Najmabadi H - Search Results

1

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.

Pashaei M, Rahimi Bidgoli MM, Zare-Abdollahi D, Najmabadi H, Haji-Seyed-Javadi R, Fatehi F, Alavi A. Pashaei M, et al. Among authors: najmabadi h. J Assist Reprod Genet. 2020 Feb;37(2):451-458. doi: 10.1007/s10815-019-01660-1. Epub 2020 Jan 8. J Assist Reprod Genet. 2020. PMID: 31916078 Free PMC article.

2

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH. Najmabadi H, et al. Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21. Hum Genet. 2007. PMID: 17120046

3

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Ropers HH, Galjart N, Najmabadi H. Larti F, et al. Among authors: najmabadi h. Eur J Hum Genet. 2015 Mar;23(3):331-6. doi: 10.1038/ejhg.2014.13. Epub 2014 Feb 26. Eur J Hum Genet. 2015. PMID: 24569606 Free PMC article.

4

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

Kahrizi K, Bazazzadegan N, Jamali L, Nikzat N, Kashef A, Najmabadi H. Kahrizi K, et al. Among authors: najmabadi h. J Genet. 2014 Dec;93(3):837-41. doi: 10.1007/s12041-014-0443-3. J Genet. 2014. PMID: 25572244 Free article. No abstract available.

5

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, Ropers HH, Kahrizi K, Najmabadi H. Oladnabi M, et al. Among authors: najmabadi h. Arch Iran Med. 2015 Mar;18(3):179-84. Arch Iran Med. 2015. PMID: 25773692

6

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H. Iqbal Z, et al. Among authors: najmabadi h. Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173967 Free PMC article.

7

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

Mehrjoo Z, Babanejad M, Kahrizi K, Najmabadi H. Mehrjoo Z, et al. Among authors: najmabadi h. J Genet. 2015 Sep;94(3):483-7. doi: 10.1007/s12041-015-0537-6. J Genet. 2015. PMID: 26440088 Free article. No abstract available.

8

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

Mehrjoo Z, Akbari MR, Abedini SS, Vaziri S, Kahrizi K, Najmabadi H. Mehrjoo Z, et al. Among authors: najmabadi h. Arch Iran Med. 2015 Oct;18(10):643-69. Arch Iran Med. 2015. PMID: 26443248

9

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium. Amos JS, et al. Among authors: najmabadi h. Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. Epub 2016 May 24. Clin Genet. 2017. PMID: 27102954

10

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: najmabadi h. Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21. Clin Genet. 2017. PMID: 27234031

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