Parisi MA - Search Results

1

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Bachmann-Gagescu R, et al. Among authors: parisi ma. J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. J Med Genet. 2012. PMID: 22241855

2

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA. Parisi MA, et al. Am J Med Genet. 2002 Feb 15;108(1):51-6. doi: 10.1002/ajmg.10185. Am J Med Genet. 2002. PMID: 11857550

3

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: parisi ma. Ultrasound Obstet Gynecol. 2003 Jun;21(6):609-15. doi: 10.1002/uog.112. Ultrasound Obstet Gynecol. 2003. PMID: 12808681 Free article.

4

Human malformations of the midbrain and hindbrain: review and proposed classification scheme.

Parisi MA, Dobyns WB. Parisi MA, et al. Mol Genet Metab. 2003 Sep-Oct;80(1-2):36-53. doi: 10.1016/j.ymgme.2003.08.010. Mol Genet Metab. 2003. PMID: 14567956 Review.

5

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: parisi ma. 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

6

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: parisi ma. 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

7

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. J Child Neurol. 2004 Mar;19(3):214-8. J Child Neurol. 2004. PMID: 15119482

8

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. 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.

9

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: parisi ma. Prenat Diagn. 2005 Jun;25(6):442-7. doi: 10.1002/pd.1145. Prenat Diagn. 2005. PMID: 15966043 Review.

10

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. 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.

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