Zobrazeno 1 - 10
of 525
pro vyhledávání: '"K, Zalewski"'
Autor:
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background and importance Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infanc
Externí odkaz:
https://doaj.org/article/2391a5ad25bb493fb9a27fe1f7e22717
Autor:
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goi
Externí odkaz:
https://doaj.org/article/a1762e3b69644b61a4f412a1d20d7f56
Autor:
Hannah P. Famili, Christopher K. Zalewski, Alaaddin Ibrahimy, Jessica Mack, Fredric Cantor, John D. Heiss, Carmen C. Brewer
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 8; Pages: 2767
Chiari Malformation Type I (CM1) is a neurological condition in which the cerebellar tonsils extend past the foramen magnum. While many studies have reported dizziness symptoms in patients with CM1, the prevalence of peripheral labyrinthine lesions i
Autor:
Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v:
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Autor:
Debamitra Das, Jenna K. Zalewski, Swarna Mohan, Timothy F. Plageman, Andrew P. VanDemark, Jeffrey D. Hildebrand
Publikováno v:
Biology Open, Vol 3, Iss 9, Pp 850-860 (2014)
Shroom3 is an actin-associated regulator of cell morphology that is required for neural tube closure, formation of the lens placode, and gut morphogenesis in mice and has been linked to chronic kidney disease and directional heart looping in humans.
Externí odkaz:
https://doaj.org/article/d3f2703cdcf4475ba53b81ed3df39e03
Autor:
Christopher K. Zalewski, Sarah Sydlowski, Simona Bianconi, An Dang Do, Carmen C. Brewer, Kelly A. King, Forbes D. Porter
Publikováno v:
Am J Med Genet A
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. Auditory characteristics of persons with SLOS have been described in limited case
Autor:
Wadih M. Zein, Carmen C. Brewer, Rabia Faridi, Talah T Wafa, Andrew J. Griffith, Julie M. Schultz, Ekaterini Tsilou, Thomas B. Friedman, Amy Turriff, Christopher K. Zalewski, Rizwan Yousaf, Robert J. Morell, Kelly A. King, Julie A. Muskett
Publikováno v:
Clinical Genetics
Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is
Autor:
F Gaba, O Blyuss, I Rodriguez, J Dilley, YL Wan, A Saiz, Z Razumova, K Zalewski, T Nikolova, I Selcuk, N Bizzarri, C Theofanakis, M Lanner, A Pletnev, M Gurumurthy, R Manchanda
Publikováno v:
Miscellaneous.
Autor:
Borek Sehnal, Martina Borčinová, Almerinda Petiz, R. Kocian, M Felsinger, Ignacio Zapardiel, R Poncová, P Kascak, R Pilka, David Cibula, S Marnitz, F. Frühauf, Jiří Jarkovský, J Klat, Aureli Torné, K Zalewski, O Arencibia-Sanchéz, Jordi Ponce, L Lay, C Köhler
Publikováno v:
Cervical cancer.
Introduction/Background* Lower-limb lymphedema (LLL) is a well-recognized adverse outcome of the surgical management of cervical cancer. Recently, sentinel lymph node (SLN) biopsy has emerged as an alternative procedure to systematic pelvic lymphaden
Autor:
Pamela A. Frischmeyer-Guerrerio, Julie Christensen, Christopher K. Zalewski, Caeden Dempsey, Carmen C. Brewer, Hung Jeffrey Kim, Jun Jeon, Alaina Magnani, Jennifer Chisholm, Marjohn Rasooly
Publikováno v:
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 166(2)
Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF-ß signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study