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  • Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, King M, Maltby EL, McManus S, Pilz DT, Shafei-Benaissa E, Super M, Tolmie J. 1996. Down syndrome with partial duplication and del (21) syndrome: Study protocol and call for collaboration. Study I: Clinical assessment. Clin Genet 49: 2027.
  • Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. “Compensatory” uniparental disomy of chromosome 21 in two cases. J Med Genet 31: 534540.
  • Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Gregoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. 2008. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions. Eur J Hum Genet 16: 10141018.
  • Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O. 2008. Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant. Eur J Med Genet 51: 148155.
  • Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, Prieur M, Rethore MO, Sinet PM, Chery M, et al. 1995. Molecular mapping of 21 features associated with partial monosomy 21: Involvement of the APP-SOD1 region. Am J Hum Genet 57: 6271.
  • Ehling D, Kennerknecht I, Junge A, Prager B, Exeler R, Behre B, Horst J, Schmitt-John T, Bartsch O, Wirth J. 2004. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet Part A 131A: 265272.
  • Griffon N, Jeanneteau F, Prieur F, Diaz J, Sokoloff P. 2003. CLIC6, a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors. Brain Res Mol Brain Res 117: 4757.
  • Hoeffer CA, Dey A, Sachan N, Wong H, Patterson RJ, Shelton JM, Richardson JA, Klann E, Rothermel BA. 2007. The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling. J Neurosci 27: 1316113172.
  • Hoyer J, Dreweke A, Becker C, Gohring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. 2007. Molecular karyotyping in patients with mental retardation using 100 K single-nucleotide polymorphism arrays. J Med Genet 44: 629636.
  • Huret JL, Schoenwald M, Gabarre J, Vaugier GL, Tanzer J. 1991. Two additional cases of isochromosome 21q or translocation 21q21q in hematological malignancies. Acta Haematol 86: 111114.
  • Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. 1992. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257: 797800.
  • Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ. 2001. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104: 205215.
  • Kuo MC, Liang DC, Huang CF, Shih YS, Wu JH, Lin TL, Shih LY. 2009. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia 23: 14261431.
  • Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. 2010. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 77: 145154.
  • Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV. 1996. A common molecular basis for three inherited kidney stone diseases. Nature 379: 445449.
  • Lyle R, Bena F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE. 2009. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 17: 454466.
  • Nielsen F, Tranebjaerg L. 1984. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet 21: 218221.
  • Orti R, Megarbane A, Maunoury C, Van Broeckhoven C, Sinet PM, Delabar JM. 1997. High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. Genomics 43: 2533.
  • Osato M. 2004. Point mutations in the RUNX1/AML1 gene: Another actor in RUNX leukemia. Oncogene 23: 42844296.
  • Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. 2007. 2q24-q31 deletion: Report of a case and review of the literature. Eur J Med Genet 50: 2132.
  • Porta S, Serra SA, Huch M, Valverde MA, Llorens F, Estivill X, Arbones ML, Marti E. 2007. RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: A potential pathogenic process in neurodegeneration. Hum Mol Genet 16: 10391050.
  • Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, Dhedin N, Andre JM, Cornillet-Lefebvre P, Baruchel A, Mozziconacci MJ, Sobol H. 2009. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 113: 55835587.
  • Rethore MO, Dutrillaux B. 1973. Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21. Ann Genet 16: 271275.
  • Riordan J, Dieppe P. 1989. Arthritis of the glenohumeral joint. Baillieres Clin Rheumatol 3: 607625.
  • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41: 241248.
  • Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. 2008. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood 112: 10421047.
  • Speck NA, Gilliland DG. 2002. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer 2: 502513.
  • Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. 1997. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 17: 338340.
  • Theodoropoulos DS, Cowan JM, Elias ER, Cole C. 1995. Physical findings in 21q22 deletion suggest critical region for 21q-phenotype in q22. Am J Med Genet 59: 161163.
  • Valero R, Marfany G, Gil-Benso R, Ibanez MA, Lopez-Pajares I, Prieto F, Rullan G, Sarret E, Gonzalez-Duarte R. 1999. Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR. J Med Genet 36: 694699.
  • van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A. 2010. Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res 34: e8e12.
  • Yamamoto Y, Ogasawara N, Gotoh A, Komiya H, Nakai H, Kuroki Y. 1979. A case of 21q-syndrome with normal SOD-1 activity. Hum Genet 48: 321327.
  • Yao G, Chen XN, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, McGillivray B, Morse RP, Korenberg JR. 2006. Deletion of chromosome 21 disturbs human brain morphogenesis. Genet Med 8: 17.