Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Fowzan Sami, Alkuraya"'
Autor:
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense var
Externí odkaz:
https://doaj.org/article/dcf457b6550e45488640bb16d06d46d7
Autor:
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia,
Externí odkaz:
https://doaj.org/article/31e8b21d16564a75b2b20ef07336fb0c
Autor:
Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 43-46 (2018)
Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is p
Externí odkaz:
https://doaj.org/article/f44696623d704e63a26f5153f4cb1f6f
Autor:
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 40-42 (2018)
Background: Periventricular nodular heterotopia, a common form of neuronal heterotopia, is heterogeneous in etiology. Recessive mutations in ARFGEF2 causing microcephaly and periventricular heterotopia have rarely been reported. Case Presentation: We
Externí odkaz:
https://doaj.org/article/5953b5536509463fae87bc5e1376f324
Autor:
Abubakar, Moawia, Ranad, Shaheen, Sajida, Rasool, Syeda Seema, Waseem, Nour, Ewida, Birgit, Budde, Amit, Kawalia, Susanne, Motameny, Kamal, Khan, Ambrin, Fatima, Muhammad, Jameel, Farid, Ullah, Talia, Akram, Zafar, Ali, Uzma, Abdullah, Saba, Irshad, Wolfgang, Höhne, Angelika Anna, Noegel, Mohammed, Al-Owain, Konstanze, Hörtnagel, Petra, Stöbe, Shahid Mahmood, Baig, Peter, Nürnberg, Fowzan Sami, Alkuraya, Andreas, Hahn, Muhammad Sajid, Hussain
Publikováno v:
Annals of neurology. 82(4)
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 CIT, encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ca015f57614c2abc32b0a40d9bb5246
https://pubmed.ncbi.nlm.nih.gov/28892560
https://pubmed.ncbi.nlm.nih.gov/28892560