Detalhe da pesquisa
1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582359
2.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
3.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952832
4.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
5.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clin Genet
; 101(2): 247-254, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708404
6.
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Prenat Diagn
; 42(6): 725-735, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918830
7.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
8.
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Clin Genet
; 99(2): 303-308, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131077
9.
Passive Transfer of Blood Sera from ALS Patients with Identified Mutations Results in Elevated Motoneuronal Calcium Level and Loss of Motor Neurons in the Spinal Cord of Mice.
Int J Mol Sci
; 22(18)2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576165
10.
Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients.
Int J Mol Sci
; 21(15)2020 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32756522
11.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214448
12.
Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients.
Int J Mol Sci
; 20(10)2019 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130623
13.
Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
BMC Med Genet
; 18(1): 27, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28298193
14.
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome]. / Rekurrens európai misszensz mutáció egy magyar Papillon-Lefèvre szindrómában szenvedo családban.
Fogorv Sz
; 107(3): 87-92, 2014 Sep.
Artigo
em Húngaro
| MEDLINE | ID: mdl-25509509
15.
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Clin Transl Allergy
; 13(11): e12317, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006386
16.
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Front Genet
; 10: 732, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31475037
17.
Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses.
Brain Behav
; 9(6): e01293, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025543
18.
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
Neurobiol Aging
; 53: 195.e1-195.e5, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28222900
19.
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Eur J Med Res
; 22(1): 20, 2017 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28629449
20.
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Brain Behav
; 7(4): e00669, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413711