Detalhe da pesquisa
1.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612693
2.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
3.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071356
4.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Nat Genet
; 56(6): 1080-1089, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684900
5.
Microdeletion 5q14.3 and anomalies of brain development.
Am J Med Genet A
; 161A(9): 2124-33, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824879
6.
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Eur J Med Genet
; 66(7): 104774, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120078
7.
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Genes (Basel)
; 13(2)2022 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205214
8.
Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?
Mov Disord
; 31(4): 491-2, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26900085
9.
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Ann Clin Transl Neurol
; 8(7): 1524-1527, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092044
10.
Lymphangioma of the fetal neck within the PIK3CA-related-overgrowth spectrum (PROS): A case report.
Clin Case Rep
; 9(7): e04527, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34306701
11.
Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.
Neurology
; 95(21): e2912-e2923, 2020 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873692
12.
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.
Clin Transl Allergy
; 9: 9, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30809376
13.
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Brain
; 130(Pt 12): 3250-64, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18055494
14.
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Hum Mutat
; 28(2): 204-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17221874
15.
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
Eur J Med Genet
; 50(5): 392-8, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17625999
16.
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
Mov Disord Clin Pract
; 9(8): 1116-1119, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36339300
17.
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Mol Genet Genomic Med
; 5(1): 21-27, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116327
18.
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
JAMA Neurol
; 74(7): 806-812, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558098
19.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Mov Disord Clin Pract
; 8(6): 972-976, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405109
20.
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
Eur J Hum Genet
; 13(1): 118-20, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15470364