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Items: 1 to 50 of 71


Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA.

Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun.


Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families.

Sawal HA, Harripaul R, Mikhailov A, Vleuten K, Naeem F, Nasr T, Hassan MJ, Vincent JB, Ayub M, Rafiq MA.

J Pediatr Genet. 2018 Jun;7(2):60-66. doi: 10.1055/s-0037-1612591. Epub 2017 Dec 21.


Diagnostic challenges of tubercular lesions of breast.

Jairajpuri ZS, Jetley S, Rana S, Khetrapal S, Khan S, Hassan MJ.

J Lab Physicians. 2018 Apr-Jun;10(2):179-184. doi: 10.4103/JLP.JLP_26_17.


Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA.

BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x.


Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ.

Saudi Med J. 2017 Dec;38(12):1190-1195. doi: 10.15537/smj.2017.12.20989.


Isolated lingual cysticercosis: A rare case diagnosed on cytology.

Pujani M, Hassan MJ, Khan S, Jetley S.

Diagn Cytopathol. 2018 Mar;46(3):277-279. doi: 10.1002/dc.23828. Epub 2017 Oct 10.


Clinicopathological Study of Eosinophilic Cholecystitis: Five Year Single Institution Experience.

Khan S, Hassan MJ, Jairajpuri ZS, Jetley S, Husain M.

J Clin Diagn Res. 2017 Aug;11(8):EC20-EC23. doi: 10.7860/JCDR/2017/27886.10427. Epub 2017 Aug 1.


Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA.

Neurol Genet. 2017 Sep 22;3(5):e189. doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct. No abstract available.


A study of ticks and tick-borne livestock pathogens in Pakistan.

Karim S, Budachetri K, Mukherjee N, Williams J, Kausar A, Hassan MJ, Adamson S, Dowd SE, Apanskevich D, Arijo A, Sindhu ZU, Kakar MA, Khan RMD, Ullah S, Sajid MS, Ali A, Iqbal Z.

PLoS Negl Trop Dis. 2017 Jun 26;11(6):e0005681. doi: 10.1371/journal.pntd.0005681. eCollection 2017 Jun.


Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA.

Neurol Genet. 2017 May 23;3(3):e156. doi: 10.1212/NXG.0000000000000156. eCollection 2017 Jun. No abstract available.


Unusual Histology in Hodgkin's Lymphoma: Report of an Interesting Case.

Jetley S, Khetrapal S, Pujani M, Hassan MJ, Jain A.

Indian J Surg Oncol. 2017 Jun;8(2):181-184. doi: 10.1007/s13193-016-0602-5. Epub 2016 Dec 9.


Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

Dad R, Malik U, Javed A, Minassian BA, Hassan MJ.

Gene. 2017 Aug 30;626:258-263. doi: 10.1016/j.gene.2017.05.041. Epub 2017 May 20.


Adnexal Tumors of Skin: An Experience at a Tertiary Care Center at Delhi.

Pujani M, Madaan GB, Jairajpuri ZS, Jetley S, Hassan MJ, Khan S.

Ann Med Health Sci Res. 2016 Sep-Oct;6(5):280-285. doi: 10.4103/amhsr.amhsr_339_14.


Coexistence of tuberculosis and malignancy: a mere coincidence or a causal association.

Pujani M, Jairajpuri ZS, Khan S, Hassan MJ, Jetley S, Rana S.

Trop Doct. 2017 Apr;47(2):101-104. doi: 10.1177/0049475516652316. Epub 2016 Jul 10.


Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ.

J Neurol Sci. 2017 Apr 15;375:281. doi: 10.1016/j.jns.2017.02.010. Epub 2017 Feb 12. No abstract available.


Clinical and genetic studies in patients with Lafora disease from Pakistan.

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ.

J Neurol Sci. 2017 Feb 15;373:263-267. doi: 10.1016/j.jns.2017.01.010. Epub 2017 Jan 4. Erratum in: J Neurol Sci. 2017 Apr 15;375:281.


Erratum to: Clinical role of HER2 gene amplification and chromosome 17: a study on 154 IHC-equivocal cases of invasive breast carcinoma patients.

Afzal M, Amir M, Hassan MJ, Hussain MS, Aziz MN, Murad S, Murtaza I, Anees M, Sultan A.

Tumour Biol. 2016 Nov;37(11):15341. No abstract available.


An Incidental Primary Papillary Carcinoma Arising in a Thyroglossal Duct Cyst: Report of a Rare Finding.

Hassan MJ, Rana S, Khan S, Jairajpuri ZS, Monga S, Jain A, Jetley S.

J Lab Physicians. 2016 Jan-Jun;8(1):62-4. doi: 10.4103/0974-2727.176236.


Atypical fibroxanthoma in a young female misdiagnosed clinically as a malignant melanoma--An unusual presentation.

Pujani M, Hassan MJ, Jetley S.

J Cancer Res Ther. 2015 Oct-Dec;11(4):1027. doi: 10.4103/0973-1482.150353.


A Critical Appraisal of the Spectrum of Image Guided Fine Needle Aspiration Cytology: A Three Year Experience from a Tertiary Care Centre in Delhi.

Pujani M, Jetley S, Jairajpuri ZS, Khan S, Hassan MJ, Rana S, Kumar M.

Turk Patoloji Derg. 2016;32(1):27-34. doi: 10.5146/tjpath.2015.01339.


Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM.

Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.


Clinical role of HER2 gene amplification and chromosome 17: a study on 154 IHC-equivocal cases of invasive breast carcinoma patients.

Afzal M, Amir M, Hassan MJ, Hussain MS, Aziz MN, Murad S, Murtaza I, Anees M, Sultan A.

Tumour Biol. 2016 Jul;37(7):8665-72. doi: 10.1007/s13277-015-4657-7. Epub 2016 Jan 6. Erratum in: Tumour Biol. 2016 Sep 30;:.


Cystic Change in Pleomorphic Adenoma: A Rare Finding and a Diagnostic Dilemma.

Khetrapal S, Jetley S, Hassan MJ, Jairajpuri Z.

J Clin Diagn Res. 2015 Nov;9(11):ED07-8. doi: 10.7860/JCDR/2015/14101.6764. Epub 2015 Nov 1.


Primary Endometrial Squamous Cell Carcinoma In Situ: Report of a rare disease.

Jetley S, Jairajpuri ZS, Hassan MJ, Madaan G, Jain R.

Sultan Qaboos Univ Med J. 2015 Nov;15(4):e559-62. doi: 10.18295/squmj.2015.15.04.021. Epub 2015 Nov 23.


Coexistence of metastatic breast carcinoma and primary tuberculosis in axillary lymph nodes: a report of a rare case.

Pujani M, Khan S, Hassan MJ, Jetley S, Raina PK.

Breast Dis. 2015;35(3):195-8. doi: 10.3233/BD-150405.


Association between tumour necrosis-α gene polymorphisms and acne vulgaris in a Pakistani population.

Aisha NM, Haroon J, Hussain S, Tahir CM, Ikramullah M, Rahim H, Kishwar N, Younis S, Hassan MJ, Javed Q.

Clin Exp Dermatol. 2016 Apr;41(3):297-301. doi: 10.1111/ced.12757. Epub 2015 Sep 16.


In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.

Ullah MI, Ahmad A, Raza SI, Amar A, Ali A, Bhatti A, John P, Mohyuddin A, Ahmad W, Hassan MJ.

Neurogenetics. 2015 Oct;16(4):299-306. doi: 10.1007/s10048-015-0453-1. Epub 2015 Jul 24.


Papillary cystic variant of acinic cell carcinoma presenting as parotid tail tumor.

Khan S, Pujani M, Hassan MJ, Jetley S.

Int J Appl Basic Med Res. 2015 May-Aug;5(2):139-41. doi: 10.4103/2229-516X.157171.


Various fractions of Hypericum x moserianum and Hypericum ericoides possess antiglycation, anti-lipid peroxidation, antioxidative activities and non-toxic effects in vitro.

Abbas G, Shahzad M, Saddiqe Z, Hassan MJ, Saba S, Rafique J, Malik R, Hussain H.

Pak J Pharm Sci. 2015 May;28(3):933-8.


Hepatic tuberculosis mimicking metastasis in a case of carcinoma sigmoid colon.

Husain M, Khan S, Hassan MJ.

J Lab Physicians. 2015 Jan-Jun;7(1):64-6. doi: 10.4103/0974-2727.154802.


Cellular leiomyoma versus endometrial stromal tumor: A pathologists' dilemma.

Pujani M, Jairajpuri ZS, Rana S, Jetley S, Hassan MJ, Jain R.

J Midlife Health. 2015 Jan-Mar;6(1):31-4. doi: 10.4103/0976-7800.153619.


Malignant Melanoma Presenting as a Mediastinal Malignant Melanoma Presenting as a Mediastinal Unknown Primary Origin?

Pujani M, Hassan MJ, Jetley S, Raina PK, Kumar M.

Turk Patoloji Derg. 2017;33(2):168-170. doi: 10.5146/tjpath.2014.01290.


Extramedullary plasmacytoma of the thyroid: report of a rare case.

Hassan MJ, Khans S, Pujani M, Jetley S, Raina PK, Ahmad R.

Blood Res. 2014 Dec;49(4):280-3. doi: 10.5045/br.2014.49.4.280. Epub 2014 Dec 23. No abstract available.


Gall bladder lymphoid hyperplasia: masquerading as lymphoma.

Rana S, Jairajpuri ZS, Khan S, Hassan MJ, Jetley S.

J Cancer Res Ther. 2014 Jul-Sep;10(3):749-51. doi: 10.4103/0973-1482.136046.


Coexistent axillary hydatid disease and tuberculosis: Case report of an extremely rare occurrence.

Bahadur S, Pujani M, Jetley S, Hassan MJ, Khetrapal S, Husain M.

J Cytol. 2014 Jan;31(1):32-5. doi: 10.4103/0970-9371.130681.


Role of fine needle aspiration, imprint and scrape cytology in the evaluation of intraoral lesions.

Khan N, Afroz N, Haider A, Hassan MJ, Hashmi SH, Hasan SA.

J Cytol. 2013 Oct;30(4):263-9. doi: 10.4103/0970-9371.126661.


Microfilariae of wuchereria bancrofti in a patient of chylous haematuria: report of an unusual finding in urine cytology.

Hassan MJ, Jairajpuri ZS, Jetley S, Khan S, Rana S, Hussain M.

J Clin Diagn Res. 2014 Jan;8(1):153-4. doi: 10.7860/JCDR/2014/6244.3906. Epub 2014 Jan 12.


An Analysis of Hematological Parameters as a Diagnostic test for Malaria in Patients with Acute Febrile Illness: An Institutional Experience.

Jairajpuri ZS, Rana S, Hassan MJ, Nabi F, Jetley S.

Oman Med J. 2014 Jan;29(1):12-7. doi: 10.5001/omj.2014.04.


Hydatid disease in childhood: revisited report of an interesting case.

Jairajpuri ZS, Jetley S, Hassan MJ, Hussain M.

J Parasit Dis. 2012 Oct;36(2):265-8. doi: 10.1007/s12639-012-0127-y. Epub 2012 Jun 17.


Bone marrow negative visceral leishmaniasis in an adolescent male.

Jetley S, Rana S, Khan S, Zeeba J, Hassan M, Kapoor P.

Iran J Parasitol. 2013 Jan;8(1):182-5.


Incidental gall bladder carcinoma in laparoscopic cholecystectomy: a report of 6 cases and a review of the literature.

Sujata J, S R, Sabina K, Mj H, Jairajpuri ZS.

J Clin Diagn Res. 2013 Jan;7(1):85-8. doi: 10.7860/JCDR/2012/5001.2677. Epub 2012 Oct 31.


Giant Cell Fibroblastoma: A Case Report.

Hassan MJ, Ahmad SS, Hasan M, Basha M, Khurram MF.

Oman Med J. 2012 May;27(3):e037. doi: 10.5001/omj.2012.66.


CtIP Mutations Cause Seckel and Jawad Syndromes.

Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Børglum AD.

PLoS Genet. 2011 Oct;7(10):e1002310. doi: 10.1371/journal.pgen.1002310. Epub 2011 Oct 6.


Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A, Ahmad W, Ansar M.

BMC Neurol. 2011 Oct 1;11:119. doi: 10.1186/1471-2377-11-119.


Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Mahmood S, Ahmad W, Hassan MJ.

Orphanet J Rare Dis. 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. Review.


Primary peritoneal adenocarcinoma causes pleural effusion.

Shameem M, Akhtar J, Baneen U, Bhargava R, Ahmed Z, Sharma P, Khan NA, Hassan MJ.

N Am J Med Sci. 2010 Jun;2(6):281-4.


Hydatid disease of the intestine manifesting as acute abdomen: a case report.

Ahmad SS, Hassan MJ, Anees A, Rahman K, Zaheer S, Qaseem SM.

Am J Gastroenterol. 2010 Apr;105(4):961-2. doi: 10.1038/ajg.2009.671. No abstract available.


A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.

Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W.

Pediatr Dermatol. 2010 Jan-Feb;27(1):106-8. doi: 10.1111/j.1525-1470.2009.01062.x.


Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ.

Am J Hum Genet. 2009 Jul;85(1):25-39. doi: 10.1016/j.ajhg.2009.06.003. Epub 2009 Jul 2.


Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W.

Arch Dermatol Res. 2009 Sep;301(8):625-9. doi: 10.1007/s00403-009-0975-1. Epub 2009 Jun 24.


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