Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).

Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C

Eur J Hum Genet, (2):171-175 2005

MED: 15483643

Title not supplied

Gerdes

Electrophoresis

Detection of large-scale variation in the human genome.

Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C

Nat Genet, (9):949-951 2004

MED: 15286789

Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.

Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Duno M, Kolvraa S, Lundsteen C

Am J Med Genet A, (2):111-117 2004

MED: 15108196

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA

J Med Genet, (12):892-899 2004

MED: 15591274

Large-scale copy number polymorphism in the human genome.

Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, [...] Wigler M

Science, (5683):525-528 2004

MED: 15273396