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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028.
Hum Mutat. 2002.
PMID: 11754098
Review.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
Dobyns WB, et al.
Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.
Am J Med Genet A. 2008.
PMID: 18536050
Free PMC article.
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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH.
Martin CL, et al. Among authors: roseberry ja.
J Med Genet. 2002 Oct;39(10):734-40. doi: 10.1136/jmg.39.10.734.
J Med Genet. 2002.
PMID: 12362030
Free PMC article.
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Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE.
Das S, et al. Among authors: roseberry ja.
Am J Hum Genet. 2000 Dec;67(6):1586-91. doi: 10.1086/316897. Epub 2000 Oct 18.
Am J Hum Genet. 2000.
PMID: 11038325
Free PMC article.
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