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POS1185 HIGH PHENOTYPIC VARIABILITY IN THREE SIBLINGS WITH ADA2 DEFICIENCY
Sculco, E., Paciaroni, K., Sangiorgi, E., Quinti, I., Pulvirenti, F.
Published in Annals of the rheumatic diseases (01.06.2023)
Published in Annals of the rheumatic diseases (01.06.2023)
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Tunable phenotypic variability through an autoregulatory alternative sigma factor circuit
Schwall, Christian P, Loman, Torkel E, Martins, Bruno M C, Cortijo, Sandra, Villava, Casandra, Kusmartsev, Vassili, Livesey, Toby, Saez, Teresa, Locke, James C W
Published in Molecular systems biology (01.07.2021)
Published in Molecular systems biology (01.07.2021)
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini N., Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J., Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Published in Cell reports (Cambridge) (18.08.2015)
Published in Cell reports (Cambridge) (18.08.2015)
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1792 Phenotypic variability in PAX2-related nephropathies: a monocentric study
Ciccone, Martina, Zacchia, Miriam, Perna, Alessandra
Published in Nephrology, dialysis, transplantation (23.05.2024)
Published in Nephrology, dialysis, transplantation (23.05.2024)
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Phenotypic variability in three families with valosin-containing protein mutation
Spina, S., Van Laar, A. D., Murrell, J. R., Hamilton, R. L., Kofler, J. K., Epperson, F., Farlow, M. R., Lopez, O. L., Quinlan, J., DeKosky, S. T., Ghetti, B.
Published in European journal of neurology (01.02.2013)
Published in European journal of neurology (01.02.2013)
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Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome
Somashekar, Puneeth H., Girisha, Katta M., Nampoothiri, Sheela, Gowrishankar, Kalpana, Devi, Radha R., Gupta, Neerja, Narayanan, Dhanya L., Kaur, Anupriya, Bajaj, Shruti, Jagadeesh, Sujatha, Lewis, Leslie E. S., Shailaja, Shenoy, Shukla, Anju
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Phenotypic variability in human skin mast cells
Babina, Magda, Guhl, Sven, Artuc, Metin, Trivedi, Neil N., Zuberbier, Torsten
Published in Experimental dermatology (01.06.2016)
Published in Experimental dermatology (01.06.2016)
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Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Dou, Qian, Xu, HongEn, Ma, LiYing, Tan, Li, Tang, WenXue
Published in BMC medical genomics (30.10.2023)
Published in BMC medical genomics (30.10.2023)
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Transposons, environmental changes, and heritable induced phenotypic variability
Piacentini, Lucia, Fanti, Laura, Specchia, Valeria, Bozzetti, Maria Pia, Berloco, Maria, Palumbo, Gino, Pimpinelli, Sergio
Published in Chromosoma (01.08.2014)
Published in Chromosoma (01.08.2014)
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Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)
Sergouniotis, Panagiotis I., Sohn, Elliott H., Li, Zheng, McBain, Vikki A., Wright, Genevieve A., Moore, Anthony T., Robson, Anthony G., Holder, Graham E., Webster, Andrew R.
Published in Ophthalmology (Rochester, Minn.) (01.08.2011)
Published in Ophthalmology (Rochester, Minn.) (01.08.2011)
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Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach
Cicchinelli, Michela, Primiano, Guido, Servidei, Serenella, Ardito, Michelangelo, Percio, Anna, Urbani, Andrea, Iavarone, Federica
Published in International journal of molecular sciences (01.10.2024)
Published in International journal of molecular sciences (01.10.2024)
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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, Nardocci, Nardo
Published in Parkinsonism & related disorders (01.08.2017)
Published in Parkinsonism & related disorders (01.08.2017)
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Prominent phenotypic variability associated with mutations in Progranulin
Kelley, Brendan J., Haidar, Wael, Boeve, Bradley F., Baker, Matt, Graff-Radford, Neill R., Krefft, Thomas, Frank, Andrew R., Jack, Clifford R., Shiung, Maria, Knopman, David S., Josephs, Keith A., Parashos, Sotirios A., Rademakers, Rosa, Hutton, Mike, Pickering-Brown, Stuart, Adamson, Jennifer, Kuntz, Karen M., Dickson, Dennis W., Parisi, Joseph E., Smith, Glenn E., Ivnik, Robert J., Petersen, Ronald C.
Published in Neurobiology of aging (01.05.2009)
Published in Neurobiology of aging (01.05.2009)
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Phenotypic variability in 17β-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls
Lee, Yung Seng, Kirk, Jeremy M. W., Stanhope, Richard G., Johnston, Derek I., Harland, Sharon, Auchus, Richard J., Andersson, Stefan, Hughes, Ieuan A.
Published in Clinical endocrinology (Oxford) (01.07.2007)
Published in Clinical endocrinology (Oxford) (01.07.2007)
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Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia
Vo, An, Sako, Wataru, Niethammer, Martin, Carbon, Maren, Bressman, Susan B., Uluğ, Aziz M., Eidelberg, David
Published in Cerebral cortex (New York, N.Y. 1991) (01.09.2015)
Published in Cerebral cortex (New York, N.Y. 1991) (01.09.2015)
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Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
Procopio, Radha, Fortunato, Francesco, Gagliardi, Monica, Talarico, Mariagrazia, Sammarra, Ilaria, Sarubbi, Maria Chiara, Malanga, Donatella, Annesi, Grazia, Gambardella, Antonio
Published in International journal of molecular sciences (01.05.2024)
Published in International journal of molecular sciences (01.05.2024)
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SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule
Scholl, Ute I., Dave, Haatal B., Lu, Ming, Farhi, Anita, Nelson-Williams, Carol, Listman, James A., Lifton, Richard P.
Published in Pediatric nephrology (Berlin, West) (01.11.2012)
Published in Pediatric nephrology (Berlin, West) (01.11.2012)
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Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Puliafito, Pamela, Azzari, Chiara, Bacchetta, Rosa, Cardinale, Fabio, Cicalese, Maria Pia, Consolini, Rita, Martino, Silvana, Martire, Baldassarre, Molinatto, Cristina, Plebani, Alessandro, Scarano, Gioacchino, Soresina, Annarosa, Cancrini, Caterina, Rossi, Paolo, Digilio, Maria Cristina, Pignata, Claudio
Published in BMC genetics (02.01.2014)
Published in BMC genetics (02.01.2014)
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North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Published in Investigative ophthalmology & visual science (01.06.2021)
Published in Investigative ophthalmology & visual science (01.06.2021)
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