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Items: 48

1.

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Spiridigliozzi GA, Goeldner C, Edgin J, Hart SJ, Noeldeke J, Squassante L, Visootsak J, Heller JH, Khwaja O, Kishnani PS, Liogier d'Ardhuy X.

Am J Med Genet A. 2019 Jan;179(1):85-93. doi: 10.1002/ajmg.a.60685. Epub 2018 Dec 20.

PMID:
30569586
2.

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.

Lee AW, Ventola P, Budimirovic D, Berry-Kravis E, Visootsak J.

Brain Sci. 2018 Dec 5;8(12). pii: E214. doi: 10.3390/brainsci8120214. Review.

3.

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).

Grieco JC, Romero B, Flood E, Cabo R, Visootsak J.

Patient. 2019 Feb;12(1):97-112. doi: 10.1007/s40271-018-0323-7.

4.

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Hart SJ, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez MC, Skotko BG, Ochoa-Lubinoff C, Liogier D'Ardhuy X, Kishnani PS, Spiridigliozzi GA.

Am J Med Genet A. 2017 Nov;173(11):3029-3041. doi: 10.1002/ajmg.a.38465. Epub 2017 Sep 8. Review.

PMID:
28884975
5.

A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

Kong AM, Hurley D, Evans KA, Brixner D, Csoboth C, Visootsak J.

J Manag Care Spec Pharm. 2017 Jul;23(7):761-770. doi: 10.18553/jmcp.2017.23.7.761.

6.

Arbaclofen in fragile X syndrome: results of phase 3 trials.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL.

J Neurodev Disord. 2017 Jun 12;9:3. doi: 10.1186/s11689-016-9181-6. eCollection 2017.

7.

Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.

Reines V, Charen K, Rosser T, Eisen A, Sherman SL, Visootsak J.

J Genet Couns. 2017 Dec;26(6):1333-1340. doi: 10.1007/s10897-017-0111-x. Epub 2017 May 24.

PMID:
28536925
8.

Importance of a specialty clinic for individuals with fragile X syndrome.

Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM.

Am J Med Genet A. 2016 Dec;170(12):3144-3149. doi: 10.1002/ajmg.a.37982. Epub 2016 Sep 20.

PMID:
27649377
9.

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F.

Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.

PMID:
26764156
10.

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Liogier d'Ardhuy X, Edgin JO, Bouis C, de Sola S, Goeldner C, Kishnani P, Nöldeke J, Rice S, Sacco S, Squassante L, Spiridigliozzi G, Visootsak J, Heller J, Khwaja O.

Front Behav Neurosci. 2015 Nov 18;9:300. doi: 10.3389/fnbeh.2015.00300. eCollection 2015.

11.

A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.

Suhl JA, Muddashetty RS, Anderson BR, Ifrim MF, Visootsak J, Bassell GJ, Warren ST.

Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):E6553-61. doi: 10.1073/pnas.1514260112. Epub 2015 Nov 9.

12.

Neurodevelopmental outcomes in children with Down syndrome and infantile spasms.

Tapp S, Anderson T, Visootsak J.

J Pediatr Neurol. 2015 Jun;13(2):74-77.

13.

Improving Health Education for Women Who Carry an FMR1 Premutation.

Espinel W, Charen K, Huddleston L, Visootsak J, Sherman S.

J Genet Couns. 2016 Apr;25(2):228-38. doi: 10.1007/s10897-015-9862-4. Epub 2015 Jul 16.

14.

Sleep profiles in children with Down syndrome.

Bassell JL, Phan H, Leu R, Kronk R, Visootsak J.

Am J Med Genet A. 2015 Aug;167A(8):1830-5. doi: 10.1002/ajmg.a.37096. Epub 2015 Jun 23.

15.

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

Visootsak J, Huddleston L, Buterbaugh A, Perkins A, Sherman S, Hunter J.

Cardiol Young. 2016 Feb;26(2):250-6. doi: 10.1017/S1047951115000062. Epub 2015 Feb 16.

16.

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.

Myrick LK, Deng PY, Hashimoto H, Oh YM, Cho Y, Poidevin MJ, Suhl JA, Visootsak J, Cavalli V, Jin P, Cheng X, Warren ST, Klyachko VA.

Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):949-56. doi: 10.1073/pnas.1423094112. Epub 2015 Jan 5.

17.

Cognitive aspects of Fragile X syndrome.

Huddleston LB, Visootsak J, Sherman SL.

Wiley Interdiscip Rev Cogn Sci. 2014 Jul;5(4):501-508. doi: 10.1002/wcs.1296. Epub 2014 May 29.

18.

Implications of delayed diagnosis of infantile spasm in a child with Down syndrome.

Buterbaugh A, Visootsak J.

J Pediatr Neurol. 2014;12(2):105-107.

19.

Fragile X syndrome: a review of associated medical problems.

Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E.

Pediatrics. 2014 Nov;134(5):995-1005. doi: 10.1542/peds.2013-4301. Epub 2014 Oct 6. Review.

PMID:
25287458
20.

Object-related generativity in children with Down syndrome.

Fidler DJ, Will E, Daunhauer LA, Gerlach-McDonald B, Visootsak J.

Res Dev Disabil. 2014 Dec;35(12):3379-85. doi: 10.1016/j.ridd.2014.07.024. Epub 2014 Sep 6. Erratum in: Res Dev Disabil. 2015 Oct-Nov;45-46:431-2.

PMID:
25194513
21.

Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.

Buterbaugh A, Mroczkowski HJ, Shankar SP, Visootsak J.

Ann Paediatr Rheumatol. 2013 Apr 1;2(4):165-167.

22.

A Case of False Negative NIPT for Down Syndrome-Lessons Learned.

Smith M, Lewis KM, Holmes A, Visootsak J.

Case Rep Genet. 2014;2014:823504. doi: 10.1155/2014/823504. Epub 2014 Feb 4.

23.

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

Visootsak J, Hipp H, Clark H, Berry-Kravis E, Anderson T, Laney D.

J Pediatr. 2014 Jun;164(6):1292-5. doi: 10.1016/j.jpeds.2014.01.051. Epub 2014 Mar 6.

24.

A male with cooccurrence of down syndrome and fragile x syndrome.

Anderson T, Buterbaugh A, Love K, Visootsak J.

Case Rep Genet. 2013;2013:504695. doi: 10.1155/2013/504695. Epub 2013 Sep 12.

25.

Noninvasive screening tools for Down syndrome: a review.

Smith M, Visootsak J.

Int J Womens Health. 2013 Mar 6;5:125-31. doi: 10.2147/IJWH.S31183. Print 2013.

26.

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus.

Alisch RS, Wang T, Chopra P, Visootsak J, Conneely KN, Warren ST.

BMC Med Genet. 2013 Jan 29;14:18. doi: 10.1186/1471-2350-14-18.

27.

Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences.

Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N.

Am J Med Genet A. 2013 Feb;161A(2):268-72. doi: 10.1002/ajmg.a.35709. Epub 2013 Jan 15.

28.

Effect of congenital heart defects on language development in toddlers with Down syndrome.

Visootsak J, Hess B, Bakeman R, Adamson LB.

J Intellect Disabil Res. 2013 Sep;57(9):887-92. doi: 10.1111/j.1365-2788.2012.01619.x. Epub 2012 Sep 24.

29.

Diagnosis of fragile X syndrome: a qualitative study of African American families.

Visootsak J, Charen K, Rohr J, Allen E, Sherman S.

J Genet Couns. 2012 Dec;21(6):845-53. doi: 10.1007/s10897-011-9454-x. Epub 2011 Dec 2.

30.

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.

Visootsak J, Mahle WT, Kirshbom PM, Huddleston L, Caron-Besch M, Ransom A, Sherman SL.

Am J Med Genet A. 2011 Nov;155A(11):2688-91. doi: 10.1002/ajmg.a.34252. Epub 2011 Sep 19.

31.

Developmental outcomes of Down syndrome and Dandy-Walker malformation.

Love K, Huddleston L, Olney P, Wrubel D, Visootsak J.

J Pediatr Neurol. 2011 Jan 1;9(3):405-408.

32.

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Visootsak J, Graham JM Jr.

Dev Disabil Res Rev. 2009;15(4):328-32. doi: 10.1002/ddrr.76.

33.

Advances in the treatment of fragile X syndrome.

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M.

Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317. Review.

34.

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE.

Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553.

35.

Brain magnetic resonance imaging findings in 49,XXXXY syndrome.

Hoffman TL, Vossough A, Ficicioglu C, Visootsak J.

Pediatr Neurol. 2008 Jun;38(6):450-3. doi: 10.1016/j.pediatrneurol.2008.03.004.

36.

A new look at XXYY syndrome: medical and psychological features.

Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R.

Am J Med Genet A. 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366.

37.

Fragile X syndrome.

Garber KB, Visootsak J, Warren ST.

Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Review.

38.

Prader-Willi syndrome: an update and review for the primary pediatrician.

Chen C, Visootsak J, Dills S, Graham JM Jr.

Clin Pediatr (Phila). 2007 Sep;46(7):580-91. Epub 2007 May 23. Review.

PMID:
17522286
39.

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY.

Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr.

Am J Med Genet A. 2007 Jun 1;143A(11):1198-203.

PMID:
17497714
40.

Neuropsychiatric and behavioral aspects of trisomy 21.

Visootsak J, Sherman S.

Curr Psychiatry Rep. 2007 Apr;9(2):135-40. Review.

PMID:
17389125
41.

Klinefelter syndrome and other sex chromosomal aneuploidies.

Visootsak J, Graham JM Jr.

Orphanet J Rare Dis. 2006 Oct 24;1:42. Review.

42.

Turner syndrome: an update and review for the primary pediatrician.

Doswell BH, Visootsak J, Brady AN, Graham JM Jr.

Clin Pediatr (Phila). 2006 May;45(4):301-13. Review.

PMID:
16703153
43.

Fragile X syndrome: an update and review for the primary pediatrician.

Visootsak J, Warren ST, Anido A, Graham JM Jr.

Clin Pediatr (Phila). 2005 Jun;44(5):371-81. Review.

PMID:
15965543
44.

Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype?

Wang R, Visootsak J, Danielpour M, Graham JM Jr.

J Pediatr. 2005 Apr;146(4):537-41.

PMID:
15812461
45.

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

Graham JM Jr, Rosner B, Dykens E, Visootsak J.

Am J Med Genet A. 2005 Mar 15;133A(3):240-7.

PMID:
15637708
46.

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM.

J Pediatr. 2004 Dec;145(6):819-25.

PMID:
15580208
47.

22q13 deletion syndrome: an update and review for the primary pediatrician.

Havens JM, Visootsak J, Phelan MC, Graham JM Jr.

Clin Pediatr (Phila). 2004 Jan-Feb;43(1):43-53. Review.

PMID:
14968892
48.

Klinefelter syndrome and its variants: an update and review for the primary pediatrician.

Visootsak J, Aylstock M, Graham JM Jr.

Clin Pediatr (Phila). 2001 Dec;40(12):639-51. Review.

PMID:
11771918

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