Cytogenetics

Citations 1-10 of 25 total displayed.

Original articles
Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform

E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, A R Brothman
J. Med. Genet. 2008 45: 268 -274; published online before print as 10.1136/jmg.2007.055319 [Abstract] [Full text] [PDF] [Request Permissions] [ web only table ]  

Original articles
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, O Zuffardi
J. Med. Genet. 2007 44: 750 -762; published online before print as 10.1136/jmg.2007.052787 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Original articles
Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

M D Graf, L Christ, J T Mascarello, P Mowrey, M Pettenati, G Stetten, P Storto, U Surti, D L Van Dyke, G H Vance, D Wolff, S Schwartz
J. Med. Genet. 2006; 43: 660-664. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Prenatal detection of unbalanced chromosomal rearrangements by array CGH

L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, N P Carter, M Bobrow
J. Med. Genet. 2006 43: 353 -361; published online before print as 10.1136/jmg.2005.037648 [Abstract] [Full text] [PDF] [Request Permissions] [ Web-only table ]  

Letters to JMG
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

P Aubourg, M Krahn, R Bernard, K Nguyen, O Forzano, I Boccaccio, V Delague, A De Sandre-Giovannoli, J Pouget, D Depétris, M-G Mattei, N Philip, N Lévy
J. Med. Genet. 2005; 42: 253-259. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Molecular karyotyping using an SNP array for genomewide genotyping

A Rauch, F Rüschendorf, J Huang, U Trautmann, C Becker, C Thiel, K W Jones, A Reis, P Nürnberg
J. Med. Genet. 2004; 41: 916-922. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, L Larizza
J. Med. Genet. 2004; 41: e90. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

M A Aldred, R O C Sanford, N S Thomas, M A Barrow, L C Wilson, L A Brueton, M C Bonaglia, R C M Hennekam, C Eng, N R Dennis, R C Trembath
J. Med. Genet. 2004; 41: 433-439. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Appendix ]  

Letters to JMG
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

J Schoumans, B-M Anderlid, E Blennow, B T Teh, M Nordenskjöld
J. Med. Genet. 2004; 41: 198-202. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)

H R Slater, D L Bruno, H Ren, M Pertile, J P Schouten, K H A Choo
J. Med. Genet. 2003; 40: 907-912. [Extract] [Full text] [PDF] [Request Permissions]