Detalles de la búsqueda
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37195288
2.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36044892
3.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38288683
4.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37606373
5.
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
J Allergy Clin Immunol
; 152(5): 1336-1344.e5, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37544411
6.
[Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. / Genetische Diagnostik im klinischen Alltag der Kinder- und Jugendpsychiatrie Indikationen, Rahmenbedingungen, Hürden und Lösungsvorschläge.
Z Kinder Jugendpsychiatr Psychother
; 52(1): 43-59, 2024 Jan.
Artículo
en Alemán
| MEDLINE | ID: mdl-37641943
7.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37551667
8.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36576126
9.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-35202461
10.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36868207
11.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Genet Med
; 23(8): 1492-1497, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33911214
12.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113007
13.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34163037
14.
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Clin Genet
; 99(1): 199-207, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33009816
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31723249
16.
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Kidney Int
; 96(1): 222-230, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31027891
17.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25701870
18.
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
PLoS Genet
; 10(5): e1004320, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24784135
19.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34522029
20.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 61(3): 229-33, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26607181