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1.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36349505
2.
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
Int J Mol Sci
; 21(20)2020 Oct 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33086711
3.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Int J Mol Sci
; 20(16)2019 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31405222
4.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26166480
5.
The inducible costimulator augments Tc17 cell responses to self and tumor tissue.
J Immunol
; 194(4): 1737-47, 2015 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25576595
6.
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Am J Med Genet A
; 170(12): 3327-3332, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27696642
7.
The philtrum in cleft lip: review of anatomy and techniques for construction.
J Craniofac Surg
; 25(1): 9-13, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24240763
8.
Maternal attitudes to newborn screening for fragile X syndrome.
Am J Med Genet A
; 161A(2): 301-11, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23303663
9.
Optimization of 3D autologous chondrocyte-seeded polyglycolic acid scaffolds to mimic human ear cartilage.
Biomater Sci
; 11(10): 3695-3708, 2023 May 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37022673
10.
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
J Autism Dev Disord
; 53(4): 1682-1692, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34292487
11.
Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes.
Cell Rep
; 42(9): 113074, 2023 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37676766
12.
Selective subcortical contributions to gait impairments in males with the FMR1 premutation.
J Neurol Neurosurg Psychiatry
; 88(2): 188-190, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27683920
13.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Res Dev Disabil
; 131: 104338, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36179574
14.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¯579 Newborns by Using a Novel Genomic Workflow.
JAMA Netw Open
; 5(1): e2141911, 2022 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34982160
15.
Dynamic 3D Locus Organization and Its Drivers Underpin Immunoglobulin Recombination.
Front Immunol
; 11: 633705, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33679727
16.
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
Transl Psychiatry
; 10(1): 362, 2020 10 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-33116122
17.
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
Sci Rep
; 10(1): 11701, 2020 07 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32678152
18.
Comparative microanatomy of the orbicularis oris muscle between chimpanzees and humans: evolutionary divergence of lip function.
J Anat
; 214(1): 36-44, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19166471
19.
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome.
Brain Imaging Behav
; 13(4): 1128-1134, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-30046972
20.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
J Neurodev Disord
; 11(1): 41, 2019 12 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31878865