Gleeson JG - Search Results

1

Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.

Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. Marsh SE, et al. Among authors: gleeson jg. J Child Neurol. 2004 Mar;19(3):227-31. J Child Neurol. 2004. PMID: 15119486

2

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. Pilz DT, et al. Among authors: gleeson jg. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

3

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. Among authors: gleeson jg. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

4

Genetics of brain development and malformation syndromes.

Tanaka T, Gleeson JG. Tanaka T, et al. Among authors: gleeson jg. Curr Opin Pediatr. 2000 Dec;12(6):523-8. doi: 10.1097/00008480-200012000-00002. Curr Opin Pediatr. 2000. PMID: 11106269 Review.

5

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. Keeler LC, et al. Among authors: gleeson jg. Am J Hum Genet. 2003 Sep;73(3):656-62. doi: 10.1086/378206. Epub 2003 Aug 13. Am J Hum Genet. 2003. PMID: 12917796 Free PMC article.

6

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.

Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Leeflang EP, et al. Among authors: gleeson jg. J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128. J Med Genet. 2003. PMID: 14684696 Free PMC article. No abstract available.

7

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. 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

8

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Dixon-Salazar T, et al. Among authors: gleeson jg. Am J Hum Genet. 2004 Dec;75(6):979-87. doi: 10.1086/425985. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467982 Free PMC article.

9

Autism in several members of a family with generalized epilepsy with febrile seizures plus.

Dixon-Salazar TJ, Keeler LC, Trauner DA, Gleeson JG. Dixon-Salazar TJ, et al. Among authors: gleeson jg. J Child Neurol. 2004 Aug;19(8):597-603. doi: 10.1177/088307380401900806. J Child Neurol. 2004. PMID: 15605469

10

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: gleeson jg. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.

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