From chromosomes to molecular karyotyping

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 211-213

  Vermeesch, Joris Robert ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Array CGH; Cytogenetics; Molecular karyotyping

Indexed keywords

CHROMOSOME; CHROMOSOME TRANSLOCATION; COMMUNITY; CYTOGENETICS; EDITORIAL; HUMAN; INFORMATION; KARYOTYPING; MICRODISSECTION; NONHUMAN; X CHROMOSOME;

EID: 25144489055     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.007     Document Type: Editorial

References (17)

1. M. Bauters, H. Van Esch, P. Marynen, and G. Froyen X chromosome array-CGH for the identification of novel X-linked mental retardation genes Eur. J. Med. Genet. 48 3 2005
2. T. de Ravel, P. Aerssens, J.R. Vermeesch, and J.P. Fryns Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13 Eur. J. Med. Genet. 48 3 2005
3. K. Devriendt Eur. J. Med. Genet. Chromosomal Imbalance Lett. 48 3 2005
4. M. Hermsen, M. Tijssen, I. Hernando Acero, G. Meijer, B. Ylstra, and J. Fernández Toral High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q Eur. J. Med. Genet. 48 3 2005
5. K. Kok, T. Dijkhuizen, Y.E. Swart, H. Zorgdrager, P. van der Vlies, R. Fehrmann, G.J. te Meerman, K.B.J. Gerssen-Schoorl, T. van Essen, B. Sikkema-Raddatz, and C.H.C.M. Buys Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation Eur. J. Med. Genet. 48 3 2005
6. C. Le Caignec, A. Swillen, E. Van Asche, J.P. Fryns, and J.R. Vermeesch Interstitial 6q deletion: clinical and array CGH characterisation of a new patient Eur. J. Med. Genet. 48 3 2005
7. A. Matthaei, W. Werner, E.-M. Gerlach, U. Koerner, S. Tinschert, I. Nitz, A. Herr, A. Rump, O. Bartsch, K. Hinkel, E. Schrock, and K. Oexle Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by Array-CGH analysis Eur. J. Med. Genet. 48 3 2005
8. B. Menten, K. Buysse, J. Vandesompele, E. De Smet, A. De Paepe, F. Speleman, and G. Mortier Identification of an unbalanced X-autosome translocation by array-CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type Eur. J. Med. Genet. 48 3 2005
9. P.C. Patsalis, L. Kousoulidou, C. Sismani, K. Männik, and A. Kurg MAPH: from gels to microarrays Eur. J. Med. Genet. 48 3 2005
10. T. Pramparo, T. Mattina, S. Gimelli, T. Liehr, and O. Zuffardi Narrowing the deleted region associated with the 15q21 syndrome Eur. J. Med. Genet. 48 3 2005
11. L. Rickman, H. Fiegler, N.P. Carter, and M. Bobrow Prenatal diagnosis by array-CGH Eur. J. Med. Genet. 48 3 2005
12. D. Sanlaville, J.M. Lapierre, C. Turleau, A. Coquin, G. Borck, L. Colleaux, M. Vekemans, and S.P. Romana Molecular karyotyping in human constitutional cytogenetics Eur. J. Med. Genet. 48 3 2005
13. J. Schoumans, J. Staaf, G. Jönsson, J. Rantala, K.S. Zimmer, Å.. Borg, M. Nordenskjöld, and B.M. Anderlid Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to ∼650:kb Eur. J. Med. Genet. 48 3 2005
14. B. Thienpont, J.R. Vermeesch, and J.P. Fryns 25:Mb deletion of 13q13.3→q21.31 in a patient without retinoblastoma Eur. J. Med. Genet. 48 3 2005
15. G. Van Buggenhout, C. van Ravenswaaij-Arts, N.M. Maas, R. Thoelen, A. Vogels, D. Smeets, I. Salden, G. Matthijs, J.P. Fryns, and J.R. Vermeesch The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterisation of four patients Eur. J. Med. Genet. 48 3 2005
16. J. Vermeesch, C. Melotte, I. Salden, M. Riegel, V. Trifnov, A. Polityko, N. Rumyantseva, I. Naumchik, H. Starke, G. Matthijs, A. Schinzel, J.P. Fryns, and T. Liehr Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype Eur. J. Med. Genet. 48 3 2005
17. C. Zweier, S. Guth, U. Schulte-Mattler, A. Rauch, and U. Trautmann <10:Mb deletion in chromosome band 3q22.3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic, Eur J. Med. Genet. 48 3 2005