Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Dmitriy Niyazov"'
Autor:
Dmitriy Niyazov, Jane Juusola
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101141- (2024)
Externí odkaz:
https://doaj.org/article/e2340c38044a4947b81363cf94e07a25
Autor:
Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2320-2325 (2020)
Abstract Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated fami
Externí odkaz:
https://doaj.org/article/a293335fdb084d1fa6a06c767cefacc1
Autor:
Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H Byers, David R Eyre
Publikováno v:
JBMR Plus, Vol 5, Iss 3, Pp n/a-n/a (2021)
ABSTRACT Bruck syndrome (BS) is a congenital disorder characterized by joint flexion contractures, skeletal dysplasia, and increased bone fragility, which overlaps clinically with osteogenesis imperfecta (OI). On a genetic level, BS is caused by bial
Externí odkaz:
https://doaj.org/article/fcbeeffe1c0245058fb65d53f87d3565
Autor:
Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, Katherine G. Meilleur
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint co
Externí odkaz:
https://doaj.org/article/00dd881aa9694ede8ed4875c6ede7607
Autor:
Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
Publikováno v:
American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
© 2021 American Society of Human Genetics
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
Autor:
Miikka Vikkula, Dmitriy Niyazov, Elodie Fastré, Pascal Brouillard, Michael J. Gambello, Richard Coulie
Publikováno v:
American journal of medical genetics. Part A, Vol. 185, no. 7, p. 2153-2159 (2021)
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition caused by pathogenic variants in the SOX18 gene. SOX18 plays a key role in angio- and lymphangiogenesis due to its expression in venous endothelial cells from which the lymph
Autor:
Philip J. Lupo, Megan E. Rech, Linford Williams, Suneeta Madan-Khetarpal, Veeral Shah, Erin Kovar, Gerard T. Berry, Dmitriy Niyazov, Christian P. Schaaf, Daniëlle G. M. Bosch, Charles Shaw-Smith, Jane C. Edmond, Chun-An Chen, John M. McCarthy
Publikováno v:
American Journal of Medical Genetics Part A. 182:1426-1437
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we
Autor:
Volkan Okur, Donald Basel, Martin Hermann, Ernst R. Werner, Wendy K. Chung, Katrin Watschinger, Dmitriy Niyazov, Julie McCarrier
Publikováno v:
Human Genetics. 138:1259-1266
Alkylglycerol monooxygenase (AGMO) is the only enzyme known to cleave the O-alkyl bonds of ether lipids (alkylglycerols) which are essential components of cell membranes. A homozygous frameshift variant [p.(Glu324LysfsTer12)] in AGMO has recently bee
Autor:
Jennifer A. Lee, Carlos Ferreira, Kym M. Boycott, Lina Basel-Salmon, Yue Si, Richard E. Person, Michael J. Lyons, Melissa T. Carter, Dmitriy Niyazov, Claudia Gonzaga-Jauregui, Renee Bend, Erin Torti, Lior Cohen, Samantha K Rojas, Ingrid M. Wentzensen, Mohamad A. Mikati
Publikováno v:
European Journal of Human Genetics
PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in
Autor:
Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten
Publikováno v:
CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006
https://hdl.handle.net/1887/3213006