Parisi MA - Search Results

1

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. Among authors: parisi ma. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.

2

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

Parisi MA, Kletter GB, Grady R, Mitchell M, Ramsdell LA, Pagon RA. Parisi MA, et al. Am J Med Genet. 2002 May 15;109(4):271-7. doi: 10.1002/ajmg.10350. Am J Med Genet. 2002. PMID: 11992480

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

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

5

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

6

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

7

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.

8

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.

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. 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

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA. Hing AV, et al. Among authors: parisi ma. Am J Med Genet A. 2006 Apr 15;140(8):804-12. doi: 10.1002/ajmg.a.31160. Am J Med Genet A. 2006. PMID: 16523509

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