Detalhe da pesquisa
1.
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.
Clin Genet
; 105(4): 386-396, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38151336
2.
Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.
Am J Med Genet A
; : e63625, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741340
3.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
4.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
5.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822643
6.
SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
J Neurophysiol
; 127(5): 1388-1397, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417276
7.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
8.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661771
9.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
10.
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Neurogenetics
; 22(4): 263-269, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218362
11.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
12.
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Clin Genet
; 99(3): 335-346, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179249
13.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
14.
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.
Am J Med Genet A
; 170(11): 2984-2987, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27542115
15.
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
Epilepsia Open
; 8(2): 497-508, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896643
16.
Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.
Seizure
; 110: 212-219, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429183
17.
De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy.
Sci Rep
; 12(1): 17182, 2022 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229510
18.
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
J Neurol
; 269(4): 2162-2171, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537872
19.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Nat Commun
; 13(1): 6595, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329026
20.
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Clin Park Relat Disord
; 5: 100114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816117