Detalhe da pesquisa
1.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Mol Genet Metab
; 141(2): 108119, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184429
2.
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
Am J Med Genet C Semin Med Genet
; 193(4): e32070, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864360
3.
Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.
Am J Med Genet A
; 179(1): 85-93, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569586
4.
Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.
Mol Genet Metab
; 121(2): 127-137, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495044
5.
Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.
Am J Med Genet A
; 173(11): 3058-3066, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28857390
6.
Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.
Am J Med Genet A
; 173(11): 3029-3041, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884975
7.
Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.
Am J Med Genet A
; 170(6): 1545-55, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061338
8.
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.
Clin Case Rep
; 11(6): e7371, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37361657
9.
Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.
Am J Med Genet C Semin Med Genet
; 160C(1): 22-9, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253038
10.
Early cognitive development in children with infantile Pompe disease.
Mol Genet Metab
; 105(3): 428-32, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22217428
11.
Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.
J Genet Couns
; 21(1): 59-71, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21826579
12.
Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.
Am J Med Genet A
; 152A(12): 3028-35, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108390
13.
Behavioral, social and school functioning in children with Pompe disease.
Mol Genet Metab Rep
; 25: 100635, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793419
14.
Novel approaches to quantify CNS involvement in children with Pompe disease.
Neurology
; 95(6): e718-e732, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518148
15.
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Am J Intellect Dev Disabil
; 125(6): 475-480, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33211814
16.
When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.
Am J Med Genet A
; 149A(6): 1190-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449413
17.
The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.
Am J Med Genet A
; 149A(8): 1641-54, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19606472
18.
Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.
J Genet Couns
; 18(4): 313-25, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19277853
19.
Living with genetic risk: effect on adolescent self-concept.
Am J Med Genet C Semin Med Genet
; 148C(1): 56-69, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18200514
20.
Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.
J Child Adolesc Psychopharmacol
; 16(6): 755-65, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17201619