| 1 |
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. ( 29437235
)
|
Rangel-Sosa M.M....CA^rdova-Fletes C.
|
2018 |
| 2 |
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747
)
|
Baer S....Morin G.
|
2018 |
| 3 |
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. ( 29066376
)
|
Bourque D.K....Dyment D.A.
|
2018 |
| 4 |
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859
)
|
Guissart C....KA1ry S.
|
2018 |
| 5 |
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787
)
|
Cosemans N....Peeters H.
|
2018 |
| 6 |
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. ( 28619046
)
|
Bastaki F....Hamzeh A.R.
|
2017 |
| 7 |
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. ( 27939640
)
|
Yan K....Yang X.J.
|
2017 |
| 8 |
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. ( 29031008
)
|
Abbasi A.A....Kaindl A.M.
|
2017 |
| 9 |
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. ( 28815955
)
|
Helm B.M....Schrier Vergano S.A.
|
2017 |
| 10 |
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. ( 28181389
)
|
Sheth J....Sheth F.
|
2017 |
| 11 |
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 28439095
)
|
Latypova X....Miyake N.
|
2017 |
| 12 |
Gene networks associated with non-syndromic intellectual disability. ( 29199528
)
|
Lee S....Dawson P.A.
|
2017 |
| 13 |
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. ( 28600056
)
|
Chen C.P....Wang W.
|
2017 |
| 14 |
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. ( 28119487
)
|
Lehalle D....Faivre L.
|
2017 |
| 15 |
Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 27928161
)
|
Latypova X....Miyake N.
|
2016 |
| 16 |
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. ( 27848077
)
|
Bramswig N.C....Wieczorek D.
|
2016 |
| 17 |
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474
)
|
Kharbanda M....Sepp M.
|
2016 |
| 18 |
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. ( 27452446
)
|
Naoufal R....Harbuz R.
|
2016 |
| 19 |
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. ( 27106595
)
|
Labonne J.D....Kim H.G.
|
2016 |
| 20 |
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. ( 26657932
)
|
Moncini S....Venturin M.
|
2016 |
| 21 |
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. ( 26997977
)
|
Labonne J.D....Kim H.G.
|
2016 |
| 22 |
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. ( 27375234
)
|
SzczaA8uba K....PA8oski R.
|
2016 |
| 23 |
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. ( 26751395
)
|
Isidor B....BAczieau S.
|
2016 |
| 24 |
POGZ truncating alleles cause syndromic intellectual disability. ( 26739615
)
|
White J....Sutton V.R.
|
2016 |
| 25 |
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. ( 27132593
)
|
You J....Hoover-Fong J.
|
2016 |
| 26 |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. ( 26922654
)
|
Luco S.M....Daoud H.
|
2016 |
| 27 |
IQSEC2 and X-linked syndromal intellectual disability. ( 27010919
)
|
Alexander-Bloch A.F....Sweetser D.A.
|
2016 |
| 28 |
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ( 27500536
)
|
Caro-Llopis A....Martinez F.
|
2016 |
| 29 |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. ( 27550844
)
|
Palmer E.E....Kalscheuer V.M.
|
2016 |
| 30 |
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. ( 27108999
)
|
Aggarwal S....Dalal A.
|
2016 |
| 31 |
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. ( 27620904
)
|
MartA-nez F....Orellana C.
|
2016 |
| 32 |
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516
)
|
Kernohan K.D....Chitayat D.
|
2016 |
| 33 |
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ( 27333055
)
|
Moortgat S....Maystadt I.
|
2016 |
| 34 |
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. ( 27222290
)
|
Kumar R....Gecz J.
|
2016 |
| 35 |
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. ( 26411299
)
|
Morgan A....Vozzi D.
|
2015 |
| 36 |
A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test. ( 26287547
)
|
Zhou S....Zhang K.
|
2015 |
| 37 |
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. ( 25712129
)
|
Ng C.K....Reversade B.
|
2015 |
| 38 |
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. ( 25597765
)
|
Graziano C....Seri M.
|
2015 |
| 39 |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. ( 25920557
)
|
Bronicki L.M....Aylsworth A.S.
|
2015 |
| 40 |
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. ( 25487640
)
|
Kuroda Y....Kurosawa K.
|
2015 |
| 41 |
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. ( 25527630
)
|
Figueiredo T....Santos S.
|
2015 |
| 42 |
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. ( 25846674
)
|
Thevenon J....Amiel J.
|
2015 |
| 43 |
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. ( 26571461
)
|
Mircsof D....Colleaux L.
|
2015 |
| 44 |
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population. ( 24979557
)
|
Loghmani Khouzani H....Najmabadi H.
|
2014 |
| 45 |
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. ( 24458433
)
|
MartA-nez F....Orellana C.
|
2014 |
| 46 |
Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. ( 25295072
)
|
Jun K.R....Kim H.G.
|
2014 |
| 47 |
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. ( 25281490
)
|
Cobben J.M....Yntema H.G.
|
2014 |
| 48 |
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. ( 25028595
)
|
Pinto I.P....da Cruz A.D.
|
2014 |
| 49 |
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability. ( 23826796
)
|
Al-Tawashi A....Gehring C.
|
2013 |
| 50 |
An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual Disability. ( 24324832
)
|
Falcone M....Tekin M.
|
2013 |
