Detalhe da pesquisa
1.
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Am J Hum Genet
; 105(2): 425-433, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31327510
2.
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Am J Med Genet A
; 188(3): 858-866, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35148024
3.
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Clin Genet
; 99(1): 111-118, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32783189
4.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31723249
5.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28735298
6.
SCN3A deficiency associated with increased seizure susceptibility.
Neurobiol Dis
; 102: 38-48, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28235671
7.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genet Med
; 19(4): 412-420, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27657687
8.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27358180
9.
Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 174(8): 772-778, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28856789
10.
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Acta Neuropathol
; 131(4): 621-37, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26659577
11.
De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.
Prenat Diagn
; 41(1): 11-14, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32681669
12.
DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.
Genes (Basel)
; 14(10)2023 10 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37895289
13.
Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome.
Genes (Basel)
; 14(2)2023 02 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36833432
14.
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
Am J Med Genet A
; 158A(12): 3201-6, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23169702
15.
Mild cognitive impairment identified in older individuals with Down syndrome by reduced telomere signal numbers and shorter telomeres measured in microns.
Am J Med Genet B Neuropsychiatr Genet
; 159B(5): 598-604, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22592955
16.
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34716203
17.
Height and BMI in fragile X syndrome: A longitudinal assessment.
Obesity (Silver Spring)
; 30(3): 743-750, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35174658
18.
FMR1 and Autism, an Intriguing Connection Revisited.
Genes (Basel)
; 12(8)2021 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34440392
19.
Pharmacological inhibition of the primary endocannabinoid producing enzyme, DGL-α, induces autism spectrum disorder-like and co-morbid phenotypes in adult C57BL/J mice.
Autism Res
; 14(7): 1375-1389, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33886158
20.
Pharmacological inhibition of BKCa channels induces a specific social deficit in adult C57BL6/J mice.
Behav Neurosci
; 135(4): 462-468, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33734729