Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Syeda Seema, Waseem"'
Autor:
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which mak
Externí odkaz:
https://doaj.org/article/86efdf4d011a4c569530b984fe472c83
Autor:
Shumaila Zulfiqar, Abubakar Moawia, Syeda Seema Waseem, Zafar Ali, Shafaq Ramzan, Iram Anjum, Shahid Mahmood Baig, Muhammad Tariq
Publikováno v:
International Journal of Neuroscience. :1-6
Cockayne syndrome (CS) is a rare neurodegenerative disorder characterized by impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity. Complementation assays identify two groups of this disorder, CS type I (CSA) and CS t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed21a7919dcdb528e5ad7700f365ba12
https://doi.org/10.1080/00207454.2022.2082967
https://doi.org/10.1080/00207454.2022.2082967
Rare genetic disorders affect a significant proportion of the global population. A large number of these patients are either misdiagnosed or remain undiagnosed which can have potentially adverse effects, including failure to provide anticipatory prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2fbca0a58e9e3698cabcbe88110ae99
https://doi.org/10.2174/9789815079517122010005
https://doi.org/10.2174/9789815079517122010005
Autor:
M. Asif, Ehtisham Ul Haq Makhdoom, Muhammad Tariq, Maria Iqbal, Muhammad Sajid Hussain, Shahid Mahmood Baig, Sheraz Jamal Khan, Birgit Budde, Ghulam Hussain, Wolfgang Höhne, Janine Altmüller, Stefan Höning, Muhammad Jameel, Ambrin Fatima, Sigrid Tinschert, Ayaz Khan, Iram Anjum, Emrah Kaygusuz, Syeda Seema Waseem, Hammad Yousaf, Peter Nürnberg, Uzma Abdullah, Saadia Maryam Saadi, Holger Thiele, Zafar Ali
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474865bca935a6b350b9efe1a9c23656
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf
Autor:
Ehtisham Ul Haq, Makhdoom, Syeda Seema, Waseem, Maria, Iqbal, Uzma, Abdullah, Ghulam, Hussain, Maria, Asif, Birgit, Budde, Wolfgang, Höhne, Sigrid, Tinschert, Saadia Maryam, Saadi, Hammad, Yousaf, Zafar, Ali, Ambrin, Fatima, Emrah, Kaygusuz, Ayaz, Khan, Muhammad, Jameel, Sheraz, Khan, Muhammad, Tariq, Iram, Anjum, Janine, Altmüller, Holger, Thiele, Stefan, Höning, Shahid Mahmood, Baig, Peter, Nürnberg, Muhammad Sajid, Hussain
Publikováno v:
Genes
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3051f4d716fe62e3148fd1e3eeda74c1
https://pubmed.ncbi.nlm.nih.gov/34068194
https://pubmed.ncbi.nlm.nih.gov/34068194
Autor:
Muhammad Tariq, Wajid Hussain, M. Asif, Zafar Ali, Ehtisham Ul Haq Makhdoom, Shafaq Ramzan, Stefan Höning, Emrah Kaygusuz, Shahid Mahmood Baig, Iram Anjum, Syeda Seema Waseem, Maria Iqbal, Muhammad Sajid Hussain, Muhammad Zakaria, Birgit Budde, Mehak Fiaz, Uzma Abdullah, Neelam Saba, Jamshaid Mahmood Baig, Ilyas Ahmad, Saba Irshad, Asif Mir, Angelika A. Noegel, Saif ul Haque, Abubakar Moawia, Sajida Rasool, Peter Nürnberg
Publikováno v:
Molecular Genetics & Genomic Medicine. 8
Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it sui
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0958e6be139aa8d7b8123d4d2c402a93
https://doi.org/10.1002/mgg3.1408
https://doi.org/10.1002/mgg3.1408
Autor:
Larissa Kerecuk, Tilman Jobst-Schwan, Weizhen Tan, Khalid A. Alhasan, Mais Hashem, Shrikant Mane, Jonathan Marquez, Seema Hashmi, Shahid Mahmood Baig, Svjetlana Lovric, Heon Yung Gee, Kaitlyn Eddy, Johanna Magdalena Schmidt, Sara Gonçalves, Jillian K. Warejko, Ayaz Khan, Mustafa K. Khokha, Charlotte A. Hoogstraten, Hannah Hugo, Mercedes Ubetagoyena, Birgit Budde, M. Asif, Amar J. Majmundar, Jennifer A. Lawson, Qian Shen, Gema Ariceta, Angelika A. Noegel, Tobias Hermle, Eugen Widmeier, Susanne Motameny, Nilufar Mohebbi, Friedhelm Hildebrandt, Janine Altmüller, Richard P. Lifton, Kathrin Schrage, Thomas M. Kitzler, Muhammad Sajid Hussain, Amy Kolb, Hanan M. Fathy, Arwa Ishaq A. Khayyat, Ankana Daga, Robert B. Ettenger, David Schapiro, Daniela A. Braun, Erkin Serdaroglu, Shirlee Shril, Hong Xu, Syeda Seema Waseem, Fowzan S. Alkuraya, Jia Rao, Ronen Schneider, C. Patrick Lusk, Daniel P. Gale, Corinne Antignac, Peter Nürnberg, Wolfram Antonin, Shazia Ashraf, Abubakar Moawia
Publikováno v:
Journal of Clinical Investigation, 128, 10, pp. 4313-4328
Journal of Clinical Investigation, 128, 4313-4328
Journal of Clinical Investigation, 128, 4313-4328
Item does not contain fulltext Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6979adfd05bd79682da9891e50fcfe5b
https://doi.org/10.1172/jci98688
https://doi.org/10.1172/jci98688
Autor:
Muhammad Jameel, Kamal Khan, Ambrin Fatima, Fowzan S. Alkuraya, Ranad Shaheen, Susanne Motameny, Muhammad Sajid Hussain, Shahid Mahmood Baig, Andreas Hahn, Mohammed Al-Owain, Abubakar Moawia, Saba Irshad, Birgit Budde, Farid Ullah, Petra Stöbe, Peter Nürnberg, Amit Kawalia, Angelika A. Noegel, Talia Akram, Konstanze Hörtnagel, Wolfgang Höhne, Sajida Rasool, Syeda Seema Waseem, Zafar Ali, Nour Ewida, Uzma Abdullah
Publikováno v:
Annals of Neurology. 82:562-577
Objective: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74a77d888b9164eb1f5ab99fe1fb8233
https://doi.org/10.1002/ana.25044
https://doi.org/10.1002/ana.25044
Autor:
Peter Nürnberg, Abubakar Moawia, Syeda Seema Waseem, Angelika A. Noegel, Andreas Hahn, Shahid Mahmood Baig, Muhammad Sajid Hussain, Birgit Budde
Publikováno v:
Neuropediatrics. 48:S1-S45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c808e5470b6c20fb084539051450197c
https://doi.org/10.1055/s-0037-1602886
https://doi.org/10.1055/s-0037-1602886
Autor:
A. R. Abdulkareem, Gudrun Nürnberg, S. ur Rehman, Syeda Seema Waseem, Nina Dalibor, Ilknur Sur, Miraj Mohammad Khan, Holger Thiele, Shahid Mahmood Baig, Muhammad Sher, Peter Nürnberg, Janine Altmüller, H. Nagra, Ishtiaq Hassan, Mohammad R. Toliat, Abubakar Moawia, M. Asif, Angelika A. Noegel, Ilyas Ahmad, Muhammad Sajid Hussain
Publikováno v:
Clinical Genetics. 92:62-68
Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2875e599673643e995a1c11f9d3f6a89
https://doi.org/10.1111/cge.12955
https://doi.org/10.1111/cge.12955