Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Nurten Akarsu"'
Autor:
Hasan Hashem, Giorgia Bucciol, Seza Ozen, Sule Unal, Ikbal Ok Bozkaya, Nurten Akarsu, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Dimana Dimitrova, Dennis D. Hickstein, Amy P. Hsu, Steven M. Holland, Robert Krance, Ghadir Sasa, Ashish R. Kumar, Ingo Müller, Monica Abreu de Sousa, Selket Delafontaine, Leen Moens, Florian Babor, Federica Barzaghi, Maria Pia Cicalese, Robbert Bredius, Joris van Montfrans, Valentina Baretta, Simone Cesaro, Polina Stepensky, Neven Benedicte, Despina Moshous, Guillaume Le Guenno, David Boutboul, Jignesh Dalal, Joel P. Brooks, Elif Dokmeci, Jasmeen Dara, Carrie L. Lucas, Sophie Hambleton, Keith Wilson, Stephen Jolles, Yener Koc, Tayfun Güngör, Caroline Schnider, Fabio Candotti, Sandra Steinmann, Ansgar Schulz, Chip Chambers, Michael Hershfield, Amanda Ombrello, Jennifer A. Kanakry, Isabelle Meyts
Correction to: Journal of Clinical Immunology (2021) 41:1633–1647
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f62bcbe6405cf24fc11c69abaf87d6a9
https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf
https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf
Autor:
Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
Publikováno v:
Nature Genetics, 35(4), 318-321. Nature Publishing Group
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in
Autor:
Meral Özgüç, Ayşen Karaduman, Zihni Ekim Taskiran, Gizem Önal, Ayşe Nurten Akarsu, Ayşe Yüzbaşioğlu, Serap Dökmeci-Emre
Publikováno v:
The Turkish Journal of Pediatrics. 59:475
Dokmeci-Emre S, Taskiran ZE, Yuzbasioglu A, Onal G, Akarsu AN, Karaduman A, Ozguc M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482. Autosomal recessiv
Autor:
Tsuyoshi Ikura, Harold C. Slavkin, Lillian Shum, Jennifer A. Ayres, A. Nurten Akarsu, Glen H. Nuckolls, Katsu Takahashi, Ralph Dashner
Publikováno v:
Genomics. 77:18-26
The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible connections between DACH and in
Autor:
Aida, Semiç-Jusufagiç, Rıfat, Bircan, Özhan, Çelebiler, Melike, Erdim, Nurten, Akarsu, Nursel H, Elçioğlu
Publikováno v:
The Turkish journal of pediatrics. 54(6)
Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited
Autor:
Elif Uz, Safak Caglayan, Suleyman Gulsuner, Onur Emre Onat, Tayfun Ozcelik, Meliha Tan, Üner Tan, Nurten Akarsu
Publikováno v:
National Academy of Sciences. Proceedings
Mutations in the very low-density lipoprotein receptor VLDLR are responsible for cerebellar hypoplasia with quadrupedal gait (1). The most likely mechanism leading to this phenotype is that VLDLR deficiency in the brain at a key stage of development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::384e2d45058d019552d200f845562adf
https://hdl.handle.net/20.500.12605/19513
https://hdl.handle.net/20.500.12605/19513
Autor:
Dökmeci-Emre, Serap, Ekim Taşkıran, Zihni, Yüzbaşıoğlu, Ayşe, Önal, Gizem, Nurten Akarsu, Ayşe, Karaduman, Ayşen, Özgüç, Meral
Publikováno v:
Turkish Journal of Pediatrics; 2017, Vol. 59 Issue 4, p475-482, 8p, 3 Diagrams, 2 Charts, 1 Graph
Autor:
Altaf Hossain, Mansoor Sarfarazi, M. Erol Turaçli, S. Gulderen Aktan, B. Sitki Sayli, Magda Barsoum-Homsy, Line Chevrette, A. Nurten Akarsu
Publikováno v:
American Journal of Medical Genetics. 61:290-292
Primary congenital glaucoma (gene symbol: GLC3) is characterized by an improper development of the aqueous outflow system. The reduced outflow of fluid results in an increased intraocular pressure leading to buphthalmos, optic nerve damage, and event
Autor:
Hamza Okur, Aylin Uluşahin, A. Gögüs, Turgay Coşkun, Timur Tuncali, Suzan Özer, A. Nurten Akarsu, Semra Ulusoy
Publikováno v:
Progress in neuro-psychopharmacologybiological psychiatry. 28(2)
The vitamin D hypothesis of schizophrenia is a recent concept bringing together old observations on environmental risk factors and new findings on the neurodevelopmental effects of vitamin D. Candidate genes related to the vitamin D endocrine system
Autor:
Wai-Man Chan, A. Nurten Akarsu, V. Gagliardi, Teresa de Berardinis, Thomas M. Bosley, Koki Yamada, Timothy J. Sullivan, Joseph L. Demer, Irene Gottlob, Caroline Andrews, Sudha Awasthi-Patney, Paul B. Mullaney, Louise J. Sabol, Emin Cumhur Sener, Joseph F. Rizzo, Banu T. Öztürk, Johan Zwaan, Adriano Magli, Clara E. de Uzcategui, Marlene C. Vogel, Elizabeth C. Engle, Elias I. Traboulsi, David A. Mackey, Peter Roggenkäemper, Nicolas Uzcategui, Bruria Ben-Zeev
PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febecb33f344e22bd8c669802223272d
http://hdl.handle.net/11655/14083
http://hdl.handle.net/11655/14083