Detalhe da pesquisa
1.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet;
2024 May 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38787418
2.
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Clin Genet;
105(2): 173-184, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37899624
3.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A;
194(6): e63514, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38329159
4.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Clin Genet;
103(2): 167-178, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36250278
5.
X-Linked intellectual disability update 2022.
Am J Med Genet A;
191(1): 144-159, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36300573
6.
Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.
Int J Mol Sci;
24(13)2023 Jun 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37445892
7.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet;
104(4): 685-700, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30929737
8.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet;
105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31474318
9.
GM3 synthase deficiency in non-Amish patients.
Genet Med;
24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906476
10.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat;
42(7): 835-847, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33847015
11.
(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome.
J Biol Chem;
295(10): 3247-3256, 2020 03 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31996374
12.
In search of the earliest images of symmelia in works of art.
Am J Med Genet C Semin Med Genet;
187(2): 151-156, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33982428
13.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Hum Mol Genet;
28(24): 4089-4102, 2019 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31691806
14.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med;
23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33547396
15.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet;
27(4): 589-600, 2018 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29267967
16.
X-linked intellectual disability: Phenotypic expression in carrier females.
Clin Genet;
97(3): 418-425, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31705537
17.
Schimke XLID syndrome results from a deletion in BCAP31.
Am J Med Genet A;
182(9): 2168-2174, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32681719
18.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Mol Cell;
48(4): 641-6, 2012 Nov 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23063529
19.
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
J Biol Chem;
293(27): 10810-10824, 2018 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29769320
20.
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Hum Mol Genet;
26(11): 2062-2075, 2017 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28369444