Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Author:

Pilz D T,Dalton A,Long A,Jaspan T,Maltby E L,Quarrell O W

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Miller-Dieker and Norman-Roberts syndromes and Isolated lissencephaly;Dobyns, W.B.; Stratton, R.F.; Greenberg, F.;Am J Med Genet,1984

2. Syndromes with lissencephaly. II. WalkerWarburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly;Dobyns, W.B.; Kirkpatrick, J.B.; Hittner, H.M.; Roberts, R.M.; Ketzner, F.L.;Am J Med Genet,1985

3. Clinical and molecular diagnosis of MillerDieker syndrome;Dobyns, W.B.; Curry, C.J.R.; Hoyme, H.E.; Turlington, L.; Ledbetter, D.H.;AmY Hum Genet,1991

4. Causal heterogeneity in isolated lissencephaly;Dobyns, W.B.; Elias, E.R.; Newlin, A.C.; Pagon, R.A.; Ledbetter, D.H.;Neurology,1992

5. Diagnostic criteria for Walker-Warburg syndrome;Dobyns, W.B.; Pagon, R.A.; Armstrong, D.;Am 7 Med Genet,1989

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