Repetitive conundrums of centromere structure and functionEICHLER, E. E.Human molecular genetics (Print). 1999, Vol 8, Num 2, pp 151-155, issn 0964-6906Article

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplicationsLOCKE, D. P; SEGRAVES, R; NICHOLLS, R. D et al.Journal of medical genetics. 2004, Vol 41, Num 3, pp 175-182, issn 0022-2593, 8 p.Article

Alternative splicing in the fragile X gene FMR1VERKERK, A. J. M. H; DE GRAAFF, E; OOSTRA, B. A et al.Human molecular genetics (Print). 1993, Vol 2, Num 4, pp 399-404, issn 0964-6906Article

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populationsEICHLER, E. E; NELSON, D. L.American journal of medical genetics. 1996, Vol 64, Num 1, pp 220-225, issn 0148-7299Article

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophyCOLLIE, A. Mb; LANDSVERK, M. L; YUM, S. W et al.Journal of medical genetics. 2010, Vol 47, Num 9, pp 601-607, issn 0022-2593, 7 p.Article

Recurrent reciprocal deletions and duplications of 16p13.11 : the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantHANNES, F. D; SHARP, A. J; STEWART, H et al.Journal of medical genetics. 2009, Vol 46, Num 4, pp 223-232, issn 0022-2593, 10 p.Article

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11HORVATH, J. E; VIGGIANO, L; LOFTUS, B. J et al.Human molecular genetics (Print). 2000, Vol 9, Num 1, pp 113-123, issn 0964-6906Article

Evolution of the cryptic FMR1 CGG repeatEICHLER, E. E; KUNST, C. B; LUNGENBEEL, K. A et al.Nature genetics. 1995, Vol 11, Num 3, pp 301-308, issn 1061-4036Article

Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsCHAI, J-H; LOCKE, D. P; GREALLY, J. M et al.American journal of human genetics. 2003, Vol 73, Num 4, pp 898-925, issn 0002-9297, 28 p.Article

Human hydroxysteroid sulfotransferase SULT2B1 : Two enzymes encoded by a single chromosome 19 geneHER, C; WOOD, T. C; EICHLER, E. E et al.Genomics (San Diego, Calif.). 1998, Vol 53, Num 3, pp 284-295, issn 0888-7543Article

Duplication of a gene-rich cluster betweem 16q11.1 and Xq28 : a novel pericentromeric-directed mechanism for paralogous genome evolutionEICHLER, E. E; LU, F; SHEN, Y et al.Human molecular genetics (Print). 1996, Vol 5, Num 7, pp 899-912, issn 0964-6906Article

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeVAN BON, B. W. M; MEFFORD, H. C; STEWART, H et al.Journal of medical genetics. 2009, Vol 46, Num 8, pp 511-523, issn 0022-2593, 13 p.Article

Clinical and molecular delineation of the 17q21.31 microdeletion syndromeKOOLEN, D. A; SHARP, A. J; GRISART, B et al.Journal of medical genetics. 2008, Vol 45, Num 11, pp 710-720, issn 0022-2593, 11 p.Article

Konsensus-Empfehlungen zur Medikamentösen Behandlung des Asthma Bronchiale im Kindes-und Jugendalter Österreichische Gesellschaft für Kinder- und Jugendheilkunde und Österreichische Gesellschaft für Lungenerkrankungen und Tuberkulose = Consensus conference on medical treatment of asthma in children and adolescentsFRISCHER, T; EICHLER, E. E; HORAK, E et al.Monatsschrift für Kinderheilkunde. 1999, Vol 147, Num 8, pp 788-791, issn 0026-9298Article

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16qLOFTUS, B. J; KIM, U.-J; MAYS, A. D et al.Genomics (San Diego, Calif.). 1999, Vol 60, Num 3, pp 295-308, issn 0888-7543Article

Predisposition to the fragile X syndrome in jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypeFALIK-ZACCAI, T. C; SHACHAK, E; YALON, M et al.American journal of human genetics. 1997, Vol 60, Num 1, pp 103-112, issn 0002-9297Article

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymeraseCHONG, S. S; EICHLER, E. E; NELSON, D. L et al.American journal of medical genetics. 1994, Vol 51, Num 4, pp 522-526, issn 0148-7299Article

Interchromosomal duplications of the adrenoleukodystrophy locus : a phenomenon of pericentromeric plasticityEICHLER, E. E; BUDARF, M. L; ROCCHI, M et al.Human molecular genetics (Print). 1997, Vol 6, Num 7, pp 991-1002, issn 0964-6906Article

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the origin of the fragile X syndromeEICHLER, E. E; MACPHERSON, J. N; MURRAY, A et al.Human molecular genetics (Print). 1996, Vol 5, Num 3, pp 319-330, issn 0964-6906Article

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptionsEICHLER, E. E; HAMMOND, H. A; MACPHERSON, J. N et al.Human molecular genetics (Print). 1995, Vol 4, Num 12, pp 2199-2208, issn 0964-6906Article

Length of uninterrupted CGG repeats determines instability in the FMR1 geneEICHLER, E. E; HOLDEN, J. J. A; POPOVICH, B. W et al.Nature genetics. 1994, Vol 8, Num 1, pp 88-94, issn 1061-4036Article

Fine structure of the human FMR1 geneEICHLER, E. E; RICHARDS, S; GIBBS, R. A et al.Human molecular genetics (Print). 1993, Vol 2, Num 8, pp 1147-1153, issn 0964-6906Article