Dobyns WB - Search Results

1

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Ramocki MB, et al. Among authors: dobyns wb. Eur J Hum Genet. 2003 Jul;11(7):527-34. doi: 10.1038/sj.ejhg.5200995. Eur J Hum Genet. 2003. PMID: 12825074

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: dobyns wb. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 Free PMC article.

3

Clinical and molecular diagnosis of Miller-Dieker syndrome.

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

4

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: dobyns wb. Am J Hum Genet. 1991 Oct;49(4):707-14. Am J Hum Genet. 1991. PMID: 1897521 Free PMC article.

5

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: dobyns wb. Hum Genet. 1990 Oct;85(5):555-9. doi: 10.1007/BF00194237. Hum Genet. 1990. PMID: 2227942

6

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: dobyns wb. Am J Hum Genet. 1988 Nov;43(5):587-96. Am J Hum Genet. 1988. PMID: 3189330 Free PMC article.

7

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: dobyns wb. Am J Med Genet. 1986 Apr;23(4):853-9. doi: 10.1002/ajmg.1320230402. Am J Med Genet. 1986. PMID: 3963054

8

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

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

9

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

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

10

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Dobyns WB, et al. JAMA. 1993 Dec 15;270(23):2838-42. doi: 10.1001/jama.270.23.2838. JAMA. 1993. PMID: 7907669 Review.

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