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Williams–Beuren syndrome shapes the gut microbiota metaproteome
Marzano, Valeria, Levi Mortera, Stefano, Vernocchi, Pamela, Del Chierico, Federica, Marangelo, Chiara, Guarrasi, Valerio, Gardini, Simone, Dentici, Maria Lisa, Capolino, Rossella, Digilio, Maria Cristina, Di Donato, Maddalena, Spasari, Iolanda, Abreu, Maria Teresa, Dallapiccola, Bruno, Putignani, Lorenza
Published in Scientific reports (03.11.2023)
Published in Scientific reports (03.11.2023)
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Journal Article
Hypercalcemia in Patients with Williams-Beuren Syndrome
Sindhar, Sampat, Lugo, Michael, Levin, Mark D., Danback, Joshua R., Brink, Benjamin D., Yu, Eric, Dietzen, Dennis J., Clark, Amy L., Purgert, Carolyn A., Waxler, Jessica L., Elder, Robert W., Pober, Barbara R., Kozel, Beth A.
Published in The Journal of pediatrics (01.11.2016)
Published in The Journal of pediatrics (01.11.2016)
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Journal Article
Increased heart rate fragmentation in those with Williams–Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk
Cathey, Brianna M., Bellach, Anna, Troendle, James, Smith, Kevin, Osgood, Sharon, Raja, Neelam, Kozel, Beth A., Levin, Mark D.
Published in American journal of physiology. Heart and circulatory physiology (01.08.2024)
Published in American journal of physiology. Heart and circulatory physiology (01.08.2024)
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Journal Article
Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations
Del Chierico, Federica, Marzano, Valeria, Scanu, Matteo, Reddel, Sofia, Dentici, Maria Lisa, Capolino, Rossella, Di Donato, Maddalena, Spasari, Iolanda, Fiscarelli, Ersilia Vita, Digilio, Maria Cristina, Abreu, Maria Teresa, Dallapiccola, Bruno, Putignani, Lorenza
Published in Scientific reports (16.06.2023)
Published in Scientific reports (16.06.2023)
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Journal Article
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients
Ghisleni, Cecilia, Parma, Barbara, Cianci, Paola, De Paoli, Anita, Pangallo, Elisabetta, Agovino, Teresa, Cereda, Anna, Bedeschi, Maria Francesca, Villa, Roberta, Fossati, Chiara, Modena, Piergiorgio, Giudici, Carolina, Morando, Carla, Memo, Luigi, Onesimo, Roberta, Zampino, Giuseppe, Salvatore, Silvia, Agosti, Massimo, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Journal Article
Mild macrocytosis in Williams-Beuren syndrome
Yu, Eric, Feinn, Richard, Bona, Robert, Brink, Benjamin, Sindhar, Sampat, Kozel, Beth A., Pober, Barbara R.
Published in European journal of medical genetics (01.03.2020)
Published in European journal of medical genetics (01.03.2020)
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Journal Article
Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
Mulle, Jennifer Gladys, Pulver, Ann E., McGrath, John A., Wolyniec, Paula S., Dodd, Anne F., Cutler, David J., Sebat, Jonathan, Malhotra, Dheeraj, Nestadt, Gerald, Conrad, Donald F., Hurles, Matthew, Barnes, Chris P., Ikeda, Masashi, Iwata, Nakao, Levinson, Douglas F., Gejman, Pablo V., Sanders, Alan R., Duan, Jubao, Mitchell, Adele A., Peter, Inga, Sklar, Pamela, O’Dushlaine, Colm T., Grozeva, Detelina, O’Donovan, Michael C., Owen, Michael J., Hultman, Christina M., Kähler, Anna K., Sullivan, Patrick F., Kirov, George, Warren, Stephen T.
Published in Biological psychiatry (1969) (01.03.2014)
Published in Biological psychiatry (1969) (01.03.2014)
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Journal Article
Determination of craniofacial and dental characteristics of individuals with Williams‐Beuren syndrome by using 3D facial scans and radiographs
Danneels, Florence, Verdonck, Anna, Indencleef, Karlijne, Declerck, Dominique, Willems, Guy, Cadenas De Llano‐Pérula, Maria
Published in Orthodontics & craniofacial research (01.08.2022)
Published in Orthodontics & craniofacial research (01.08.2022)
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Journal Article
Abstract 17825: Heart Rate Fragmentation Analysis May Suggest Non-Autonomic Markers of Sudden Cardiac Death Risk in Adults With Williams-Beuren Syndrome
Cathey, Brianna, levin, mark D, Fu, Yi-Ping, Smith, Kevin, Osgood, Sharon, Raja, Neelam, Kozel, Beth
Published in Circulation (New York, N.Y.) (07.11.2023)
Published in Circulation (New York, N.Y.) (07.11.2023)
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Journal Article
Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study
Lunati, Maria Elena, Bedeschi, Maria Francesca, Resi, Veronica, Grancini, Valeria, Palmieri, Eva, Salera, Simona, Lalatta, Faustina, Pugliese, Giuseppe, Orsi, Emanuela
Published in PloS one (20.10.2017)
Published in PloS one (20.10.2017)
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Journal Article
An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
Edelmann, Lisa, Prosnitz, Aaron, Pardo, Sherly, Bhatt, Jahnavi, Cohen, Ninette, Lauriat, Tara, Ouchanov, Leonid, González, Patricia J, Manghi, Elina R, Bondy, Pamela, Esquivel, Marcela, Monge, Silvia, Delgado, Marietha F, Splendore, Alessandra, Francke, Uta, Burton, Barbara K, McInnes, L Alison
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
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Journal Article
Lateral preference in Williams–Beuren syndrome is associated with cognition and language
Pérez-García, D., Flores, R., Brun-Gasca, C., Pérez-Jurado, L. A.
Published in European child & adolescent psychiatry (01.09.2015)
Published in European child & adolescent psychiatry (01.09.2015)
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Journal Article
Congenital genitourinary abnormalities in children with Williams–Beuren syndrome
Sammour, Zein M., Gomes, Cristiano M., de Bessa, Jose, Pinheiro, Marcello S., Kim, Chong A.E., Hisano, Marcelo, Bruschini, Homero, Srougi, Miguel
Published in Journal of pediatric urology (01.10.2014)
Published in Journal of pediatric urology (01.10.2014)
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Journal Article
Pulmonary function and emphysema in Williams-Beuren syndrome
Wan, Emily S., Pober, Barbara R., Washko, George R., Raby, Benjamin A., Silverman, Edwin K.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
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Journal Article
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome
Sammour, Z.M., de Bessa Jr, J., Hisano, M., Bruschini, H., Kim, C.A., Srougi, M., Gomes, C.M.
Published in Journal of pediatric urology (01.04.2017)
Published in Journal of pediatric urology (01.04.2017)
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Journal Article
Williams-Beuren Syndrome Is a Genetic Disorder Associated with Impaired Glucose Tolerance and Diabetes in Childhood and Adolescence: New Insights from a Longitudinal Study
Stagi, Stefano, Lapi, Elisabetta, Cecchi, Cecilia, Chiarelli, Francesco, D'Avanzo, Maria Gabriella, Seminara, Salvatore, de Martino, Maurizio
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
Bone mineral status and metabolism in patients with Williams-Beuren syndrome
Stagi, Stefano, Manoni, Cristina, Scalini, Perla, Chiarelli, Francesco, Verrotti, Alberto, Cecchi, Cecilia, Lapi, Elisabetta, Giglio, Sabrina, Romano, Silvia, de Martino, Maurizio
Published in Hormones (Athens, Greece) (01.07.2016)
Published in Hormones (Athens, Greece) (01.07.2016)
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Journal Article
Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome
Urbán, Zsolt, Riazi, Sheila, Seidl, Thomas L., Katahira, Jodi, Smoot, Leslie B., Chitayat, David, Boyd, Charles D., Hinek, Aleksander
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Visual depth processing in Williams–Beuren syndrome
Van der Geest, J. N., Lagers-van Haselen, G. C., van Hagen, J. M., Brenner, E., Govaerts, L. C. P., de Coo, I. F. M., Frens, M. A.
Published in Experimental brain research (01.10.2005)
Published in Experimental brain research (01.10.2005)
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Journal Article
Visual search deficits in Williams-Beuren syndrome
Montfoort, I., Frens, M.A., Hooge, I.Th.C., Haselen, G.C. Lagers-van, van der Geest, J.N.
Published in Neuropsychologia (01.01.2007)
Published in Neuropsychologia (01.01.2007)
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Journal Article