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Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Among authors: mascarenhas s. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S, Narayanan DL, Mascarenhas S, do Rosario MC, Nair KV, Periyasamy R, Shukla A. Farooqui S, et al. Among authors: mascarenhas s. Am J Med Genet A. 2024 May;194(5):e63529. doi: 10.1002/ajmg.a.63529. Epub 2024 Jan 5. Am J Med Genet A. 2024. PMID: 38179855
Principles for the Physician-Led Patient-Centered Medical Home and Other Approaches to Team-Based Care: A Position Paper From the American College of Physicians.
Crowley R, Pugach D, Williams M, Goldman J, Hilden D, Schultz AF, Beachy M; Health and Public Policy Committee; Medical Practice and Quality Committee of the American College of Physicians. Crowley R, et al. Ann Intern Med. 2024 Jan;177(1):65-67. doi: 10.7326/M23-2260. Epub 2023 Dec 26. Ann Intern Med. 2024. PMID: 38145573 Free article.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: mascarenhas s. Eur J Hum Genet. 2023 Dec 20. doi: 10.1038/s41431-023-01513-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38114583
Multifaceted Strategy Based on Automated Text Messaging After a Recent Heart Failure Admission: The MESSAGE-HF Randomized Clinical Trial.
Rohde LE, Rover MM, Hoffmann Filho CR, Rabelo-Silva ER, Silvestre OM, Martins SM, Passos LCS, de Figueiredo Neto JA, Danzmann LC, Silveira FS, Mesas CE, Hernandes ME, Moura LZ, Simões MV, Ritt LEF, Nishijuka FA, Bertoldi EG, Dall Orto FTC, Magedanz EH, Mourilhe-Rocha R, Fernandes-Silva MM, Ferraz AS, Schwartzmann P, de Castilho FM, Pereira Barretto AC, Dos Santos Júnior EG, Nogueira PR, Canesin M, Beck-da-Silva L, de Carvalho Silva M, Adolfi Júnior MS, Santos RHN, Ferreira A, Pereira D, López Pedraza L, Kojima FCS, Campos V, de Barros E Silva PGM, Blacher M, Cavalcanti AB, Ramires F; MESSAGE-HF Investigators. Rohde LE, et al. JAMA Cardiol. 2024 Feb 1;9(2):105-113. doi: 10.1001/jamacardio.2023.4501. JAMA Cardiol. 2024. PMID: 38055237 Clinical Trial.
77 results