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Items: 1 to 20 of 42

1.

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.

Mol Psychiatry. 2017 Apr 11. doi: 10.1038/mp.2017.60. [Epub ahead of print]

PMID:
28397838
2.
3.

An SOI CMOS-Based Multi-Sensor MEMS Chip for Fluidic Applications.

Mansoor M, Haneef I, Akhtar S, Rafiq MA, De Luca A, Ali SZ, Udrea F.

Sensors (Basel). 2016 Nov 4;16(11). pii: E1608.

4.

Pairing High Piezoelectric Coefficients, d33, with High Curie Temperature (TC) in Lead-Free (K,Na)NbO3.

Rafiq MA, Costa ME, Vilarinho PM.

ACS Appl Mater Interfaces. 2016 Dec 14;8(49):33755-33764. Epub 2016 Nov 30.

PMID:
27805361
5.

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M.

J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16.

PMID:
27305979
6.

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.

Vasli N, Ahmed I, Mittal K, Ohadi M, Mikhailov A, Rafiq MA, Bhatti A, Carter MT, Andrade DM, Ayub M, Vincent JB, John P.

Psychiatr Genet. 2016 Apr;26(2):66-73. doi: 10.1097/YPG.0000000000000114.

PMID:
26529358
7.

Defects and charge transport in Mn-doped K0.5Na0.5NbO3 ceramics.

Rafiq MA, Tkach A, Costa ME, Vilarinho PM.

Phys Chem Chem Phys. 2015 Oct 7;17(37):24403-11. doi: 10.1039/c5cp02883c. Epub 2015 Sep 4.

PMID:
26339690
8.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.

BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0.

9.

Anomalous left anterior descending artery: an uncommon cause of ST elevation myocardial infarction.

Rajani AR, Rafiq MA, Mian MH, Baslaib FO.

BMJ Case Rep. 2015 May 7;2015. pii: bcr2014209221. doi: 10.1136/bcr-2014-209221.

10.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA.

Hum Mol Genet. 2015 Jun 1;24(11):3172-80. doi: 10.1093/hmg/ddv069. Epub 2015 Feb 20.

11.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG.

Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016.

12.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.

Acta Neuropsychiatr. 2015 Feb;27(1):38-47. doi: 10.1017/neu.2014.37. Epub 2014 Dec 1.

PMID:
25434728
13.

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB.

Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7.

PMID:
25098561
14.

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M.

Clin Genet. 2015 Mar;87(3):296-8. doi: 10.1111/cge.12445. Epub 2014 Jul 30. No abstract available.

PMID:
25080166
15.

Mitral valve prolapse and electrolyte abnormality: a dangerous combination for ventricular arrhythmias.

Rajani AR, Murugesan V, Baslaib FO, Rafiq MA.

BMJ Case Rep. 2014 May 14;2014. pii: bcr2014205055. doi: 10.1136/bcr-2014-205055.

16.

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC.

Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13.

17.

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB.

Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13.

PMID:
24623383
18.

Investigation of change in surface area and grain size of cadmium titanate nanofibers upon annealing and their effect on oxygen sensing.

Imran Z, Batool SS, Rafiq MA, Rasool K, Ahmad M, Shahid RN, Hasan MM.

ACS Appl Mater Interfaces. 2014 Mar 26;6(6):4542-9. doi: 10.1021/am500354a. Epub 2014 Mar 6.

PMID:
24564767
19.

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB.

Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26.

20.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.

Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):348.

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