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Items: 1 to 20 of 195

1.

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, Kermani FS, 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. 2018 Oct 12. doi: 10.1111/cge.13463. [Epub ahead of print]

PMID:
30315573
2.

High expression of miR-510 was associated with CGG expansion located at upstream of FMR1 into full mutation.

Fazeli Z, Ghaderian SMH, Najmabadi H, Omrani MD.

J Cell Biochem. 2018 Aug 30. doi: 10.1002/jcb.27505. [Epub ahead of print]

PMID:
30160796
3.

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC.

PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone.0201713. eCollection 2018.

4.

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
5.

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ.

J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.

PMID:
29703829
6.

Calpains: Diverse Functions but Enigmatic.

Hosseini M, Najmabadi H, Kahrizi K.

Arch Iran Med. 2018 Apr 1;21(4):170-179. Review.

7.

Intellectual Disability and Ataxia: Genetic Collisions.

Kazeminasab S, Najmabadi H, Kahrizi K.

Arch Iran Med. 2018 Jan 1;21(1):29-40. Review.

8.

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.

Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F.

Gene. 2018 Jun 15;659:160-167. doi: 10.1016/j.gene.2018.03.044. Epub 2018 Mar 15.

PMID:
29551499
9.

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M.

Blood Cells Mol Dis. 2018 Jul;71:39-44. doi: 10.1016/j.bcmd.2018.02.002. Epub 2018 Feb 22.

PMID:
29499877
10.

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.

Alavi A, Esmaeili S, Nafissi S, Kahrizi K, Najmabadi H.

Neuromuscul Disord. 2018 Apr;28(4):303-314. doi: 10.1016/j.nmd.2018.01.001. Epub 2018 Jan 12.

PMID:
29402602
11.

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. 2018 Jan 4. doi: 10.1038/s41380-017-0012-2. [Epub ahead of print]

PMID:
29302074
12.

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB.

Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.

13.

SLC52A2 mutations cause SCABD2 phenotype: A second report.

Babanejad M, Adeli OA, Nikzat N, Beheshtian M, Azarafra H, Sadeghnia F, Mohseni M, Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:195-199. doi: 10.1016/j.ijporl.2017.11.014. Epub 2017 Nov 20.

PMID:
29287867
14.

Exonic mutations and exon skipping: Lessons learned from DFNA5.

Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ.

Hum Mutat. 2018 Mar;39(3):433-440. doi: 10.1002/humu.23384. Epub 2018 Jan 11.

PMID:
29266521
15.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A.

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.

16.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
17.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S.

Arch Iran Med. 2017 Sep;20(9):617-620. doi: 0172009/AIM.0010.

18.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W.

Am J Hum Genet. 2017 Sep 7;101(3):326-339. doi: 10.1016/j.ajhg.2017.07.012. Epub 2017 Aug 24.

19.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J.

Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.

20.

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.

Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F.

J Neurogenet. 2017 Sep;31(3):161-169. doi: 10.1080/01677063.2017.1346093. Epub 2017 Jul 7.

PMID:
28687063

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