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    • Several versions

    Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to gene

    Khan, Muzammil Ahmad
    International journal of ophthalmology, 2017, Vol.10(5), pp.826 [Peer Reviewed Journal]

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    A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

    Khan, Muzammil A
    Rupp, Verena M, Orpinell, Meritxell, Hussain, Muhammad S, Altmüller, Janine, Steinmetz, Michel O, Enzinger, Christian, Thiele, Holger, Höhne, Wolfgang, Nürnberg, Gudrun, Baig, Shahid M, Ansar, Muhammad, Nürnberg, Peter, Vincent, John B, Speicher, Michael R, Gönczy, Pierre, Windpassinger, Christian
    Human Molecular Genetics. - 2014/23/22/5940-5949
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    Title: A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
    Author: Khan, Muzammil A
    Contributor: Rupp, Verena M; Orpinell, Meritxell; Hussain, Muhammad S; Altmüller, Janine; Steinmetz, Michel O; Enzinger, Christian; Thiele, Holger; Höhne, Wolfgang; Nürnberg, Gudrun; Baig, Shahid M; Ansar, Muhammad; Nürnberg, Peter; Vincent, John B; Speicher, Michael R; Gönczy, Pierre; Windpassinger, Christian
    Description: Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including three affected individuals from a consanguineous MCPH family from Pakistan, we delineated a critical region of 18.53 Mb on Chromosome 1p21.3-1p13.1. This region contains the gene encoding HsSAS-6, a centrosomal protein primordial for seeding the formation of new centrioles during the cell cycle. Both next-generation and Sanger sequencing revealed a homozygous c.185T>C missense mutation in the HsSAS-6 gene, resulting in a p.Ile62Thr substitution within a highly conserved region of the PISA domain of HsSAS-6. This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort. Experiments in tissue culture cells revealed that the Ile62Thr mutant of HsSAS-6 is substantially less efficient than the wild-type protein in sustaining centriole formation. Together, our findings demonstrate a dramatic impact of the mutation p.Ile62Thr on HsSAS-6 function and add this component to the list of genes mutated in primary microcephaly
    Linked entry: Human Molecular Genetics. - 2014/23/22/5940-5949
    Host document: Human Molecular Genetics
    Identifier: 10.1093/hmg/ddu318 (DOI)

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    A Case of Recurrent Pasteurella Bacteremia in an Immunocompetent Patient with No Animal Bite

    Zarlasht, Fnu, Khan, Muzammil
    The American journal of case reports, 25 January 2018, Vol.19, pp.95-98 [Peer Reviewed Journal]

    • Several versions

    A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

    Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
    BMC medical genetics, 22 April 2011, Vol.12, pp.56 [Peer Reviewed Journal]

    • Several versions

    Absence of Left Circumflex Artery: A Rare Congenital Disorder of Coronary Arteries

    Ullah, Saad, Khan, Muzammil, Khan, Noman Ahmed Jang, Zeb, Hassan, Patel, Roshan
    Case Reports in Cardiology, 2017, Vol.2017, 3 pages [Peer Reviewed Journal]

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    Encephalitis treatment - a case report with long-term follow-up of EBV PCR in cerebrospinal fluid

    Zarlasht, Fnu, Salehi, Mashal, Abu-Hishmeh, Mohammad, Khan, Muzammil
    International journal of general medicine, 2017, Vol.10, pp.371-373 [Peer Reviewed Journal]

    • Several versions

    Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

    Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
    BMC medical genetics, 04 February 2016, Vol.17, pp.10 [Peer Reviewed Journal]

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    Short-Term High-Dose Steroid Therapy in a Case of Rhabdomyolysis Refractory to Intravenous Fluids

    Zarlasht, Fnu, Salehi, Mashal, Sattar, Alamgir, Abu-Hishmeh, Mohammad, Khan, Muzammil
    The American journal of case reports, 17 October 2017, Vol.18, pp.1110-1113 [Peer Reviewed Journal]
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    Title: Short-Term High-Dose Steroid Therapy in a Case of Rhabdomyolysis Refractory to Intravenous Fluids
    Author: Zarlasht, Fnu; Salehi, Mashal; Sattar, Alamgir; Abu-Hishmeh, Mohammad; Khan, Muzammil
    Subject: N-Methyl-3,4-Methylenedioxyamphetamine ; Creatine Kinase ; Rhabdomyolysis ; Glucocorticoids -- Administration & Dosage ; Methylprednisolone -- Administration & Dosage ; Rhabdomyolysis -- Drug Therapy
    Description: Patient: Male, 35
    Is part of: The American journal of case reports, 17 October 2017, Vol.18, pp.1110-1113
    Identifier: 1941-5923 (E-ISSN); 29055965 Version (PMID); 10.12659/AJCR.905196 (DOI)

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    Opana ER (Oxymorphone)–Induced Thrombotic Microangiopathy: An Atypical Presentation in a Patient With Hepatitis C

    Mehmood, Hassan, Khan, Muzammil, Marwat, Asghar, Joshi, Medha, Malhotra, Varun
    JIM - high impact case reports, 30 January 2018, Vol.6 [Peer Reviewed Journal]

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    Clostridium difficile Colitis Leading to Reactive Arthritis: A Rare Complication Associated With a Common Disease

    Marwat, Asghar, Mehmood, Hassan, Hussain, Ali, Khan, Muzammil, Ullah, Asad, Joshi, Medha
    JIM - high impact case reports, 27 March 2018, Vol.6 [Peer Reviewed Journal]