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Items: 1 to 20 of 69

1.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424.

PMID:
28418496
2.

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2207-2217. doi: 10.1167/iovs.17-21469.

PMID:
28418495
3.

Pectins functionalized biomaterials; a new viable approach for biomedical applications: A review.

Noreen A, Nazli ZI, Akram J, Rasul I, Mansha A, Yaqoob N, Iqbal R, Tabasum S, Zuber M, Zia KM.

Int J Biol Macromol. 2017 Aug;101:254-272. doi: 10.1016/j.ijbiomac.2017.03.029. Epub 2017 Mar 11. Review.

PMID:
28300586
4.

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Obaisi SA, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA.

PLoS One. 2017 Mar 9;12(3):e0173719. doi: 10.1371/journal.pone.0173719. eCollection 2017.

PMID:
28278293
5.

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiao 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. 2017 Jan 30;12(1):e0171403. doi: 10.1371/journal.pone.0171403. eCollection 2017.

PMID:
28135318
6.

Causes of short stature in Pakistani children found at an Endocrine Center.

Jawa A, Riaz SH, Khan Assir MZ, Afreen B, Riaz A, Akram J.

Pak J Med Sci. 2016 Nov-Dec;32(6):1321-1325. doi: 10.12669/pjms.326.11077.

PMID:
28083018
7.

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA.

PLoS One. 2016 Dec 9;11(12):e0167562. doi: 10.1371/journal.pone.0167562. eCollection 2016. Erratum in: PLoS One. 2017 Mar 9;12 (3):e0173719.

PMID:
27936067
8.

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Ullah I, Kabir F, Gottsch CB, Naeem MA, Guru AA, Ayyagari R, Khan SN, Riazuddin S, Akram J, Riazuddin SA.

Hum Genome Var. 2016 Nov 17;3:16036. eCollection 2016.

PMID:
27917291
9.

A simple integrated primary health care based model for detection of diabetic retinopathy in resource-limited settings in Pakistani population.

Jawa A, Assir MZ, Riaz SH, Chaudhary R, Awan F, Akram J.

Pak J Med Sci. 2016 Sep-Oct;32(5):1102-1106.

PMID:
27882002
10.

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA.

PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016.

PMID:
27814360
11.

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Rauf B, Irum B, Kabir F, Firasat S, Naeem MA, Khan SN, Husnain T, Riazuddin S, Akram J, Riazuddin SA.

Hum Genome Var. 2016 Aug 4;3:16021. doi: 10.1038/hgv.2016.21. eCollection 2016.

PMID:
27508083
12.

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
13.

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.

PMID:
27440997
14.

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.

PMID:
27326458
15.

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.

PMID:
27307693
16.

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.

PMID:
27218149
17.

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.

PMID:
26904486
18.

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.

PMID:
26791077
19.

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.

PMID:
26628857
20.

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiao 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. Erratum in: PLoS One. 2017 Jan 30;12 (1):e0171403.

PMID:
26402864

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