Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1989 1
1991 2
1992 1
1993 2
1999 1
2000 2
2001 1
2002 3
2003 4
2004 6
2005 5
2006 6
2007 7
2008 1
2009 5
2010 1
2011 3
2012 3
2013 2
2014 1
2015 4
2016 3
2017 6
2018 1
2019 3
2020 3
2022 6
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

80 results

Results by year

Filters applied: . Clear all
Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: parisi ma. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Health Supervision for Children and Adolescents With Down Syndrome.
Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Bull MJ, et al. Among authors: parisi ma. Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. Pediatrics. 2022. PMID: 35490285 No abstract available.
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. Bachmann-Gagescu R, et al. Among authors: parisi ma. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Note from the editors.
Urv TK, Parisi MA. Urv TK, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):5-6. doi: 10.1002/ajmg.c.32039. Am J Med Genet C Semin Med Genet. 2023. PMID: 36960570 No abstract available.
Newborn Screening: Beyond the Spot.
Urv TK, Parisi MA. Urv TK, et al. Among authors: parisi ma. Adv Exp Med Biol. 2017;1031:323-346. doi: 10.1007/978-3-319-67144-4_19. Adv Exp Med Biol. 2017. PMID: 29214581 Review.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK. Yu TW, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 36691939
Gene-targeted therapies: Overview and implications.
Brooks PJ, Urv TK, Parisi MA. Brooks PJ, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):13-18. doi: 10.1002/ajmg.c.32033. Epub 2023 Mar 2. Am J Med Genet C Semin Med Genet. 2023. PMID: 36864710
Genetics of Hirschsprung disease.
Parisi MA, Kapur RP. Parisi MA, et al. Curr Opin Pediatr. 2000 Dec;12(6):610-7. doi: 10.1097/00008480-200012000-00017. Curr Opin Pediatr. 2000. PMID: 11106284 Review.
Molecular genetics in pediatric dermatology.
Parisi MA, Sybert VP. Parisi MA, et al. Curr Opin Pediatr. 2000 Aug;12(4):347-53. doi: 10.1097/00008480-200008000-00012. Curr Opin Pediatr. 2000. PMID: 10943815 Review.
80 results