From cause to care: Triple surveillance for better outcomes in birth defects and rare diseases
Botto, Lorenzo D., Mastroiacovo, Pierpaolo
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
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Journal Article
Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency
Andrews, Ashley, Roberts, Sarah, Botto, Lorenzo D
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Curic, Ela, Ewans, Lisa, Pysar, Ryan, Taylan, Fulya, Botto, Lorenzo D, Nordgren, Ann, Gahl, William, Palmer, Elizabeth Emma
Published in Orphanet journal of rare diseases (09.11.2023)
Published in Orphanet journal of rare diseases (09.11.2023)
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Journal Article
Associations Between Self-reported Inhibitory Control, Stress, and Alcohol (Mis)use During the First Wave of the COVID-19 Pandemic in the UK: a National Cross-sectional Study Utilising Data From Four Birth Cohorts
Clay, James M., Stafford, Lorenzo D., Parker, Matthew O.
Published in International journal of mental health and addiction (01.02.2023)
Published in International journal of mental health and addiction (01.02.2023)
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Journal Article
Stressful Events, Psychological Distress and Well-Being during the Second Wave of COVID-19 Pandemic in Spain: A Gender Analysis
Pilar Matud, M., del Pino, Mª José, Bethencourt, Juan Manuel, Estefanía Lorenzo, D.
Published in Applied Research in Quality of Life (01.06.2023)
Published in Applied Research in Quality of Life (01.06.2023)
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Journal Article
Higher olfactory sensitivity to coffee odour in habitual caffeine users
Stafford, Lorenzo D, Damant, Kit, Ashurst, Sophie, Parker, Matthew O
Published in Experimental and clinical psychopharmacology (01.04.2020)
Published in Experimental and clinical psychopharmacology (01.04.2020)
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Journal Article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.
Published in Annals of neurology (01.11.2022)
Published in Annals of neurology (01.11.2022)
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Journal Article
Identification of fibrinogen as a natural inhibitor of MMP-2
Sarker, Hassan, Hardy, Eugenio, Haimour, Ayman, Maksymowych, Walter P., Botto, Lorenzo D., Fernandez-Patron, Carlos
Published in Scientific reports (13.03.2019)
Published in Scientific reports (13.03.2019)
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Journal Article
Off-label Uses of Selective Serotonin Reuptake Inhibitors (SSRIs)
Jannini, Tommaso B, Lorenzo, Giorgio D, Bianciardi, Emanuela, Niolu, Cinzia, Toscano, Massimiliano, Ciocca, Giacomo, Jannini, Emmanuele A, Siracusano, Alberto
Published in Current neuropharmacology (01.01.2022)
Published in Current neuropharmacology (01.01.2022)
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Journal Article
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak‐Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Journal Article
Cancer risk in children and adolescents with birth defects: a population-based cohort study
Botto, Lorenzo D, Flood, Timothy, Little, Julian, Fluchel, Mark N, Krikov, Sergey, Feldkamp, Marcia L, Wu, Yuan, Goedken, Rhinda, Puzhankara, Soman, Romitti, Paul A
Published in PloS one (17.07.2013)
Published in PloS one (17.07.2013)
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Journal Article
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy
Yuzyuk, Tatiana, Thomas, Amanda, Viau, Krista, Liu, Aiping, De Biase, Irene, Botto, Lorenzo D., Pasquali, Marzia, Longo, Nicola
Published in Molecular genetics and metabolism (01.07.2016)
Published in Molecular genetics and metabolism (01.07.2016)
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Journal Article
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
Cetinkaya, Arda, Xiong, Jingwei Rachel, Vargel, İbrahim, Kösemehmetoğlu, Kemal, Canter, Halil İbrahim, Gerdan, Ömer Faruk, Longo, Nicola, Alzahrani, Ahmad, Camps, Mireia Perez, Taskiran, Ekim Zihni, Laupheimer, Simone, Botto, Lorenzo D., Paramalingam, Eeswari, Gormez, Zeliha, Uz, Elif, Yuksel, Bayram, Ruacan, Şevket, Sağıroğlu, Mahmut Şamil, Takahashi, Tokiharu, Reversade, Bruno, Akarsu, Nurten Ayse
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Action against birth defects: if not now, when?
Strong, Kathleen, Robb-McCord, Judith, Walani, Salimah, Mellado, Cecilia, Botto, Lorenzo D, Lay-Son, Guillermo, Diaz, Theresa, Banu, Tahmina, Lakhoo, Kokila, Banerjee, Anshu
Published in Global health action (31.12.2024)
Published in Global health action (31.12.2024)
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Journal Article
Role of π‑Radical Localization on Thermally Stable Cross-Links Between Polycyclic Aromatic Hydrocarbons
Selvakumar, Praveen K., Martin, Jacob W., Lorenzo, Mauricio D., Paskevicius, Mark, Buckley, Craig E.
Published in The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory (24.08.2023)
Published in The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory (24.08.2023)
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Journal Article
Improvement in stroke mortality in Canada and the United States, 1990 to 2002
QUANHE YANG, BOTTO, Lorenzo D, ERICKSON, J. David, BERRY, Robert J, SAMBELL, Christie, JOHANSEN, Helen, FRIEDMAN, J. M
Published in Circulation (New York, N.Y.) (14.03.2006)
Published in Circulation (New York, N.Y.) (14.03.2006)
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Journal Article