Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Nature
; 623(7988): 772-781, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968388
3.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
4.
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.
Nucleic Acids Res
; 48(17): 9804-9821, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816001
5.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet
; 28(4): 598-614, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335141
6.
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Clin Genet
; 99(1): 187-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895917
7.
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Mol Cell
; 50(6): 831-43, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23685073
8.
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
9.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
10.
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet
; 98(5): 507-514, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799315
11.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
12.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
13.
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Hum Mutat
; 40(8): 1057-1062, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033088
14.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
15.
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Clin Genet
; 95(6): 718-725, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30950035
16.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet
; 95(1): 151-159, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315573
17.
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.
Am J Med Genet A
; 179(1): 13-19, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549416
18.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166480
19.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
20.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain
; 140(11): 2879-2894, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053855