Ledbetter DH - Search Results

1

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics; Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Di Donato N, et al. Among authors: ledbetter dh. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19. Genet Med. 2018. PMID: 29671837 Free PMC article.

2

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Ledbetter SA, et al. Among authors: ledbetter dh. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 Free PMC article.

3

Causal heterogeneity in isolated lissencephaly.

Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Dobyns WB, et al. Among authors: ledbetter dh. Neurology. 1992 Jul;42(7):1375-88. doi: 10.1212/wnl.42.7.1375. Neurology. 1992. PMID: 1620349

4

Clinical and molecular diagnosis of Miller-Dieker syndrome.

Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Dobyns WB, et al. Among authors: ledbetter dh. Am J Hum Genet. 1991 Mar;48(3):584-94. Am J Hum Genet. 1991. PMID: 1671808 Free PMC article.

5

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Kuwano A, et al. Among authors: ledbetter dh, ledbetter sa. Am J Hum Genet. 1991 Oct;49(4):707-14. Am J Hum Genet. 1991. PMID: 1897521 Free PMC article.

6

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.

Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH. Batanian JR, et al. Among authors: ledbetter dh, ledbetter sa. Hum Genet. 1990 Oct;85(5):555-9. doi: 10.1007/BF00194237. Hum Genet. 1990. PMID: 2227942

7

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH. vanTuinen P, et al. Among authors: ledbetter dh. Am J Hum Genet. 1988 Nov;43(5):587-96. Am J Hum Genet. 1988. PMID: 3189330 Free PMC article.

8

Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.

Greenberg F, Stratton RF, Lockhart LH, Elder FF, Dobyns WB, Ledbetter DH. Greenberg F, et al. Among authors: ledbetter dh. Am J Med Genet. 1986 Apr;23(4):853-9. doi: 10.1002/ajmg.1320230402. Am J Med Genet. 1986. PMID: 3963054

9

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. Stratton RF, et al. Among authors: ledbetter dh. Hum Genet. 1984;67(2):193-200. doi: 10.1007/BF00273000. Hum Genet. 1984. PMID: 6745939

10

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Dobyns WB, et al. Among authors: ledbetter dh. J Pediatr. 1983 Apr;102(4):552-8. doi: 10.1016/s0022-3476(83)80183-8. J Pediatr. 1983. PMID: 6834189

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