Detalles de la búsqueda
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37864360
3.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30057031
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30569586
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28495044
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28857390
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28884975
8.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30193138
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27061338
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37361657
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22253038
12.
Early cognitive development in children with infantile Pompe disease.
Mol Genet Metab
; 105(3): 428-32, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22217428
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21826579
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21108390
15.
Behavioral, social and school functioning in children with Pompe disease.
Mol Genet Metab Rep
; 25: 100635, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32793419
16.
Novel approaches to quantify CNS involvement in children with Pompe disease.
Neurology
; 95(6): e718-e732, 2020 08 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32518148
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33211814
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19449413
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19606472
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19277853