Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24998929
2.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
3.
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Mol Biol Rep
; 50(11): 9715-9720, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37812352
4.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29656860
5.
CCR3 gene overexpression in patients with Down syndrome.
Mol Biol Rep
; 48(6): 5335-5338, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34184200
6.
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity.
Mol Biol Rep
; 48(11): 7627-7631, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34628580
7.
Prader-Willi Syndrome with Angelman Syndrome in the Offspring.
Medicina (Kaunas)
; 57(5)2021 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34066798
8.
Long non-coding RNA GAS5 expression in patients with Down syndrome.
Int J Med Sci
; 17(10): 1315-1319, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32624686
9.
Humanin gene expression in fibroblast of Down syndrome subjects.
Int J Med Sci
; 17(3): 320-324, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32132866
10.
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Hum Genet
; 138(2): 187-198, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30656450
11.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26942287
12.
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome.
BMC Med Genet
; 20(1): 4, 2019 01 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30612561
13.
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Ann Neurol
; 83(5): 926-934, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29630738
14.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26235985
15.
Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome.
Int J Med Sci
; 15(1): 31-35, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29333085
16.
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.
Nat Methods
; 10(9): 903-9, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23892896
17.
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
J Hum Genet
; 61(2): 95-101, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26490184
18.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
Am J Med Genet A
; 185(2): 608-613, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33296143
19.
Killer-specific secretory (Ksp37) gene expression in subjects with Down's syndrome.
Neurol Sci
; 37(5): 793-5, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27032399
20.
Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.
J Clin Lab Anal
; 30(3): 196-9, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25546171