Dobyns WB - Search Results

1

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA. Bem D, et al. Among authors: dobyns wb. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Am J Hum Genet. 2011. PMID: 21473985 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: dobyns wb. Am J Hum Genet. 1992 Jan;50(1):182-9. Am J Hum Genet. 1992. PMID: 1346078 Free PMC article.

3

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: dobyns wb. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 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

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.

6

Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.

Kerner B, Graham JM Jr, Golden JA, Pepkowitz SH, Dobyns WB. Kerner B, et al. Among authors: dobyns wb. Am J Med Genet. 1999 Dec 22;87(5):440-5. Am J Med Genet. 1999. PMID: 10594886

7

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. Villard L, et al. Among authors: dobyns wb. Am J Hum Genet. 2002 Apr;70(4):1003-8. doi: 10.1086/339433. Epub 2002 Jan 29. Am J Hum Genet. 2002. PMID: 11822025 Free PMC article.

8

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Among authors: dobyns wb. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.

9

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. Parisi MA, et al. Among authors: dobyns wb. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Am J Hum Genet. 2004. PMID: 15138899 Free PMC article.

10

MICRO syndrome: an entity distinct from COFS syndrome.

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Among authors: dobyns wb. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.

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