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There are 18678 results for: content related to: Genetic heterogeneity in Pakistani microcephaly families

  1. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 353–358, CA Tan, D. del Gaudio, M.A. Dempsey, K. Arndt, S. Botes, A. Reeder and S. Das

    Version of Record online : 13 MAY 2013, DOI: 10.1111/cge.12172

  2. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 532–540, V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari and A Kumar

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01686.x

  3. Genetic heterogeneity in Pakistani microcephaly families revisited

    Clinical Genetics

    Accepted manuscript online: 22 DEC 2016, I. Ahmad, S.M. Baig, A.R. Abdulkareem, M.S. Hussain, I. Sur, M.R. Toliat, G. Nürnberg, N. Dalibor, A. Moawia, S.S. Waseem, M. Asif, H. Nagra, M. Sher, M.M. Ali Khan, I. Hassan, S. ur Rehman, H. Thiele, J. Altmüller, A.A. Noegel and P Nürnberg

    DOI: 10.1111/cge.12955

  4. Genetic causes of microcephaly and lessons for neuronal development

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 4, July/August 2013, Pages: 461–478, Edward C. Gilmore and Christopher A. Walsh

    Version of Record online : 4 OCT 2012, DOI: 10.1002/wdev.89

  5. Genetic causes of MCPH in consanguineous Pakistani families

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 744–745, Nadine Kraemer, Sylvie Picker-Minh, Ansar A. Abbasi, Sebastian Fröhler, Olaf Ninnemann, Muhammad N. Khan, Ghazanfar Ali, Wei Chen and Angela M. Kaindl

    Version of Record online : 8 NOV 2015, DOI: 10.1111/cge.12685

  6. Compound heterozygous ASPM mutations in Pakistani MCPH families

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 926–930, Farooq Muhammad, Shahid Mahmood Baig, Lars Hansen, Muhammad Sajid Hussain, Iram Anjum Inayat, Muhammad Aslam, Javed Anver Qureshi, Muhammad Toilat, Elisabeth Kirst, Muhammad Wajid, Peter Nürnberg, Hans Eiberg, Niels Tommerup and Klaus W. Kjaer

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32749

  7. WDR62 missense mutation in a consanguineous family with primary microcephaly

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 622–625, Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska and Penelope E. Bonnen

    Version of Record online : 3 FEB 2012, DOI: 10.1002/ajmg.a.34417

  8. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 488–490, E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H-H Ropers and H Najmabadi

    Version of Record online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01949.x

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    Volume 66, Issue 3, March 2012, Pages: 927–932, Stephen H. Montgomery and Nicholas I. Mundy

    Version of Record online : 1 DEC 2011, DOI: 10.1111/j.1558-5646.2011.01487.x

  10. You have full text access to this OnlineOpen article
    Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 288–290, F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

    Version of Record online : 23 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01901.x

  11. Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2161–2171, Cathryn J. Poulton, Rachel Schot, Katja Seufert, Maarten H. Lequin, Andrea Accogli, Giuseppe D' Annunzio, Laurent Villard, Nicole Philip, René de Coo, Coriene Catsman-Berrevoets, Ute Grasshoff, Anja Kattentidt-Mouravieva, Hans Calf, Erika de Vreugt-Gronloh, Leontine van Unen, Frans W. Verheijen, Niels Galjart, Deborah J. Morris-Rosendahl and Grazia M. S. Mancini

    Version of Record online : 19 MAY 2014, DOI: 10.1002/ajmg.a.36611

  12. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2133–2140, Mohamed S. Abdel-Hamid, Manal F. Ismail, Hebatallh A. Darwish, Laila K. Effat, Maha S. Zaki and Ghada M. H. Abdel-Salam

    Version of Record online : 2 JUN 2016, DOI: 10.1002/ajmg.a.37724

  13. You have full text access to this OnlineOpen article
    Genome-wide analysis of the oxyntic proliferative isthmus zone reveals ASPM as a possible gastric stem/progenitor cell marker over-expressed in cancer

    The Journal of Pathology

    Volume 237, Issue 4, December 2015, Pages: 447–459, Pål Vange, Torunn Bruland, Vidar Beisvag, Sten Even Erlandsen, Arnar Flatberg, Berit Doseth, Arne K Sandvik and Ingunn Bakke

    Version of Record online : 26 AUG 2015, DOI: 10.1002/path.4591

  14. ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules

    EMBO reports

    Volume 17, Issue 10, October 2016, Pages: 1396–1409, Marta Gai, Federico T Bianchi, Cristiana Vagnoni, Fiammetta Vernì, Silvia Bonaccorsi, Selina Pasquero, Gaia E Berto, Francesco Sgrò, Alessandra MA Chiotto, Laura Annaratone, Anna Sapino, Anna Bergo, Nicoletta Landsberger, Jacqueline Bond, Wieland B Huttner and Ferdinando Di Cunto

    Version of Record online : 25 AUG 2016, DOI: 10.15252/embr.201541823

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    Analysis of the Reactivity of SH-Reagents with the Mitochondrial Phosphate Carrier

    European Journal of Biochemistry

    Volume 42, Issue 1, February 1974, Pages: 135–150, Martin Klingenberg, Roger Durand and Bernard GuÉRIN

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1974.tb03323.x

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    The centrosome duplication cycle in health and disease

    FEBS Letters

    Volume 588, Issue 15, August 01, 2014, Pages: 2366–2372, Erich A. Nigg, Lukáš Čajánek and Christian Arquint

    Version of Record online : 18 JUN 2014, DOI: 10.1016/j.febslet.2014.06.030

  17. Acid Sensitive Polymeric Micelles Combining Folate and Bioreducible Conjugate for Specific Intracellular siRNA Delivery

    Macromolecular Bioscience

    Volume 16, Issue 5, May 2016, Pages: 759–773, Yanfang Yang, Xuejun Xia, Wujun Dong, Hongliang Wang, Lin Li, Panpan Ma, Wei Sheng, Xueqing Xu and Yuling Liu

    Version of Record online : 29 JAN 2016, DOI: 10.1002/mabi.201500389

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    The Importance of SH-Groups for Enzymic Activity

    European Journal of Biochemistry

    Volume 1, Issue 4, June 1967, Pages: 476–481, J. J. Holbrook, G. Pfleiderer, K. Mella, M. Volz, W. Leskowac and R. Jeckel

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1967.tb00095.x

  19. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

    Clinical Genetics

    Volume 66, Issue 4, October 2004, Pages: 341–348, A Kumar, SH Blanton, M Babu, M Markandaya and SC Girimaji

    Version of Record online : 24 AUG 2004, DOI: 10.1111/j.1399-0004.2004.00304.x

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    Pharmacogenetics of pain and analgesia

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 321–330, MT Smith and A Muralidharan

    Version of Record online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01936.x