Takip et
Masoud Garshasbi
Masoud Garshasbi
Associate Professor of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University
modares.ac.ir üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
H Najmabadi, H Hu, M Garshasbi, T Zemojtel, SS Abedini, W Chen, ...
Nature 478 (7367), 57-63, 2011
10272011
Mutations in NSUN2 cause autosomal-recessive intellectual disability
L Abbasi-Moheb, S Mertel, M Gonsior, L Nouri-Vahid, K Kahrizi, S Cirak, ...
The American Journal of Human Genetics 90 (5), 847-855, 2012
2812012
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis
B Timmermann, M Kerick, C Roehr, A Fischer, M Isau, ST Boerno, ...
PloS one 5 (12), e15661, 2010
2772010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ...
The American Journal of Human Genetics 86 (6), 949-956, 2010
2172010
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
MM Motazacker, BR Rost, T Hucho, M Garshasbi, K Kahrizi, R Ullmann, ...
The American Journal of Human Genetics 81 (4), 792-798, 2007
2072007
Genetic implications in the pathogenesis of rheumatoid arthritis; an updated review
J Karami, S Aslani, A Jamshidi, M Garshasbi, M Mahmoudi
Gene 702, 8-16, 2019
1832019
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
M Garshasbi, V Hadavi, H Habibi, K Kahrizi, R Kariminejad, F Behjati, ...
The American Journal of Human Genetics 82 (5), 1158-1164, 2008
1812008
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
S Türkmen, G Guo, M Garshasbi, K Hoffmann, AJ Alshalah, C Mischung, ...
PLoS genetics 5 (5), e1000487, 2009
1512009
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
H Najmabadi, MM Motazacker, M Garshasbi, K Kahrizi, A Tzschach, ...
Human genetics 121, 43-48, 2007
1512007
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
H Darvish, S Esmaeeli-Nieh, GB Monajemi, M Mohseni, ...
Journal of medical genetics 47 (12), 823-828, 2010
1222010
ST3GAL3 mutations impair the development of higher cognitive functions
H Hu, K Eggers, W Chen, M Garshasbi, MM Motazacker, K Wrogemann, ...
The American Journal of Human Genetics 89 (3), 407-414, 2011
1212011
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
F Ropers, E Derivery, H Hu, M Garshasbi, M Karbasiyan, M Herold, ...
Human molecular genetics 20 (13), 2585-2590, 2011
1012011
Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
MA Rafiq, AW Kuss, L Puettmann, A Noor, A Ramiah, G Ali, H Hu, ...
The American Journal of Human Genetics 89 (1), 176-182, 2011
982011
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
M Garshasbi, MM Motazacker, K Kahrizi, F Behjati, SS Abedini, SE Nieh, ...
Human genetics 118, 708-715, 2006
972006
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
CH Pak, M Garshasbi, K Kahrizi, C Gross, LH Apponi, JJ Noto, SM Kelly, ...
Proceedings of the National Academy of Sciences 108 (30), 12390-12395, 2011
922011
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
AW Kuss, M Garshasbi, K Kahrizi, A Tzschach, F Behjati, H Darvish, ...
Human genetics 129, 141-148, 2011
742011
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
MR Ashrafi, M Amanat, M Garshasbi, R Kameli, Y Nilipour, M Heidari, ...
Expert review of neurotherapeutics 20 (1), 65-84, 2020
682020
Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability
L Musante, L Püttmann, K Kahrizi, M Garshasbi, H Hu, H Stehr, ...
Human mutation 38 (6), 621-636, 2017
682017
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
K Kahrizi, CH Hu, M Garshasbi, SS Abedini, S Ghadami, R Kariminejad, ...
European Journal of Human Genetics 19 (1), 115-117, 2011
682011
A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family
M Garshasbi, K Kahrizi, M Hosseini, L Nouri Vahid, M Falah, S Hemmati, ...
American Journal of Medical Genetics Part A 155 (8), 1976-1980, 2011
662011
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