Dobyns WB - Search Results

1

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Among authors: dobyns wb. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.

2

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Dobyns WB, et al. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

3

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Gleeson JG, et al. Among authors: dobyns wb. Am J Hum Genet. 2000 Sep;67(3):574-81. doi: 10.1086/303043. Epub 2000 Jul 27. Am J Hum Genet. 2000. PMID: 10915612 Free PMC article.

4

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM Jr, Maria BL, Barkovich AJ, Dobyns WB. Gleeson JG, et al. Among authors: dobyns wb. Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117. doi: 10.1002/ajmg.a.20437. Am J Med Genet A. 2004. PMID: 14981712

5

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.

6

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Zaki M, et al. Among authors: dobyns wb. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Am J Med Genet A. 2007. PMID: 17431900

7

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. Zaki MS, et al. Among authors: dobyns wb. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

8

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG. Cantagrel V, et al. Among authors: dobyns wb. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.

9

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Hanna RM, et al. Among authors: dobyns wb. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492. Neurology. 2011. PMID: 21263138 Free PMC article.

10

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. Zaki MS, et al. Among authors: dobyns wb. Am J Med Genet A. 2011 Dec;155A(12):3035-41. doi: 10.1002/ajmg.a.34078. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002884 Free PMC article.

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