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Items: 1 to 20 of 417

1.

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J.

Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9.

PMID:
31069901
2.

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Zonooz MF, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, Ropers HH, Kariminejad A, Najmabadi H, Kahrizi K.

Clin Genet. 2019 Jun;95(6):718-725. doi: 10.1111/cge.13549. Epub 2019 May 14.

PMID:
30950035
3.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW.

Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2083-2093. doi: 10.1016/j.bbadis.2018.12.011. Epub 2018 Dec 14.

4.

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Hosseini M, Fattahi Z, Abedini SS, Hu H, Ropers HH, Kalscheuer VM, Najmabadi H, Kahrizi K.

Am J Med Genet A. 2019 Jan;179(1):13-19. doi: 10.1002/ajmg.a.40531. Epub 2018 Dec 14.

PMID:
30549416
5.

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. doi: 10.1002/ajmg.b.32648. Epub 2018 Nov 18.

PMID:
30450701
6.

Effect of inbreeding on intellectual disability revisited by trio sequencing.

Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.

Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.

PMID:
30315573
7.

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.

Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220.

PMID:
29893856
8.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2018 May 4. doi: 10.1038/s41380-018-0065-x. [Epub ahead of print]

PMID:
29728705
9.

Genetics of intellectual disability in consanguineous families.

Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.

Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.

PMID:
29302074
10.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hübner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hübner C, Kaindl AM.

PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr.

11.

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.

Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23.

PMID:
28236339
12.

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M.

Eur J Hum Genet. 2017 Feb;25(2):253-256. doi: 10.1038/ejhg.2016.149. Epub 2016 Nov 9.

13.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM.

Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.

14.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Gräf R, van den Heuvel L, Ropers HH, Wienker TF, Hübner C, Langer T, Kaindl AM.

Elife. 2016 Aug 6;5. pii: e16078. doi: 10.7554/eLife.16078.

15.

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW.

PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May.

16.

Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.

Ropers HH, Wienker T.

Eur J Med Genet. 2015 Dec;58(12):715-8. doi: 10.1016/j.ejmg.2015.10.007. Epub 2015 Oct 24.

PMID:
26506440
17.

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.

Arch Iran Med. 2015 Oct;18(10):670-82. doi: 0151810/AIM.007.

18.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.

PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.

19.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB.

Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23.

20.

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.

Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15.

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