.
2009
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| 10 | DEL17Q21
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| A 580kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
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| Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B.
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| Eur J Med Genet 51(1):74-80. Epub 2007 Oct 2. 2008
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| 11 | DEL15Q13, DEL15Q24, DEL16P12, DEL17Q21, DEL1Q41, DEL2P15, DEL9Q22, DUP17Q21
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| Novel microdeletion syndromes detected by chromosome microarrays.
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| Slavotinek AM.
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| Hum Genet May 30. [Epub ahead of print] 2008
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| 12 | DEL17Q21, MAPT
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| Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
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| Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.
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| J Med Genet 45(11):710-20. Epub 2008 Jul 15.
2008
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| 13 | BPES, DEL10PP, DEL13QD, DEL17Q21, DEL18QP, DEL3PD, DUP10QD, DUP16P133, DUP6PD, FOXL2
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| Identification of copy number variants associated with BPES-like phenotypes.
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| Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA.
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| Hum Genet 124(5):489-98. Epub 2008 Oct 25. 2008
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| 14 | DEL17Q21
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| A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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| Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB.
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| Nat Genet 38(9):999-1001. Epub 2006 Aug 13. 2006
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| 15 | DEL17Q21
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| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
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| Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.
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| Nat Genet 38(9):1032-7. Epub 2006 Aug 13. 2006
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| 16 | DEL17Q21, DEL1Q21D
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| Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
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| Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.
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| Nat Genet 38(9):1038-42. Epub 2006 Aug 13. 2006
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| 17 | DEL17Q21
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| A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
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| Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP.
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| Cytogenet Genome Res 114(1):89-92. 2006
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| 18 | DEL17Q21,FTDP17,FTDU17,GRN,MAPT
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| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
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| Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.
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| Hum Mol Genet 14(13):1753-62. Epub 2005 May 11. 2005
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| 19 | DEL17Q21
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| A common inversion under selection in Europeans.
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| Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K.
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| Nat Genet 37(2):129-37. Epub 2005 Jan 16. 2005
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| 20 | DEL17Q21
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| Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).
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| Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME.
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| Am J Med Genet 71(3):275-9. Review. 1997
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