Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hanan, Shamseldin"'
Autor:
Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan Shamseldin, Ana C. Onuchic-Whitford, Konstantin Deutsch, Thomas M. Kitzler, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Hannah Hugo, Eugen Widmeier, Weizhen Tan, Heidi L. Rehm, Shrikant Mane, Richard P. Lifton, Fowzan S. Alkuraya, Shirlee Shril, Friedhelm Hildebrandt
Publikováno v:
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
Introduction: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways. Methods: Here, we generat
Externí odkaz:
https://doaj.org/article/ac1e1122125e4dcbb6b4e8d10596a17b
Autor:
Alban Ziegler, Frédéric Ebstein, Hanan Shamseldin, Clément Prouteau, Elke Krüger, Yousef M Binamer, Dominique Bonneau, Fowzan S Alkuraya, Ludovic Martin
Publikováno v:
British Journal of Dermatology.
Keratinocyte differentiation factor (KDF)1 has been shown to cause ectodermal dysplasia with or without hidradenitis suppurativa in a single family. KDF1 is known to regulate epidermal differentiation through its interaction with IκB kinase (IKK)α.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41055f86e6aefcca81d06011efe10db1
https://doi.org/10.1093/bjd/ljad075
https://doi.org/10.1093/bjd/ljad075
Autor:
Bobby Brar, Karin Blakemore, Christine Hertenstein, Jena L. Miller, Kristen Miller, Hanan Shamseldin, Fowzan Alkuraya, Billie R. Lianoglou, Teresa N. Sparks, Mary E. Norton, Angie Jelin
Publikováno v:
American Journal of Obstetrics and Gynecology. 228:S274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c00e25acad90b798de4fd0471d308a64
https://doi.org/10.1016/j.ajog.2022.11.491
https://doi.org/10.1016/j.ajog.2022.11.491
Autor:
Francesca, Magrinelli, Elisa, Cali, Vinícius Lopes, Braga, Uluç, Yis, Hoda, Tomoum, Hanan, Shamseldin, Julian, Raiman, Christoph, Kernstock, Flávio Moura, Rezende Filho, Orlando Graziani Povoas, Barsottini, Robert W, Taylor, Elsebet, Østergaard, Abdullah, Tamim, Karin, Schäferhoff, Juliana Maria Ferraz, Sallum, Maha S, Zaki, Fernando, Kok, Kailash P, Bhatia, Bernd, Wissinger, Kate, Sergeant, Tobias B, Haack, Rita, Horvath, Semra, Hiz, Fowzan S, Alkuraya, Henry, Houlden, José Luiz, Pedroso, Reza, Maroofian
Publikováno v:
Movement disorders clinical practice. 9(2)
Biallelic loss-of-functionTo fully characterize, both phenotypically and genotypically,We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature.Nine unreported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::615e290f5480b1a41a5cb4fb645a6753
https://pubmed.ncbi.nlm.nih.gov/35141356
https://pubmed.ncbi.nlm.nih.gov/35141356
Autor:
Mohammed A, Aldahmesh, Leen Abu, Safieh, Hisham, Alkuraya, Ali, Al-Rajhi, Hanan, Shamseldin, Mais, Hashem, Fatemah, Alzahrani, Arif O, Khan, Faisal, Alqahtani, Zuhair, Rahbeeni, Mohammed, Alowain, Hanif, Khalak, Salwa, Al-Hazzaa, Brian F, Meyer, Fowzan S, Alkuraya
Publikováno v:
Molecular Vision
Purpose To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. Methods Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to sugges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c51794aa75d020cf0464cd950af85387
https://pubmed.ncbi.nlm.nih.gov/19956407
https://pubmed.ncbi.nlm.nih.gov/19956407