Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome
FENGXIAO BU, MAGA, Tara, MEYER, Nicole C, KAI WANG, THOMAS, Christie P, NESTER, Carla M, SMITH, Richard J. H
Published in Journal of the American Society of Nephrology (01.01.2014)
Published in Journal of the American Society of Nephrology (01.01.2014)
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Causes of Alternative Pathway Dysregulation in Dense Deposit Disease
Zhang, Yuzhou, Meyer, Nicole C, Wang, Kai, Nishimura, Carla, Frees, Kathy, Jones, Michael, Katz, Louis M, Sethi, Sanjeev, Smith, Richard J H
Published in Clinical journal of the American Society of Nephrology (01.02.2012)
Published in Clinical journal of the American Society of Nephrology (01.02.2012)
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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
Bu, Fengxiao, Borsa, Nicolo Ghiringhelli, Jones, Michael B, Takanami, Erika, Nishimura, Carla, Hauer, Jill J, Azaiez, Hela, Black-Ziegelbein, Elizabeth A, Meyer, Nicole C, Kolbe, Diana L, Li, Yingyue, Frees, Kathy, Schnieders, Michael J, Thomas, Christie, Nester, Carla, Smith, Richard J H
Published in Journal of the American Society of Nephrology (01.04.2016)
Published in Journal of the American Society of Nephrology (01.04.2016)
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Journal Article
Soluble C5b-9 as a Biomarker for Complement Activation in Atypical Hemolytic Uremic Syndrome
Bu, Fengxiao, MS, Meyer, Nicole C., BS, Zhang, Yuzhou, PhD, Borsa, Nicolo Ghiringhelli, BS, Thomas, Christie, MD, Nester, Carla, MD, Smith, Richard J.H., MD
Published in American journal of kidney diseases (01.06.2015)
Published in American journal of kidney diseases (01.06.2015)
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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein
Avenarius, Matthew R., Hildebrand, Michael S., Zhang, Yuzhou, Meyer, Nicole C., Smith, Luke L.H., Kahrizi, Kimia, Najmabadi, Hossein, Smith, Richard J.H.
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Factor H Autoantibodies and Complement-Mediated Diseases
Zhang, Yuzhou, Ghiringhelli Borsa, Nicolo, Shao, Dingwu, Dopler, Arthur, Jones, Michael B, Meyer, Nicole C, Pitcher, Gabriella R, Taylor, Amanda O, Nester, Carla M, Schmidt, Christoph Q, Smith, Richard J H
Published in Frontiers in immunology (15.12.2020)
Published in Frontiers in immunology (15.12.2020)
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PDZD7 and hearing loss: More than just a modifier
Booth, Kevin T., Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C., Tollefson, William T.A., Sloan, Christina M., Meyer, Nicole C., Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J., Najmabadi, Hossein, Smith, Richard J.H.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Complement Factor I Variants in Complement-Mediated Renal Diseases
Zhang, Yuzhou, Goodfellow, Renee X, Ghiringhelli Borsa, Nicolo, Dunlop, Hannah C, Presti, Stephen A, Meyer, Nicole C, Shao, Dingwu, Roberts, Sarah M, Jones, Michael B, Pitcher, Gabriella R, Taylor, Amanda O, Nester, Carla M, Smith, Richard J H
Published in Frontiers in immunology (10.05.2022)
Published in Frontiers in immunology (10.05.2022)
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Journal Article
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Borck, Guntram, Rehman, Atteeq Ur, Lee, Kwanghyuk, Pogoda, Hans-Martin, Kakar, Naseebullah, von Ameln, Simon, Grillet, Nicolas, Hildebrand, Michael S., Ahmed, Zubair M., Nürnberg, Gudrun, Ansar, Muhammad, Basit, Sulman, Javed, Qamar, Morell, Robert J., Nasreen, Nabilah, Shearer, A. Eliot, Ahmad, Adeel, Kahrizi, Kimia, Shaikh, Rehan S., Ali, Rana A., Khan, Shaheen N., Goebel, Ingrid, Meyer, Nicole C., Kimberling, William J., Webster, Jennifer A., Stephan, Dietrich A., Schiller, Martin R., Bahlo, Melanie, Najmabadi, Hossein, Gillespie, Peter G., Nürnberg, Peter, Wollnik, Bernd, Riazuddin, Saima, Smith, Richard J.H., Ahmad, Wasim, Müller, Ulrich, Hammerschmidt, Matthias, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Ahmad, Jamil, Kubisch, Christian
Published in American journal of human genetics (11.02.2011)
Published in American journal of human genetics (11.02.2011)
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Journal Article
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Wesemael, Maarten Van, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
Published in Human mutation (01.07.2011)
Published in Human mutation (01.07.2011)
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Journal Article
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement
Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Meyer, Nicole C., Borsa, Nicolò, Nasr, Samih H., Smith, Richard J H
Published in Kidney international (01.02.2013)
Published in Kidney international (01.02.2013)
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Journal Article
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
Bu, Fengxiao, Zhang, Yuzhou, Wang, Kai, Borsa, Nicolo Ghiringhelli, Jones, Michael B, Taylor, Amanda O, Takanami, Erika, Meyer, Nicole C, Frees, Kathy, Thomas, Christie P, Nester, Carla, Smith, Richard J H
Published in Journal of the American Society of Nephrology (01.12.2018)
Published in Journal of the American Society of Nephrology (01.12.2018)
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Journal Article
C4 Nephritic Factors in C3 Glomerulopathy: A Case Series
Zhang, Yuzhou, Meyer, Nicole C., Fervenza, Fernando C., Lau, Winnie, Keenan, Adam, Cara-Fuentes, Gabriel, Shao, Dingwu, Akber, Aalia, Fremeaux-Bacchi, Veronique, Sethi, Sanjeev, Nester, Carla M., Smith, Richard J.H.
Published in American journal of kidney diseases (01.12.2017)
Published in American journal of kidney diseases (01.12.2017)
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Journal Article
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila, Vaziri, Saeideh, Akhtarkhavari, Tara, Bazazzadegan, Niloofar, Nikzat, Nooshin, Arzhangi, Sanaz, Sabbagh, Farahnaz, Otukesh, Hasan, Seifati, Seyed Morteza, Khodaei, Hossein, Taghdiri, Maryam, Meyer, Nicole C, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard JH, Azaiez, Hela, Najmabadi, Hossein
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Journal Article
Soluble CR1 Therapy Improves Complement Regulation in C3 Glomerulopathy
YUZHOU ZHANG, NESTER, Carla M, HOLANDA, Danniele G, MARSH, Henry C, HAMMOND, Russell A, THOMAS, Lawrence J, MEYER, Nicole C, HUNSICKER, Lawrence G, SETHI, Sanjeev, SMITH, Richard J. H
Published in Journal of the American Society of Nephrology (01.11.2013)
Published in Journal of the American Society of Nephrology (01.11.2013)
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Journal Article
Defining the complement biomarker profile of C3 glomerulopathy
Zhang, Yuzhou, Nester, Carla M, Martin, Bertha, Skjoedt, Mikkel-Ole, Meyer, Nicole C, Shao, Dingwu, Borsa, Nicolò, Palarasah, Yaseelan, Smith, Richard J H
Published in Clinical journal of the American Society of Nephrology (07.11.2014)
Published in Clinical journal of the American Society of Nephrology (07.11.2014)
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Journal Article
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab
Garg, Neetika, Zhang, Yuzhou, Nicholson-Weller, Anne, Khankin, Eliyahu V, Borsa, Nicolò Ghiringhelli, Meyer, Nicole C, McDermott, Susan, Stillman, Isaac E, Rennke, Helmut G, Smith, Richard J, Pavlakis, Martha
Published in Nephrology, dialysis, transplantation (01.12.2018)
Published in Nephrology, dialysis, transplantation (01.12.2018)
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Journal Article
Genetic male infertility and mutation of CATSPER ion channels
HILDEBRAND, Michael S, AVENARIUS, Matthew R, SMITH, Richard Jh, FELLOUS, Marc, YUZHOU ZHANG, MEYER, Nicole C, AUER, Jana, SERRES, Catherine, KAHRIZI, Kimia, NAJMABADI, Hossein, BECKMANN, Jacques S
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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