Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Genet Med
; 25(9): 100894, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183800
3.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
4.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Hum Mol Genet
; 27(18): 3177-3188, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29893856
5.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
6.
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Epilepsia
; 61(11): 2474-2485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063863
7.
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
Neuropediatrics
; 51(1): 72-75, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31627234
8.
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
PLoS Genet
; 13(4): e1006746, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28453519
9.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Am J Hum Genet
; 96(3): 386-96, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704603
10.
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Hum Mutat
; 38(6): 621-636, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28236339
11.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
12.
Genetics of recessive cognitive disorders.
Trends Genet
; 30(1): 32-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24176302
13.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
14.
Germline KRAS mutations cause Noonan syndrome.
Nat Genet
; 38(3): 331-6, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16474405
15.
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.
Hum Mutat
; 35(12): 1427-35, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219469
16.
NDST1 missense mutations in autosomal recessive intellectual disability.
Am J Med Genet A
; 164A(11): 2753-63, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125150
17.
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
Am J Med Genet A
; 161A(8): 1915-22, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23825041
18.
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Nat Genet
; 35(4): 313-5, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14634649
19.
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Genes (Basel)
; 14(2)2023 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833176
20.
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360260