Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
2.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
3.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
4.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
5.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
6.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
7.
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Prenat Diagn
; 42(13): 1686-1693, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403095
8.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
9.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
10.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
11.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087320
12.
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Am J Med Genet A
; 179(6): 1080-1090, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30874362
13.
Monogenic disorders that mimic the phenotype of Rett syndrome.
Neurogenetics
; 19(1): 41-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322350
14.
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
Am J Med Genet A
; 170A(5): 1330-2, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834045
15.
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Am J Med Genet A
; 170A(1): 77-86, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26394714
16.
Leukodystrophies.
Semin Neurol
; 36(4): 362-6, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27643905
17.
Clinical whole exome sequencing in child neurology practice.
Ann Neurol
; 76(4): 473-83, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131622
18.
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Am J Med Genet A
; 167A(11): 2767-76, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174511
19.
A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele.
eNeurologicalSci
; 31: 100456, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938367
20.
Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
Front Cell Neurosci
; 17: 1162363, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37435044