Detalhe da pesquisa
1.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genet Med
; 23(9): 1656-1663, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958749
2.
Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
Mov Disord
; 36(10): 2378-2386, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117786
3.
Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-ß-cyclodextrin injection.
Paediatr Anaesth
; 30(7): 766-772, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349180
4.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
5.
Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Am J Med Genet A
; 179(3): 503-506, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672101
6.
Importance of a specialty clinic for individuals with fragile X syndrome.
Am J Med Genet A
; 170(12): 3144-3149, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27649377
7.
Clinicians' experiences with the fragile X clinical and research consortium.
Am J Med Genet A
; 170(12): 3138-3143, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604509
8.
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome.
Pediatr Neurol
; 152: 63-72, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232652
9.
Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
Acta Paediatr
; 102(12): e546-52, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23981011
10.
Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
Am J Intellect Dev Disabil
; 128(3): 254-268, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104861
11.
FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
Am J Intellect Dev Disabil
; 128(1): 1-20, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36548377
12.
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.
Nat Med
; 29(6): 1468-1475, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291210
13.
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Hum Mol Genet
; 19(2): 299-312, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19864489
14.
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Am J Med Genet A
; 158A(9): 2297-301, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821709
15.
Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome.
J Neurosci Methods
; 371: 109501, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182604
16.
The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women.
SSM Popul Health
; 19: 101262, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238818
17.
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Contemp Clin Trials
; 114: 106704, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149233
18.
Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
Brain Sci
; 12(3)2022 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35326270
19.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Acta Neuropathol
; 122(4): 467-79, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785977
20.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
Pediatr Res
; 70(4): 375-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691246