Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, Starost, Matthew F, Zerfas, Patricia M, Hoffmann, Victoria J, Hoogstraten-Miller, Shelley, Krasnewich, Donna M, Gahl, William A, Huizing, Marjan
Published in The Journal of clinical investigation (01.06.2007)
Published in The Journal of clinical investigation (01.06.2007)
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Journal Article
A metabolomics-based approach for non-invasive diagnosis of chromosomal anomalies
Troisi, Jacopo, Sarno, Laura, Martinelli, Pasquale, Di Carlo, Costantino, Landolfi, Annamaria, Scala, Giovanni, Rinaldi, Maurizio, D’Alessandro, Pietro, Ciccone, Carla, Guida, Maurizio
Published in Metabolomics (01.11.2017)
Published in Metabolomics (01.11.2017)
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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Frontiers in genetics (08.03.2023)
Published in Frontiers in genetics (08.03.2023)
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Journal Article
Bisphenol A and congenital developmental defects in humans
Guida, Maurizio, Troisi, Jacopo, Ciccone, Carla, Granozio, Giovanni, Cosimato, Cosimo, Di Spiezio Sardo, Attilio, Ferrara, Cinzia, Guida, Marco, Nappi, Carmine, Zullo, Fulvio, Di Carlo, Costantino
Published in Mutation research (01.04.2015)
Published in Mutation research (01.04.2015)
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Journal Article
The Gne M712T Mouse as a Model for Human Glomerulopathy
Kakani, Sravan, Yardeni, Tal, Poling, Justin, Ciccone, Carla, Niethamer, Terren, Klootwijk, Enriko D, Manoli, Irini, Darvish, Daniel, Hoogstraten-Miller, Shelley, Zerfas, Patricia, Tian, E, Ten Hagen, Kelly G, Kopp, Jeffrey B, Gahl, William A, Huizing, Marjan
Published in The American journal of pathology (01.04.2012)
Published in The American journal of pathology (01.04.2012)
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Journal Article
Evaluation of the effects of electrical stimulation on cartilage repair in adult male rats
Zuzzi, Denise Cristina, Ciccone, Carla de Campos, Neves, Lia Mara Grosso, Mendonça, Josué Sampaio, Joazeiro, Paulo Pinto, Esquisatto, Marcelo Augusto Marretto
Published in Tissue & cell (01.08.2013)
Published in Tissue & cell (01.08.2013)
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Journal Article
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, Sonies, Barbara, Ciccone, Carla, Dorward, Heidi, Krasnewich, Donna, Huizing, Marjan, Dalakas, Marinos C, Gahl, William A
Published in BMC neurology (29.01.2007)
Published in BMC neurology (29.01.2007)
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Journal Article
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
Lam, Christina, Gallo, Linda K, Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E, Wolfe, Lynne, Gahl, William A, Huizing, Marjan
Published in Molecular genetics and metabolism reports (01.01.2014)
Published in Molecular genetics and metabolism reports (01.01.2014)
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Journal Article
Rab27B-Mediated Metabolic Reprogramming Induces Secretome Acidification and Chemoresistance in Breast Cancer Cells
Hendrix, An, Ciccone, Carla, Gespach, Christian, Bracke, Marc, De Wever, Olivier, Westbroek, Wendy
Published in Journal of Circulating Biomarkers (01.01.2013)
Published in Journal of Circulating Biomarkers (01.01.2013)
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Book Review
Journal Article
Effects of microcurrent stimulation on hyaline cartilage repair in immature male rats (Rattus norvegicus)
de Campos Ciccone, Carla, Zuzzi, Denise Cristina, Neves, Lia Mara Grosso, Mendonça, Josué Sampaio, Joazeiro, Paulo Pinto, Esquisatto, Marcelo Augusto Marretto
Published in BMC complementary and alternative medicine (19.01.2013)
Published in BMC complementary and alternative medicine (19.01.2013)
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Journal Article
Noninvasive screening for congenital heart defects using a serum metabolomics approach
Troisi, Jacopo, Cavallo, Pierpaolo, Richards, Sean, Symes, Steven, Colucci, Angelo, Sarno, Laura, Landolfi, Annamaria, Scala, Giovanni, Adair, David, Ciccone, Carla, Maruotti, Giuseppe M., Martinelli, Pasquale, Guida, Maurizio
Published in Prenatal diagnosis (01.05.2021)
Published in Prenatal diagnosis (01.05.2021)
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Journal Article
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype
Ansh, Anenya Jai, Stabach, Paul R., Ciccone, Carla, Cao, Wenxiang, De La Cruz, Enrique M., Sabbagh, Yves, Carpenter, Thomas O., Ferreira, Carlos R., Braddock, Demetrios T.
Published in Bone (New York, N.Y.) (01.09.2024)
Published in Bone (New York, N.Y.) (01.09.2024)
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Journal Article
A metabolomics-based approach for non-invasive screening of fetal central nervous system anomalies
Troisi, Jacopo, Landolfi, Annamaria, Sarno, Laura, Richards, Sean, Symes, Steven, Adair, David, Ciccone, Carla, Scala, Giovanni, Martinelli, Pasquale, Guida, Maurizio
Published in Metabolomics (01.06.2018)
Published in Metabolomics (01.06.2018)
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Journal Article
Mutation Update for GNE Gene Variants Associated with GNE Myopathy
Celeste, Frank V., Vilboux, Thierry, Ciccone, Carla, de Dios, John Karl, Malicdan, May Christine V., Leoyklang, Petcharat, McKew, John C., Gahl, William A., Carrillo-Carrasco, Nuria, Huizing, Marjan
Published in Human mutation (01.08.2014)
Published in Human mutation (01.08.2014)
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Journal Article
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study
Carrillo, Nuria, Malicdan, May C, Leoyklang, Petcharat, Shrader, Joseph A, Joe, Galen, Slota, Christina, Perreault, John, Heiss, John D, Class, Bradley, Liu, Chia-Ying, Bradley, Kennan, Jodarski, Colleen, Ciccone, Carla, Driscoll, Claire, Parks, Rebecca, Van Wart, Scott, Bayman, Levent, Coffey, Christopher S, Quintana, Melanie, Berry, Scott M, Huizing, Marjan, Gahl, William A
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
Xu, Xin, Wang, Amy Q., Latham, Lea L., Celeste, Frank, Ciccone, Carla, Malicdan, May Christine, Goldspiel, Barry, Terse, Pramod, Cradock, James, Yang, Nora, Yorke, Selwyn, McKew, John C., Gahl, William A., Huizing, Marjan, Carrillo, Nuria
Published in Molecular genetics and metabolism (01.09.2017)
Published in Molecular genetics and metabolism (01.09.2017)
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Journal Article
A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
CULLINANE, Andrew R, CURRY, James A, HUIZING, Marjan, GAHL, William A, CARMONA-RIVERA, Carmelo, GAIL SUMMERS, C, CICCONE, Carla, CARDILLO, Nicholas D, DORWARD, Heidi, HESS, Richard A, WHITE, James G, ADAMS, David
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article
Quantitation of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC–MS/MS: method development and validation
Fang, Meng, Xu, Xin, Zhang, Michael, Shi, Yifan, Gu, Guodong, Liu, Wanjing, Class, Bradley, Ciccone, Carla, Gahl, William A., Huizing, Marjan, Carrillo, Nuria, Wang, Amy Q.
Published in Biomedical chromatography (01.02.2020)
Published in Biomedical chromatography (01.02.2020)
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