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Items: 1 to 20 of 56

1.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MA, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer AP, van Bokhoven H, Riazuddin S.

Mol Psychiatry. 2016 Jul 26. doi: 10.1038/mp.2016.109. [Epub ahead of print]

PMID:
27457812
2.

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2016 Jul 16;22:797-815. eCollection 2016.

3.

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

Jiao X, Kabir F, Irum B, Khan AO, Wang Q, Li D, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA.

PLoS One. 2016 Jun 21;11(6):e0157005. doi: 10.1371/journal.pone.0157005. eCollection 2016.

4.

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2016 Jun 10;22:610-25. eCollection 2016.

5.

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA.

Nat Commun. 2016 Apr 6;7:10953. doi: 10.1038/ncomms10953.

6.

Turmeric use is associated with reduced goitrogenesis: Thyroid disorder prevalence in Pakistan.

Jawa A, Jawad A, Riaz SH, Assir MZ, Akram J.

Indian J Endocrinol Metab. 2016 Jan-Feb;20(1):147. doi: 10.4103/2230-8210.172246. No abstract available.

7.

A cross-sectional assessment of primary healthcare facilities for provision of antenatal care: calling for improvements in Basic Health Units in Punjab, Pakistan.

Majrooh MA, Hasnain S, Akram J, Siddiqui A.

Health Res Policy Syst. 2015 Nov 25;13 Suppl 1:59. doi: 10.1186/s12961-015-0046-3.

8.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2015 Oct 31;21:1261-71. eCollection 2015.

9.

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiaox X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA.

PLoS One. 2015 Sep 24;10(9):e0137973. doi: 10.1371/journal.pone.0137973. eCollection 2015.

10.

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R.

PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015.

11.

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015.

12.

Turmeric use is associated with reduced goitrogenesis: Thyroid disorder prevalence in Pakistan (THYPAK) study.

Jawa A, Jawad A, Riaz SH, Assir MZ, Chaudhary AW, Zakria M, Akram J.

Indian J Endocrinol Metab. 2015 May-Jun;19(3):347-50. doi: 10.4103/2230-8210.152768.

13.

The versatility of autologous fat transplantation in correction of facial deformities: a single-center experience.

Hammer-Hansen N, Akram J, Damsgaard TE.

Plast Surg Int. 2015;2015:703535. doi: 10.1155/2015/703535. Epub 2015 Mar 3.

14.

Coverage and quality of antenatal care provided at primary health care facilities in the 'Punjab' province of 'Pakistan'.

Majrooh MA, Hasnain S, Akram J, Siddiqui A, Memon ZA.

PLoS One. 2014 Nov 19;9(11):e113390. doi: 10.1371/journal.pone.0113390. eCollection 2014.

15.

[Treatment of traumatic facial injuries.]

Anneberg M, Heje JM, Akram J.

Ugeskr Laeger. 2014 Sep 22;176(39). pii: V05140308. Danish.

PMID:
25294326
16.

Dedicated emergency departments delay surgical treatment of acute appendicitis.

Qadar SA, Maeda Y, Akram J, Madsen MR.

Dan Med J. 2014 Mar;61(3):A4791.

PMID:
24814912
17.

Clinicopathologic characteristics and outcomes of patients experiencing severe pyrimethamine poisoning.

Gasior Kabat M, Ahmad SH, Assir MZ, Ahmad HI, Akram J, Wechalekar A, Hughes D, McNamara C.

Leuk Lymphoma. 2014 Oct;55(10):2410-2. doi: 10.3109/10428194.2014.887712. Epub 2014 Mar 3. No abstract available.

PMID:
24491025
18.

An outbreak of pyrimethamine toxicity in patients with ischaemic heart disease in Pakistan.

Khan Assir MZ, Ahmad HI, Akram J, Yusuf NW, Kamran U.

Basic Clin Pharmacol Toxicol. 2014 Sep;115(3):291-6. doi: 10.1111/bcpt.12206. Epub 2014 Mar 3.

19.

Accessibility of antenatal services at primary healthcare facilities in Punjab, Pakistan.

Majrooh MA, Hasnain S, Akram J, Siddiqui A, Shah F, Memon ZA.

J Pak Med Assoc. 2013 Apr;63(4 Suppl 3):S60-6.

PMID:
24386732
20.

Effectiveness of platelet transfusion in dengue Fever: a randomized controlled trial.

Khan Assir MZ, Kamran U, Ahmad HI, Bashir S, Mansoor H, Anees SB, Akram J.

Transfus Med Hemother. 2013 Oct;40(5):362-8. doi: 10.1159/000354837. Epub 2013 Sep 11.

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