Ropers HH - Search Results

1

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: ropers hh. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.

2

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: ropers hh. 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.

3

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Moheb LA, et al. Among authors: ropers hh. Eur J Hum Genet. 2008 Feb;16(2):270-3. doi: 10.1038/sj.ejhg.5201967. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043714

4

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. Kahrizi K, et al. Among authors: ropers hh. Eur J Hum Genet. 2009 Jan;17(1):125-8. doi: 10.1038/ejhg.2008.159. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781183 Free PMC article.

5

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: ropers hh. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.

6

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: ropers hh. Arch Iran Med. 2015 Mar;18(3):179-84. Arch Iran Med. 2015. PMID: 25773692

7

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K. Jazayeri R, et al. Among authors: ropers hh. Arch Iran Med. 2015 Oct;18(10):670-82. Arch Iran Med. 2015. PMID: 26443249

8

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW. Musante L, et al. Among authors: ropers hh. Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23. Hum Mutat. 2017. PMID: 28236339

9

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: ropers hh. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856

10

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.

Musante L, Bartsch O, Ropers HH, Kalscheuer VM. Musante L, et al. Among authors: ropers hh. Gene. 2004 May 12;332:119-27. doi: 10.1016/j.gene.2004.02.044. Gene. 2004. PMID: 15145061

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