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Items: 1 to 50 of 63

1.

Newborn Screening: Beyond the Spot.

Urv TK, Parisi MA.

Adv Exp Med Biol. 2017;1031:323-346. doi: 10.1007/978-3-319-67144-4_19. Review.

PMID:
29214581
2.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.

3.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.

4.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001321. doi: 10.1101/mcs.a001321. Print 2017 Jul.

5.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12.

6.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M.

Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.

PMID:
28125082
7.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M.

J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.

PMID:
28087721
8.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

9.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE.

Mol Genet Metab. 2016 Jun;118(2):65-9. doi: 10.1016/j.ymgme.2016.04.006. Epub 2016 Apr 14.

10.

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.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

11.

Hirschsprung Disease Overview.

Parisi MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jul 12 [updated 2015 Oct 1].

12.

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.

Peprah EK, Parisi MA, Kaeser L, Bardhan S, Oster-Granite M, Maddox YT.

Glob Heart. 2015 Dec;10(4):337-40. doi: 10.1016/j.gheart.2015.04.001. Epub 2015 Aug 11.

13.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

14.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
15.

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM.

Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23.

16.

Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12.

Wong TB, Rowell JC, Waldhausen JH, Parisi MA, Jonmarker C.

J Clin Anesth. 2013 Mar;25(2):135-7. doi: 10.1016/j.jclinane.2012.06.014. Epub 2012 Dec 28.

PMID:
23274076
17.

Ambiguous genitalia: what prenatal genetic testing is practical?

Adam MP, Fechner PY, Ramsdell LA, Badaru A, Grady RE, Pagon RA, McCauley E, Cheng EY, Parisi MA, Shnorhavorian M.

Am J Med Genet A. 2012 Jun;158A(6):1337-43. doi: 10.1002/ajmg.a.35338. Epub 2012 May 11.

PMID:
22581420
18.

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.

J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.

PMID:
22241855
19.

Down syndrome: national conference on patient registries, research databases, and biobanks.

Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13.

20.

We don't know what we don't study: the case for research on medication effects in pregnancy.

Parisi MA, Spong CY, Zajicek A, Guttmacher AE.

Am J Med Genet C Semin Med Genet. 2011 Aug 15;157C(3):247-50. doi: 10.1002/ajmg.c.30309. Epub 2011 Jul 15.

21.

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.

Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.

Am J Med Genet A. 2011 Jul;155A(7):1673-9. doi: 10.1002/ajmg.a.34024. Epub 2011 May 27.

PMID:
21626672
22.

Cilia and the ciliopathies: an introduction.

Toriello HV, Parisi MA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):261-2. doi: 10.1002/ajmg.c.30230. No abstract available.

PMID:
19876932
23.

Clinical and molecular features of Joubert syndrome and related disorders.

Parisi MA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Review.

24.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA.

J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.

25.

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA.

J Pediatr. 2009 Sep;155(3):386-92.e1. doi: 10.1016/j.jpeds.2009.03.045. Epub 2009 Jun 21.

26.
27.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.

Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23.

28.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F.

J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.

29.

A Gender Assessment Team: experience with 250 patients over a period of 25 years.

Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, Kletter GB, McCauley E, Mitchell ME, Opheim KE, Pihoker C, Richards GE, Soules MR, Pagon RA.

Genet Med. 2007 Jun;9(6):348-57.

PMID:
17575501
30.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.

Nat Genet. 2007 Jul;39(7):882-8. Epub 2007 Jun 10.

PMID:
17558407
31.

Joubert syndrome (and related disorders) (OMIM 213300).

Parisi MA, Doherty D, Chance PF, Glass IA.

Eur J Hum Genet. 2007 May;15(5):511-21. Epub 2007 Mar 21.

32.

A case of true hermaphroditism reveals an unusual mechanism of twinning.

Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW.

Hum Genet. 2007 Apr;121(2):179-85. Epub 2006 Dec 13.

PMID:
17165045
33.

The impact of thrombocytopenia from temozolomide and radiation in newly diagnosed adults with high-grade gliomas.

Gerber DE, Grossman SA, Zeltzman M, Parisi MA, Kleinberg L.

Neuro Oncol. 2007 Jan;9(1):47-52. Epub 2006 Nov 15.

34.

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM Jr.

Muscle Nerve. 2007 Feb;35(2):254-8.

PMID:
16967490
35.

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R.

Am J Med Genet A. 2006 Jul 15;140(14):1497-503.

PMID:
16770802
36.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F.

Nat Genet. 2006 Jun;38(6):674-81. Epub 2006 May 7.

PMID:
16682973
37.

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.

Am J Med Genet A. 2006 Apr 15;140(8):804-12.

PMID:
16523509
38.

Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.

Parisi MA, Lipman NS, Clarke CM, Taylor B, Kapur RP.

J Pediatr Surg. 2005 Nov;40(11):1760-5.

PMID:
16291166
39.

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.

J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9.

40.

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.

Prenat Diagn. 2005 Jun;25(6):442-7. Review.

PMID:
15966043
41.

Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- mice.

Kapur RP, Clarke CM, Doggett B, Taylor BE, Baldessari A, Parisi MA, Howe DG.

Pediatr Dev Pathol. 2005 Mar-Apr;8(2):148-61. Epub 2005 Apr 7.

PMID:
15803212
42.

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.

Ligon AH, Moore SD, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC.

Am J Hum Genet. 2005 Feb;76(2):340-8. Epub 2004 Dec 10.

43.

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.

Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN.

Am J Med Genet A. 2004 Jun 15;127A(3):277-87.

PMID:
15150779
44.

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.

Am J Hum Genet. 2004 Jul;75(1):82-91. Epub 2004 May 11.

45.

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.

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

PMID:
15119482
46.

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.

Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117.

PMID:
14981712
47.

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.

Am J Med Genet A. 2004 Mar 1;125A(2):117-24; discussion 117.

PMID:
14981711
48.

Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice.

Parisi MA, Baldessari AE, Iida MH, Clarke CM, Doggett B, Shirasawa S, Kapur RP.

Gastroenterology. 2003 Nov;125(5):1428-40.

PMID:
14598259
49.

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

Parisi MA, Dobyns WB.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):36-53. Review.

PMID:
14567956
50.

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.

Souter VL, Glass IA, Chapman DB, Raff ML, Parisi MA, Opheim KE, Disteche CM.

Ultrasound Obstet Gynecol. 2003 Jun;21(6):609-15.

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