Detalhe da pesquisa
1.
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.
Am J Med Genet A
; 191(3): 870-877, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36548033
2.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
3.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
4.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
5.
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
Hum Mutat
; 39(5): 709-716, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29405539
6.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Cytogenet Genome Res
; 154(4): 187-195, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739006
7.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Clin Genet
; 103(6): 723-725, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683559
8.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Am J Med Genet A
; 176(3): 668-675, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341480
9.
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Neuropediatrics
; 49(3): 204-208, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444535
10.
[Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment]. / Hereditární formy karcinomu prsu: genetická etiologie a soucasné moznosti prevence a chirurgické lécby.
Cas Lek Cesk
; 157(2): 90-95, 2018.
Artigo
em Tcheco
| MEDLINE | ID: mdl-29790359
11.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740848
12.
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
Am J Med Genet A
; 185(5): 1363-1365, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33590706
13.
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
Clin Exp Ophthalmol
; 44(9): 757-762, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27283035
14.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Hum Mutat
; 36(11): 1080-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173643
15.
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.
Acta Neuropathol
; 139(4): 795-797, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897644
16.
Monozygotic twins with 17q21.31 microdeletion syndrome.
Twin Res Hum Genet
; 17(5): 405-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24909117
17.
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Eur J Paediatr Neurol
; 48: 17-29, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008000
18.
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Epilepsia Open
; 9(1): 424-431, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943122
19.
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.
Epilepsia Open
; 8(1): 211-216, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36504316
20.
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Mol Genet Genomic Med
; 11(6): e2154, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840359