关注
Hossein Najmabadi
Hossein Najmabadi
在 uswr.ac.ir 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
10552011
LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors
A Mani, J Radhakrishnan, HE Wang, A Mani, MA Mani, C Nelson-Williams, ...
Science 315 (5816), 1278-1282, 2007
7032007
Thalassemia in Iran: epidemiology, prevention, and management
H Abolghasemi, A Amid, S Zeinali, MH Radfar, P Eshghi, MS Rahiminejad, ...
Journal of Pediatric Hematology/Oncology 29 (4), 233-238, 2007
3642007
Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor α in breast cancer cells
P de Souza Rocha Simonini, A Breiling, N Gupta, M Malekpour, M Youns, ...
Cancer research 70 (22), 9175-9184, 2010
3212010
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
2872012
Human male infertility caused by mutations in the CATSPER1 channel protein
MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ...
The American Journal of Human Genetics 84 (4), 505-510, 2009
2842009
Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based …
H Najmabadi, V Huang, P Yen, MN Subbarao, D Bhasin, L Banaag, ...
The Journal of Clinical Endocrinology & Metabolism 81 (4), 1347-1352, 1996
2661996
The β-thalassemia mutation spectrum in the Iranian population
H Najmabadi, R Karimi-Nejad, S Sahebjam, F Pourfarzad, S Teimourian, ...
Hemoglobin 25 (3), 285-296, 2001
2432001
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
2082007
Genetics of intellectual disability in consanguineous families
H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig, M Hosseini, C Oppitz, ...
Molecular psychiatry 24 (7), 1027-1039, 2019
2042019
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function
M Schwander, A Sczaniecka, N Grillet, JS Bailey, M Avenarius, ...
Journal of Neuroscience 27 (9), 2163-2175, 2007
2012007
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ...
The American Journal of Human Genetics 88 (2), 162-172, 2011
1842011
Genetic male infertility and mutation of CATSPER ion channels
MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ...
European Journal of Human Genetics 18 (11), 1178-1184, 2010
1842010
Identification of mutations in TRAPPC9, which encodes the NIK-and IKK-β-binding protein, in nonsyndromic autosomal-recessive mental retardation
A Mir, L Kaufman, A Noor, MM Motazacker, T Jamil, M Azam, K Kahrizi, ...
The American Journal of Human Genetics 85 (6), 909-915, 2009
1832009
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
1802008
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
1692014
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans
N Grillet, M Schwander, MS Hildebrand, A Sczaniecka, A Kolatkar, ...
The American Journal of Human Genetics 85 (3), 328-337, 2009
1622009
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
RC Wilson, S Nimkarn, M Dumic, J Obeid, M Azar, H Najmabadi, F Saffari, ...
Molecular genetics and metabolism 90 (4), 414-421, 2007
1542007
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
1522007
Iranome: a catalog of genomic variations in the Iranian population
Z Fattahi, M Beheshtian, M Mohseni, H Poustchi, E Sellars, SH Nezhadi, ...
Human mutation 40 (11), 1968-1984, 2019
1512019
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