Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004, 5 (10): 725–38. PMID 15510164.
Antonarakis SE, Lyle R, Deutsch S, Reymond A. Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol. 2002, 46 (1): 89–96. PMID 11902692.
Antonarakis SE. Chromosome 21: from sequence to applications. Curr Opin Genet Dev. 2001, 11 (3): 241–6. PMID 11377958.
Gardiner K, Davisson M. The sequence of human chromosome 21 and implications for research into Down syndrome. Genome Biol. 2000, 1 (2): REVIEWS0002. PMID 11178230.
Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 21. Genet Test. 1997, 1 (4): 301–6. PMID 10464663.
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML. The DNA sequence of human chromosome 21. Nature. 2000, 405 (6784): 311–9. PMID 10830953.
Sawinska M, Ladon D. Mechanism, detection and clinical significance of the reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute lymphoblastic leukaemia. Leuk Res. 2004, 28 (1): 35–42. PMID 14630078.
Sleegers K,Brouwers N,Gijselinck I,Theuns J, Goossens D, Wauters J,Del-Favero J,Cruts M, van Duijn CM,Van Broeckhoven C. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain. 2006. PMID 16921174.
Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerriere A, Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M, Dubas F,Frebourg T,Campion D. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics. 2005. PMID 16369530.