Glass IA - Search Results

1

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: glass ia. 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

2

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.

Souter VL, Glass IA, Chapman DB, Raff ML, Parisi MA, Opheim KE, Disteche CM. Souter VL, et al. Among authors: glass ia. Ultrasound Obstet Gynecol. 2003 Jun;21(6):609-15. doi: 10.1002/uog.112. Ultrasound Obstet Gynecol. 2003. PMID: 12808681 Free article.

3

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA. Bennett CL, et al. Among authors: glass ia. Am J Med Genet A. 2004 Mar 1;125A(2):117-24; discussion 117. doi: 10.1002/ajmg.a.20438. Am J Med Genet A. 2004. PMID: 14981711

4

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

Parisi MA, Pinter JD, Glass IA, Field K, Maria BL, Chance PF, Mahurin RK, Cramer SC. Parisi MA, et al. Among authors: glass ia. J Child Neurol. 2004 Mar;19(3):214-8. J Child Neurol. 2004. PMID: 15119482

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: glass ia. 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

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Mirzaa G, et al. Neuropediatrics. 2004 Dec;35(6):353-9. doi: 10.1055/s-2004-830497. Neuropediatrics. 2004. PMID: 15627943

7

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D. Doherty D, et al. Among authors: glass ia. Prenat Diagn. 2005 Jun;25(6):442-7. doi: 10.1002/pd.1145. Prenat Diagn. 2005. PMID: 15966043 Review.

8

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.

Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM Jr. Bennett CL, et al. Among authors: glass ia. Neurogenetics. 2005 Sep;6(3):143-9. doi: 10.1007/s10048-005-0221-8. Epub 2005 Aug 2. Neurogenetics. 2005. PMID: 16075246

9

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: glass ia. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.

10

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL. Chen YZ, et al. Among authors: glass ia. Neurobiol Dis. 2006 Jul;23(1):97-108. doi: 10.1016/j.nbd.2006.02.007. Epub 2006 Apr 27. Neurobiol Dis. 2006. PMID: 16644229

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